Variant report

Variant	nsv1004937
Chromosome Location	chr2:145079535-145159021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1775)
CpG islands
(count:1468)
Chromatin interactive
region (count:103)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:60)

(count:1775 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145089596-145089782	K562	blood:	n/a	n/a
2	ARID3A	chr2:145091153-145091253	K562	blood:	n/a	n/a
3	ARID3A	chr2:145089553-145089803	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:145115583-145115882	K562	blood:	n/a	n/a
5	ARID3A	chr2:145107992-145108004	K562	blood:	n/a	n/a
6	ARID3A	chr2:145142385-145142475	K562	blood:	n/a	n/a
7	ARID3A	chr2:145090274-145090350	K562	blood:	n/a	n/a
8	ARID3A	chr2:145108213-145108394	K562	blood:	n/a	n/a
9	ARID3A	chr2:145135651-145135939	K562	blood:	n/a	n/a
10	ARID3A	chr2:145130231-145130356	K562	blood:	n/a	n/a
11	ARID3A	chr2:145128837-145129157	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:145128377-145129210	K562	blood:	n/a	n/a
13	ATF1	chr2:145131924-145132247	K562	blood:	n/a	n/a
14	ATF1	chr2:145135565-145135897	K562	blood:	n/a	n/a
15	ATF1	chr2:145115555-145115877	K562	blood:	n/a	n/a
16	ATF1	chr2:145128510-145129152	K562	blood:	n/a	n/a
17	ATF2	chr2:145115307-145116353	GM12878	blood:	n/a	n/a
18	ATF2	chr2:145082142-145083011	GM12878	blood:	n/a	n/a
19	ATF2	chr2:145122499-145122934	GM12878	blood:	n/a	n/a
20	ATF2	chr2:145140341-145140935	GM12878	blood:	n/a	n/a
21	ATF2	chr2:145116346-145117071	GM12878	blood:	n/a	n/a
22	ATF2	chr2:145116400-145116981	GM12878	blood:	n/a	n/a
23	ATF2	chr2:145115371-145116085	GM12878	blood:	n/a	n/a
24	ATF2	chr2:145140299-145140976	GM12878	blood:	n/a	n/a
25	ATF2	chr2:145131655-145132272	GM12878	blood:	n/a	n/a
26	ATF2	chr2:145131449-145132398	GM12878	blood:	n/a	n/a
27	ATF3	chr2:145090036-145090347	K562	blood:	n/a	n/a
28	ATF3	chr2:145115542-145115932	HCT-116	colon:	n/a	n/a
29	ATF3	chr2:145115483-145115852	K562	blood:	n/a	n/a
30	ATF3	chr2:145135520-145135737	K562	blood:	n/a	n/a
31	BACH1	chr2:145115651-145115829	K562	blood:	n/a	n/a
32	BACH1	chr2:145103927-145103954	K562	blood:	n/a	n/a
33	BACH1	chr2:145117457-145117466	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr2:145089537-145090551	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr2:145116865-145117091	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr2:145116703-145117232	K562	blood:	n/a	n/a
37	BACH1	chr2:145107931-145108019	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr2:145090318-145090362	K562	blood:	n/a	n/a
39	BATF	chr2:145115510-145115919	GM12878	blood:	n/a	n/a
40	BATF	chr2:145091373-145091700	GM12878	blood:	n/a	n/a
41	BATF	chr2:145116451-145116995	GM12878	blood:	n/a	n/a
42	BATF	chr2:145100786-145101032	GM12878	blood:	n/a	chr2:145100932-145100943 chr2:145100933-145100943
43	BATF	chr2:145082014-145082362	GM12878	blood:	n/a	n/a
44	BATF	chr2:145115501-145116007	GM12878	blood:	n/a	n/a
45	BATF	chr2:145091402-145091659	GM12878	blood:	n/a	n/a
46	BATF	chr2:145140385-145140807	GM12878	blood:	n/a	n/a
47	BATF	chr2:145131822-145132274	GM12878	blood:	n/a	chr2:145132040-145132050
48	BATF	chr2:145100782-145101020	GM12878	blood:	n/a	chr2:145100932-145100943 chr2:145100933-145100943
49	BATF	chr2:145131653-145132329	GM12878	blood:	n/a	chr2:145132040-145132050
50	BCL11A	chr2:145116498-145116984	GM12878	blood:	n/a	chr2:145116620-145116629 chr2:145116621-145116630

(count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145106459-145106509	MCF10A-Er-Src	breast:	n/a
2	chr2:145109155-145109205	HEEpiC	esophagus:	n/a
3	chr2:145090273-145090323	Caco-2	colon:	n/a
4	chr2:145090814-145090864	HMEC	breast:	n/a
5	chr2:145106459-145106509	MCF10A-Er-Src	breast:	n/a
6	chr2:145109155-145109205	HEEpiC	esophagus:	n/a
7	chr2:145090273-145090323	Caco-2	colon:	n/a
8	chr2:145090814-145090864	HMEC	breast:	n/a
9	chr2:145147291-145147341	HNPCEpiC	eye:	n/a
10	chr2:145106459-145106509	HEK293	kidney:	embryo
11	chr2:145109155-145109205	SAEC	small airway:	n/a
12	chr2:145088871-145088921	MCF10A-Er-Src	breast:	n/a
13	chr2:145086783-145086833	AG04450	lung:	fetal
14	chr2:145090156-145090206	K562	blood:	n/a
15	chr2:145129279-145129329	Caco-2	colon:	n/a
16	chr2:145149645-145149695	HRCEpiC	kidney:	n/a
17	chr2:145147450-145147500	PFSK-1	brain:	n/a
18	chr2:145090156-145090206	T-47D	breast:	n/a
19	chr2:145147350-145147400	H1-hESC	embryonic stem cell:	embryo
20	chr2:145086783-145086833	LNCaP	prostate:	n/a
21	chr2:145146928-145146978	ProgFib	skin:	n/a
22	chr2:145090856-145090906	Caco-2	colon:	n/a
23	chr2:145137193-145137243	AG09309	skin:	n/a
24	chr2:145137193-145137243	HEK293	kidney:	embryo
25	chr2:145149645-145149695	NH-A	brain:	n/a
26	chr2:145090268-145090318	LNCaP	prostate:	n/a
27	chr2:145090273-145090323	HIPEpiC	eye:	n/a
28	chr2:145088871-145088921	ProgFib	skin:	n/a
29	chr2:145116633-145116683	Hela-S3	cervix:	n/a
30	chr2:145086783-145086833	NT2-D1	testis:	n/a
31	chr2:145090268-145090318	BE2_C	brain:	n/a
32	chr2:145137193-145137243	NHBE	bronchial:	n/a
33	chr2:145147450-145147500	SAEC	small airway:	n/a
34	chr2:145116633-145116683	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:145090156-145090206	PANC-1	pancreas:	n/a
36	chr2:145143754-145143804	GM19239	blood:	n/a
37	chr2:145090814-145090864	SK-N-SH	brain:	n/a
38	chr2:145106459-145106509	HNPCEpiC	eye:	n/a
39	chr2:145089003-145089053	PANC-1	pancreas:	n/a
40	chr2:145137193-145137243	HNPCEpiC	eye:	n/a
41	chr2:145089952-145090002	SK-N-SH_RA	brain:	n/a
42	chr2:145090579-145090629	SKMC	muscle:	n/a
43	chr2:145090579-145090629	RPTEC	kidney:	n/a
44	chr2:145137193-145137243	SAEC	small airway:	n/a
45	chr2:145089952-145090002	HRCEpiC	kidney:	n/a
46	chr2:145147350-145147400	NH-A	brain:	n/a
47	chr2:145090268-145090318	Caco-2	colon:	n/a
48	chr2:145147558-145147608	K562	blood:	n/a
49	chr2:145137193-145137243	HRCEpiC	kidney:	n/a
50	chr2:145088871-145088921	RPTEC	kidney:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:145001769..145004480-chr2:145087992..145089753,2	K562	blood:
2	chr2:145050777..145053191-chr2:145148007..145150328,2	K562	blood:
3	chr2:145113699..145118738-chr2:145123471..145132698,16	K562	blood:
4	chr2:145087272..145093543-chr2:145127543..145134440,10	K562	blood:
5	chr2:145137742..145139829-chr2:145140082..145141755,3	K562	blood:
6	chr2:145095094..145097768-chr2:145100010..145102320,2	K562	blood:
7	chr2:145078361..145080551-chr2:145088706..145090530,2	MCF-7	breast:
8	chr2:145096521..145098138-chr2:145100118..145102499,2	K562	blood:
9	chr2:145087636..145089922-chr2:145106660..145109539,2	K562	blood:
10	chr2:145089071..145093543-chr2:145128118..145132907,5	K562	blood:
11	chr2:145105008..145111276-chr2:145112714..145119371,14	K562	blood:
12	chr2:145068763..145071658-chr2:145087290..145089082,2	MCF-7	breast:
13	chr2:145121979..145125810-chr2:145127231..145130205,7	K562	blood:
14	chr2:145137742..145139829-chr2:145140082..145141755,3	K562	blood:
15	chr2:145130971..145132666-chr2:145136007..145137596,2	K562	blood:
16	chr2:145115490..145118490-chr2:145129844..145132475,4	K562	blood:
17	chr2:145115989..145118436-chr2:145136687..145138889,2	K562	blood:
18	chr2:145130971..145132666-chr2:145136007..145137596,2	K562	blood:
19	chr2:145118036..145120475-chr2:145120744..145122747,2	K562	blood:
20	chr2:145081859..145086647-chr2:145087025..145090343,4	MCF-7	breast:
21	chr2:145088714..145091175-chr2:145108311..145111110,2	MCF-7	breast:
22	chr2:145104862..145106957-chr2:145163391..145165143,2	K562	blood:
23	chr2:145095335..145098088-chr2:145275759..145277827,2	K562	blood:
24	chr2:145127904..145130158-chr2:145132962..145135705,3	K562	blood:
25	chr2:145121979..145125810-chr2:145127231..145130205,7	K562	blood:
26	chr2:145120445..145123036-chr2:145123497..145125764,2	K562	blood:
27	chr2:145101949..145103521-chr2:145105265..145107587,2	K562	blood:
28	chr2:144760510..144763238-chr2:145137161..145139073,2	K562	blood:
29	chr2:145088655..145092424-chr2:145109765..145113679,4	K562	blood:
30	chr2:145128884..145131522-chr2:145140169..145142688,2	K562	blood:
31	chr2:145115526..145118238-chr2:145138850..145140731,2	K562	blood:
32	chr2:145091353..145093709-chr2:145104378..145106961,3	K562	blood:
33	chr2:145115490..145118490-chr2:145129844..145132475,4	K562	blood:
34	chr2:145087493..145092844-chr2:145094760..145098579,11	K562	blood:
35	chr2:144984610..144988238-chr2:145113704..145117959,3	K562	blood:
36	chr2:145088154..145093007-chr2:145104378..145110887,6	K562	blood:
37	chr2:145148475..145150258-chr2:145276141..145277673,2	K562	blood:
38	chr2:145150724..145153101-chr2:145154012..145156643,2	K562	blood:
39	chr2:145042494..145045279-chr2:145088197..145089944,2	MCF-7	breast:
40	chr2:145135887..145137733-chr2:145139327..145142877,4	K562	blood:
41	chr2:145122184..145124039-chr2:145128692..145131553,2	K562	blood:
42	chr2:145087371..145093074-chr2:145095023..145100712,12	K562	blood:
43	chr2:145091353..145093709-chr2:145104378..145106961,3	K562	blood:
44	chr2:145088502..145090530-chr2:145137453..145140071,2	K562	blood:
45	chr2:144967697..144970427-chr2:145115619..145118092,2	K562	blood:
46	chr2:145128884..145131522-chr2:145140169..145142688,2	K562	blood:
47	chr2:145150724..145153101-chr2:145154012..145156643,2	K562	blood:
48	chr2:145095094..145097768-chr2:145100010..145102320,2	K562	blood:
49	chr2:144906956..144909639-chr2:145115493..145118052,3	K562	blood:
50	chr2:144906956..144909380-chr2:145115653..145118052,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTDC1-9	chr2:145143042-145143557	NONHSAT074757
2	lnc-ARHGAP15-17	chr2:145142022-145142145	ucscGeneNc_uc002twc_2

No data

(count:60 , 50 per page) page: 1 2

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZEB2	hsa-miR-429	chr2:145146562-145146555
2	ZEB2	hsa-miR-153-3p	chr2:145146821-145146843
3	ZEB2	hsa-miR-429	chr2:145146119-145146112
4	ZEB2	hsa-miR-221-3p	chr2:145145590-145145611
5	ZEB2	hsa-miR-200b-3p	chr2:145146198-145146220
6	ZEB2	hsa-miR-200b-3p	chr2:145146562-145146555
7	ZEB2	hsa-miR-200b-3p	chr2:145145654-145145648
8	ZEB2	hsa-miR-200c-3p	chr2:145146113-145146137
9	ZEB2	hsa-miR-429	chr2:145146198-145146220
10	ZEB2	hsa-miR-200a-3p	chr2:145146809-145146802
11	ZEB2	hsa-miR-141-3p	chr2:145145982-145146004
12	ZEB2	hsa-miR-138-5p	chr2:145146251-145146245
13	ZEB2	hsa-miR-200c-3p	chr2:145146198-145146222
14	ZEB2	hsa-miR-200c-3p	chr2:145145988-145145981
15	ZEB2	hsa-miR-153-3p	chr2:145146328-145146322
16	ZEB2	hsa-miR-153-3p	chr2:145146323-145146344
17	ZEB2	hsa-miR-200c-3p	chr2:145145654-145145648
18	ZEB2	hsa-miR-205-5p	chr2:145146448-145146469
19	ZEB2	hsa-miR-429	chr2:145146625-145146619
20	ZEB2	hsa-miR-429	chr2:145146113-145146138
21	ZEB2	hsa-miR-200b-3p	chr2:145146556-145146580
22	ZEB2	hsa-miR-429	chr2:145145649-145145669
23	ZEB2	hsa-miR-200b-3p	chr2:145146113-145146136
24	ZEB2	hsa-miR-200b-3p	chr2:145146204-145146197
25	ZEB2	hsa-miR-141-3p	chr2:145146277-145146295
26	ZEB2	hsa-miR-200b-3p	chr2:145145988-145145981
27	ZEB2	hsa-miR-200b-3p	chr2:145146625-145146619
28	ZEB2	hsa-miR-429	chr2:145146204-145146197
29	ZEB2	hsa-miR-200c-3p	chr2:145146562-145146555
30	ZEB2	hsa-miR-200b-3p	chr2:145146119-145146112
31	ZEB2	hsa-miR-429	chr2:145145982-145146003
32	ZEB2	hsa-miR-200b-3p	chr2:145146619-145146643
33	ZEB2	hsa-miR-205-5p	chr2:145146384-145146406
34	ZEB2	hsa-miR-200c-3p	chr2:145146119-145146112
35	ZEB2	hsa-miR-141-3p	chr2:145146809-145146802
36	ZEB2	hsa-miR-200b-3p	chr2:145145982-145146003
37	ZEB2	hsa-miR-200c-3p	chr2:145146204-145146197
38	ZEB2	hsa-miR-138-5p	chr2:145146245-145146270
39	ZEB2	hsa-miR-200c-3p	chr2:145146625-145146619
40	ZEB2	hsa-miR-221-3p	chr2:145145596-145145590
41	ZEB2	hsa-miR-200a-3p	chr2:145146277-145146295
42	ZEB2	hsa-miR-200b-3p	chr2:145145649-145145670
43	ZEB2	hsa-miR-141-3p	chr2:145146803-145146821
44	ZEB2	hsa-miR-221-3p	chr2:145146033-145146055
45	ZEB2	hsa-miR-429	chr2:145146619-145146643
46	ZEB2	hsa-miR-429	chr2:145145988-145145981
47	ZEB2	hsa-miR-200a-3p	chr2:145146803-145146824
48	ZEB2	hsa-miR-429	chr2:145146556-145146577
49	ZEB2	hsa-miR-181a-5p	chr2:145144986-145144979
50	ZEB2	hsa-miR-200c-3p	chr2:145146556-145146578

Variant related genes	Relation type
GTDC1	TF binding region
GTDC1	CpG island
ENSG00000169554	chromatin interactions
ENSG00000121964	chromatin interactions
ENSG00000238057	chromatin interactions

Extended variants
information (count: 2574 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:2574 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548992455	chr2:145079559-145079560	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182777379	chr2:145079689-145079690	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534940130	chr2:145079695-145079696	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116573070	chr2:145079762-145079763	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533611424	chr2:145079800-145079801	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571272545	chr2:145079888-145079889	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538691514	chr2:145079893-145079894	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115989758	chr2:145079981-145079982	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371499083	chr2:145080038-145080039	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375818238	chr2:145080047-145080048	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543238169	chr2:145080061-145080062	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554941463	chr2:145080114-145080115	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186487519	chr2:145080122-145080123	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540538405	chr2:145080123-145080124	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531406056	chr2:145080141-145080142	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555422931	chr2:145080164-145080165	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564892599	chr2:145080220-145080221	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191419400	chr2:145080252-145080253	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530498341	chr2:145080301-145080302	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183459071	chr2:145080338-145080339	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563036288	chr2:145080345-145080346	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs147844399	chr2:145080379-145080380	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550428255	chr2:145080403-145080404	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567366288	chr2:145080408-145080409	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528354158	chr2:145080409-145080410	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546919726	chr2:145080428-145080429	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77650183	chr2:145080452-145080453	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150347246	chr2:145080457-145080458	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556763653	chr2:145080578-145080579	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568960268	chr2:145080579-145080580	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535984270	chr2:145080581-145080582	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555109395	chr2:145080687-145080688	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs28825442	chr2:145080692-145080693	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540475123	chr2:145080696-145080697	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565491659	chr2:145080713-145080714	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558866212	chr2:145080785-145080786	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200834133	chr2:145080849-145080850	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576814652	chr2:145080884-145080885	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145289646	chr2:145080900-145080901	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2081776	chr2:145080938-145080939	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544953948	chr2:145080947-145080948	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149167660	chr2:145080975-145080976	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541969084	chr2:145080996-145080997	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561091158	chr2:145081024-145081025	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187348980	chr2:145081057-145081058	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145037206	chr2:145081118-145081119	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565211782	chr2:145081132-145081133	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs578142210	chr2:145081161-145081162	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545573084	chr2:145081189-145081190	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138825084	chr2:145081209-145081210	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2277 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145069000-145082000	Weak transcription	Fetal Heart	heart
2	chr2:145070800-145088000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:145074200-145081400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:145075000-145088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:145075200-145082400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:145076800-145081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:145077800-145079800	Enhancers	Dnd41	blood
8	chr2:145078000-145079800	Enhancers	NHLF	lung
9	chr2:145078400-145081600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:145078400-145082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:145078400-145082000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:145078400-145082600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:145078400-145084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:145078400-145088600	Weak transcription	Ovary	ovary
15	chr2:145078400-145088600	Weak transcription	Right Ventricle	heart
16	chr2:145078400-145089200	Weak transcription	Spleen	Spleen
17	chr2:145078600-145079600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:145078600-145080400	Enhancers	NHDF-Ad	bronchial
19	chr2:145078600-145081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:145078600-145081400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:145078600-145081600	ZNF genes & repeats	GM12878-XiMat	blood
22	chr2:145078600-145082000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:145078600-145082400	Weak transcription	Brain Substantia Nigra	brain
24	chr2:145078600-145082600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:145078600-145085400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:145078600-145088400	Weak transcription	HSMM	muscle
27	chr2:145078800-145080400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:145078800-145080800	Weak transcription	K562	blood
29	chr2:145078800-145081000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:145078800-145081000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:145078800-145082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:145078800-145082000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:145078800-145082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:145078800-145082200	Weak transcription	Primary T cells from cord blood	blood
35	chr2:145078800-145082600	Weak transcription	Osteobl	bone
36	chr2:145078800-145085200	Weak transcription	Psoas Muscle	Psoas
37	chr2:145078800-145088600	Weak transcription	HSMMtube	muscle
38	chr2:145079000-145079600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:145079000-145080800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:145079000-145081000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:145079000-145081200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:145079000-145081400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:145079000-145081400	Weak transcription	NHEK	skin
44	chr2:145079000-145082000	Weak transcription	HMEC	breast
45	chr2:145079000-145082200	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:145079000-145082400	Weak transcription	Brain Angular Gyrus	brain
47	chr2:145079000-145082600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:145079000-145082600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:145079000-145088600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:145079200-145079800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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