Variant report

Variant	esv3377192
Chromosome Location	chr2:233758324-233835472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:524)
CpG islands
(count:1588)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:233802019-233802308	K562	blood:	n/a	n/a
2	ATF1	chr2:233802001-233802312	K562	blood:	n/a	n/a
3	ATF2	chr2:233820492-233820975	GM12878	blood:	n/a	n/a
4	ATF3	chr2:233802046-233802344	K562	blood:	n/a	n/a
5	BACH1	chr2:233768141-233768150	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:233806391-233806417	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:233792321-233792326	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:233806138-233806479	GM12878	blood:	n/a	chr2:233806258-233806269
9	BATF	chr2:233764531-233764799	GM12878	blood:	n/a	n/a
10	BATF	chr2:233810337-233810611	GM12878	blood:	n/a	n/a
11	BATF	chr2:233806113-233806423	GM12878	blood:	n/a	chr2:233806258-233806269
12	BCL11A	chr2:233764191-233764835	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:233764992-233765227	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:233765234-233765563	GM12878	blood:	n/a	n/a
15	BCL3	chr2:233763418-233764598	GM12878	blood:	n/a	n/a
16	BCL3	chr2:233763417-233765657	GM12878	blood:	n/a	n/a
17	BCL3	chr2:233781402-233781736	GM12878	blood:	n/a	n/a
18	BCL3	chr2:233765229-233765708	GM12878	blood:	n/a	n/a
19	BCL3	chr2:233764696-233765215	GM12878	blood:	n/a	n/a
20	BCL3	chr2:233807492-233807829	GM12878	blood:	n/a	chr2:233807601-233807610
21	BCL3	chr2:233781500-233781738	GM12878	blood:	n/a	n/a
22	BCLAF1	chr2:233820438-233820975	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:233784509-233784849	K562	blood:	n/a	n/a
24	BHLHE40	chr2:233802060-233802456	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:233822255-233822765	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:233820525-233820998	GM12878	blood:	n/a	n/a
27	BHLHE40	chr2:233802030-233802507	K562	blood:	n/a	n/a
28	CBX3	chr2:233801949-233802299	K562	blood:	n/a	n/a
29	CCNT2	chr2:233802084-233802284	K562	blood:	n/a	n/a
30	CEBPB	chr2:233766666-233767055	IMR90	lung:	n/a	n/a
31	CEBPB	chr2:233813844-233814035	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:233802021-233802326	Hela-S3	cervix:	n/a	chr2:233802153-233802164
33	CEBPB	chr2:233801996-233802287	K562	blood:	n/a	chr2:233802153-233802164
34	CEBPB	chr2:233821214-233821404	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:233801984-233802337	IMR90	lung:	n/a	chr2:233802153-233802164
36	CEBPB	chr2:233820388-233820941	GM12878	blood:	n/a	n/a
37	CEBPB	chr2:233801961-233802355	K562	blood:	n/a	chr2:233802153-233802164
38	CEBPB	chr2:233766742-233766992	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:233801933-233802279	K562	blood:	n/a	chr2:233802153-233802164
40	CEBPB	chr2:233766717-233767061	A549	lung:	n/a	n/a
41	CEBPB	chr2:233801991-233802328	HepG2	liver:	n/a	chr2:233802153-233802164
42	CEBPB	chr2:233766428-233767044	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr2:233801998-233802336	A549	lung:	n/a	chr2:233802153-233802164
44	CEBPD	chr2:233801943-233802314	K562	blood:	n/a	n/a
45	CHD2	chr2:233766474-233767106	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr2:233831792-233831953	K562	blood:	n/a	n/a
47	CTBP2	chr2:233791276-233792285	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr2:233790080-233790230	WERI-Rb-1	eye:	n/a	chr2:233790141-233790149 chr2:233790139-233790157
49	CTCF	chr2:233789867-233790376	MCF-7	breast:	n/a	chr2:233790141-233790149 chr2:233790139-233790157 chr2:233790279-233790287
50	CTCF	chr2:233766740-233766890	HCPEpiC	choroid plexus:	n/a	chr2:233766742-233766755

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:233765872-233765922	HCM	heart:	n/a
2	chr2:233766002-233766052	HMEC	breast:	n/a
3	chr2:233765872-233765922	HCM	heart:	n/a
4	chr2:233766002-233766052	HMEC	breast:	n/a
5	chr2:233793088-233793138	LNCaP	prostate:	n/a
6	chr2:233792394-233792444	HIPEpiC	eye:	n/a
7	chr2:233766658-233766708	MCF-7	breast:	n/a
8	chr2:233771125-233771175	SK-N-MC	brain:	n/a
9	chr2:233793120-233793170	LNCaP	prostate:	n/a
10	chr2:233759522-233759572	HIPEpiC	eye:	n/a
11	chr2:233771125-233771175	HEK293	kidney:	embryo
12	chr2:233796015-233796065	AG04449	skin:	fetal
13	chr2:233788622-233788672	Jurkat	blood:	n/a
14	chr2:233766658-233766708	SK-N-SH_RA	brain:	n/a
15	chr2:233793921-233793971	GM19239	blood:	n/a
16	chr2:233766118-233766168	HRCEpiC	kidney:	n/a
17	chr2:233793921-233793971	A549	lung:	n/a
18	chr2:233831578-233831628	HUVEC	blood vessel:	n/a
19	chr2:233790293-233790343	AG09309	skin:	n/a
20	chr2:233831578-233831628	HRE	kidney:	n/a
21	chr2:233759522-233759572	SKMC	muscle:	n/a
22	chr2:233790293-233790343	A549	lung:	n/a
23	chr2:233762570-233762620	HMEC	breast:	n/a
24	chr2:233791890-233791940	NH-A	brain:	n/a
25	chr2:233791890-233791940	AG10803	skin:	n/a
26	chr2:233766118-233766168	SAEC	small airway:	n/a
27	chr2:233765616-233765666	SK-N-MC	brain:	n/a
28	chr2:233765872-233765922	BJ	skin:	n/a
29	chr2:233759522-233759572	CMK	blood:	n/a
30	chr2:233794334-233794384	HIPEpiC	eye:	n/a
31	chr2:233790293-233790343	HIPEpiC	eye:	n/a
32	chr2:233770380-233770430	NH-A	brain:	n/a
33	chr2:233759544-233759594	LNCaP	prostate:	n/a
34	chr2:233764831-233764881	LNCaP	prostate:	n/a
35	chr2:233771125-233771175	GM12892	blood:	n/a
36	chr2:233831578-233831628	NHBE	bronchial:	n/a
37	chr2:233796015-233796065	PFSK-1	brain:	n/a
38	chr2:233815736-233815786	H1-hESC	embryonic stem cell:	embryo
39	chr2:233771125-233771175	AG04449	skin:	fetal
40	chr2:233765616-233765666	MCF-7	breast:	n/a
41	chr2:233790293-233790343	SKMC	muscle:	n/a
42	chr2:233793120-233793170	GM19239	blood:	n/a
43	chr2:233792732-233792782	ECC-1	luminal epithelium:	n/a
44	chr2:233766002-233766052	PrEC	prostate:	n/a
45	chr2:233759522-233759572	NHBE	bronchial:	n/a
46	chr2:233793311-233793361	RPTEC	kidney:	n/a
47	chr2:233793088-233793138	HCT-116	colon:	n/a
48	chr2:233766118-233766168	GM19239	blood:	n/a
49	chr2:233793088-233793138	HL-60	blood:	n/a
50	chr2:233792394-233792444	HRE	kidney:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233740222..233742044-chr2:233815379..233818053,2	MCF-7	breast:
2	chr2:233722855..233725653-chr2:233786870..233789525,2	MCF-7	breast:
3	chr2:233777266..233779765-chr2:233782803..233785720,2	MCF-7	breast:
4	chr2:233805404..233807222-chr2:233809028..233812019,2	K562	blood:
5	chr2:233784593..233788335-chr2:233796578..233799321,3	K562	blood:
6	chr2:233774109..233776065-chr2:233791221..233792997,2	MCF-7	breast:
7	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:
8	chr2:233766884..233768683-chr2:233770434..233772099,2	K562	blood:
9	chr2:233755071..233758000-chr2:233760102..233763754,5	MCF-7	breast:
10	chr2:233772342..233775238-chr2:233775790..233777657,2	K562	blood:
11	chr2:233825070..233828067-chr2:233831721..233833798,2	MCF-7	breast:
12	chr2:233806329..233808154-chr2:233815253..233817666,2	MCF-7	breast:
13	chr2:233814979..233817181-chr2:233820114..233821645,2	MCF-7	breast:
14	chr2:233814979..233817181-chr2:233820114..233821645,2	MCF-7	breast:
15	chr2:233755320..233757977-chr2:233759184..233761690,2	K562	blood:
16	chr2:233790048..233791601-chr2:233794420..233796079,2	K562	blood:
17	chr2:233828725..233831616-chr6:26223783..26225744,2	MCF-7	breast:
18	chr2:233825070..233828067-chr2:233831721..233833798,2	MCF-7	breast:
19	chr2:233736761..233738349-chr2:233835083..233836654,2	MCF-7	breast:
20	chr2:233790048..233791601-chr2:233794420..233796079,2	K562	blood:
21	chr2:233757939..233760469-chr2:233789148..233791862,2	K562	blood:
22	chr2:233805404..233807222-chr2:233809028..233812019,2	K562	blood:
23	chr2:233772342..233775238-chr2:233775790..233777657,2	K562	blood:
24	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:
25	chr2:233777266..233779765-chr2:233782803..233785720,2	MCF-7	breast:
26	chr2:233784593..233788335-chr2:233796578..233799321,3	K562	blood:
27	chr2:233746971..233749458-chr2:233835179..233837399,2	K562	blood:
28	chr2:233757939..233760469-chr2:233789148..233791862,2	K562	blood:
29	chr2:233754168..233758647-chr2:233758964..233761620,4	MCF-7	breast:
30	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
31	chr2:233806329..233808154-chr2:233815253..233817666,2	MCF-7	breast:
32	chr2:233744358..233746968-chr2:233756848..233759131,3	K562	blood:
33	chr2:233792964..233795634-chr2:233797623..233799367,2	K562	blood:
34	chr2:233792964..233795634-chr2:233797623..233799367,2	K562	blood:

No data

Variant related genes	Relation type
NGEF	TF binding region
NGEF	CpG island
ENSG00000066248	chromatin interactions
ENSG00000196966	chromatin interactions
ENSG00000182600	chromatin interactions

Extended variants
information (count: 3431 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3431 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568388058	chr2:233758340-233758341	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533824088	chr2:233758521-233758522	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547803885	chr2:233758562-233758563	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs570871446	chr2:233758586-233758587	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539812116	chr2:233758596-233758597	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138175439	chr2:233758622-233758623	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570122046	chr2:233758693-233758694	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112156580	chr2:233758703-233758704	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs375804035	chr2:233758781-233758782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1554218	chr2:233758884-233758885	Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs572729415	chr2:233758918-233758919	Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532016847	chr2:233758919-233758920	Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186135158	chr2:233758984-233758985	Weak transcription Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558397060	chr2:233759051-233759052	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373992788	chr2:233759114-233759115	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562287373	chr2:233759122-233759123	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2166440	chr2:233759155-233759156	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs562253414	chr2:233759156-233759157	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142816446	chr2:233759157-233759158	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542033727	chr2:233759186-233759187	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144379759	chr2:233759191-233759192	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527446222	chr2:233759261-233759262	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547394852	chr2:233759262-233759263	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570710145	chr2:233759265-233759266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190853640	chr2:233759342-233759343	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs895431	chr2:233759362-233759363	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148386218	chr2:233759374-233759375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535558461	chr2:233759381-233759382	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555964379	chr2:233759387-233759388	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571346605	chr2:233759396-233759397	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73108362	chr2:233759414-233759415	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73995714	chr2:233759425-233759426	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369789701	chr2:233759453-233759454	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113024350	chr2:233759458-233759459	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577877162	chr2:233759474-233759475	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545434272	chr2:233759486-233759487	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569496752	chr2:233759494-233759495	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200520703	chr2:233759495-233759496	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373313578	chr2:233759501-233759502	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576119488	chr2:233759509-233759510	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150452305	chr2:233759513-233759514	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183477550	chr2:233759514-233759515	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199543898	chr2:233759519-233759520	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143083048	chr2:233759522-233759523	Weak transcription Bivalent Enhancer Strong transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138598670	chr2:233759523-233759524	Weak transcription Bivalent Enhancer Strong transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs267599265	chr2:233759555-233759556	Weak transcription Bivalent Enhancer Strong transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200444732	chr2:233759588-233759589	Weak transcription Bivalent Enhancer Strong transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs527494178	chr2:233759597-233759598	Weak transcription Bivalent Enhancer Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547237288	chr2:233759642-233759643	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs75269119	chr2:233759650-233759651	Weak transcription Bivalent Enhancer Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233743200-233759600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr2:233745600-233759800	Strong transcription	Liver	Liver
3	chr2:233749400-233766000	Weak transcription	A549	lung
4	chr2:233750600-233759800	Strong transcription	HepG2	liver
5	chr2:233750800-233761000	Weak transcription	Stomach Mucosa	stomach
6	chr2:233751000-233766000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:233751200-233758400	Weak transcription	Fetal Brain Male	brain
8	chr2:233755400-233759800	Strong transcription	Colonic Mucosa	Colon
9	chr2:233755600-233759400	Strong transcription	Fetal Intestine Small	intestine
10	chr2:233756200-233763600	Weak transcription	NHLF	lung
11	chr2:233756400-233759200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:233756400-233763800	Weak transcription	Right Atrium	heart
13	chr2:233756600-233763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:233756800-233765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:233757000-233759000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:233757000-233759400	Strong transcription	Esophagus	oesophagus
18	chr2:233757000-233765400	Weak transcription	Pancreas	Pancrea
19	chr2:233757000-233766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:233757000-233766200	Weak transcription	Fetal Brain Female	brain
21	chr2:233757000-233766400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:233757200-233760200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:233757200-233763400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:233757400-233759800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:233757600-233763400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:233757800-233763400	Weak transcription	Gastric	stomach
28	chr2:233758200-233759000	Weak transcription	Spleen	Spleen
29	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:233758800-233759200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:233759000-233759800	Enhancers	Spleen	Spleen
32	chr2:233759000-233763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:233759400-233759800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:233759400-233759800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:233759400-233763400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:233759400-233765800	Weak transcription	Esophagus	oesophagus
38	chr2:233759600-233762800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:233759800-233760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:233759800-233763200	Weak transcription	Liver	Liver
41	chr2:233759800-233763400	Weak transcription	Spleen	Spleen
42	chr2:233759800-233766000	Weak transcription	Colonic Mucosa	Colon
43	chr2:233759800-233766400	Weak transcription	HepG2	liver
44	chr2:233760400-233761000	Enhancers	Brain Anterior Caudate	brain
45	chr2:233760600-233762600	Weak transcription	Fetal Brain Male	brain
46	chr2:233760800-233761400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:233761000-233765800	Weak transcription	Brain Anterior Caudate	brain
48	chr2:233761400-233761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:233761800-233763600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:233762800-233764000	Strong transcription	Duodenum Mucosa	Duodenum

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