Variant report

Variant	esv3340115
Chromosome Location	chr2:73870416-73930142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:883)
CpG islands
(count:978)
Chromatin interactive
region (count:17)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:73907372-73907682	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:73907394-73907641	K562	blood:	n/a	n/a
3	ATF1	chr2:73928292-73928546	K562	blood:	n/a	n/a
4	ATF2	chr2:73901924-73902346	GM12878	blood:	n/a	n/a
5	ATF3	chr2:73903390-73903706	K562	blood:	n/a	n/a
6	BACH1	chr2:73907465-73907526	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr2:73901777-73902343	GM12878	blood:	n/a	n/a
8	BATF	chr2:73901924-73902350	GM12878	blood:	n/a	n/a
9	BATF	chr2:73917830-73918048	GM12878	blood:	n/a	n/a
10	BATF	chr2:73911582-73911820	GM12878	blood:	n/a	chr2:73911707-73911718
11	BCL11A	chr2:73901938-73902290	GM12878	blood:	n/a	chr2:73902211-73902220 chr2:73902210-73902219
12	BCL11A	chr2:73915732-73916019	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:73928154-73928613	K562	blood:	n/a	n/a
14	BHLHE40	chr2:73917955-73917976	K562	blood:	n/a	n/a
15	BHLHE40	chr2:73871815-73871977	K562	blood:	n/a	n/a
16	CBX3	chr2:73928047-73928946	K562	blood:	n/a	n/a
17	CBX3	chr2:73925209-73925579	K562	blood:	n/a	n/a
18	CBX3	chr2:73925299-73925547	K562	blood:	n/a	n/a
19	CEBPB	chr2:73927361-73927552	HepG2	liver:	n/a	chr2:73927522-73927535
20	CEBPB	chr2:73903437-73903637	H1-hESC	embryonic stem cell:	n/a	chr2:73903539-73903550
21	CEBPB	chr2:73927189-73927886	MCF-7	breast:	n/a	chr2:73927522-73927535
22	CEBPB	chr2:73903402-73903602	Hela-S3	cervix:	n/a	chr2:73903539-73903550
23	CEBPB	chr2:73877993-73878055	K562	blood:	n/a	n/a
24	CEBPB	chr2:73903375-73903643	IMR90	lung:	n/a	chr2:73903539-73903550
25	CEBPB	chr2:73877771-73878092	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr2:73927206-73927852	MCF-7	breast:	n/a	chr2:73927522-73927535
27	CEBPB	chr2:73900871-73900878	A549	lung:	n/a	n/a
28	CEBPB	chr2:73903369-73903615	HepG2	liver:	n/a	chr2:73903539-73903550
29	CEBPB	chr2:73903410-73903643	K562	blood:	n/a	chr2:73903539-73903550
30	CEBPB	chr2:73877660-73878170	IMR90	lung:	n/a	n/a
31	CEBPB	chr2:73900813-73900977	K562	blood:	n/a	chr2:73900873-73900886
32	CEBPB	chr2:73903365-73903683	K562	blood:	n/a	chr2:73903539-73903550
33	CEBPB	chr2:73903414-73903663	A549	lung:	n/a	chr2:73903539-73903550
34	CEBPB	chr2:73926566-73926627	A549	lung:	n/a	n/a
35	CEBPB	chr2:73903357-73903734	K562	blood:	n/a	chr2:73903539-73903550
36	CEBPB	chr2:73877646-73878600	HepG2	liver:	n/a	chr2:73878449-73878460
37	CEBPB	chr2:73877667-73878169	A549	lung:	n/a	n/a
38	CTCF	chr2:73911960-73912110	HMF	breast:	n/a	n/a
39	CTCF	chr2:73874960-73875110	HepG2	liver:	n/a	n/a
40	CTCF	chr2:73917844-73918127	Fibrobl	skin:	n/a	chr2:73917996-73918014 chr2:73917998-73918019 chr2:73917997-73918013 chr2:73918001-73918009 chr2:73917999-73918012
41	CTCF	chr2:73907420-73907570	HA-sp	spinal cord:	n/a	chr2:73907497-73907513 chr2:73907499-73907512 chr2:73907498-73907519 chr2:73907496-73907514
42	CTCF	chr2:73879072-73879232	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr2:73907440-73907590	AG09319	gingival:	n/a	chr2:73907497-73907513 chr2:73907499-73907512 chr2:73907498-73907519 chr2:73907496-73907514
44	CTCF	chr2:73907440-73907590	GM12865	blood:	n/a	chr2:73907497-73907513 chr2:73907499-73907512 chr2:73907498-73907519 chr2:73907496-73907514
45	CTCF	chr2:73907391-73907621	ProgFib	skin:	n/a	chr2:73907497-73907513 chr2:73907499-73907512 chr2:73907498-73907519 chr2:73907496-73907514
46	CTCF	chr2:73912180-73912330	GM12873	blood:	n/a	n/a
47	CTCF	chr2:73912160-73912310	GM06990	blood:	n/a	n/a
48	CTCF	chr2:73917940-73918090	HPAF	blood vessel:	n/a	chr2:73917996-73918014 chr2:73917998-73918019 chr2:73917997-73918013 chr2:73918001-73918009 chr2:73917999-73918012
49	CTCF	chr2:73912240-73912390	AG04450	lung:	n/a	n/a
50	CTCF	chr2:73912148-73912383	HepG2	liver:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73871230-73871280	NHBE	bronchial:	n/a
2	chr2:73871782-73871832	AoSMC	blood vessel:	n/a
3	chr2:73871230-73871280	NHBE	bronchial:	n/a
4	chr2:73871782-73871832	AoSMC	blood vessel:	n/a
5	chr2:73927710-73927760	GM12878	blood:	n/a
6	chr2:73871309-73871359	HNPCEpiC	eye:	n/a
7	chr2:73871915-73871965	U87	brain:	n/a
8	chr2:73928500-73928550	HCT-116	colon:	n/a
9	chr2:73870653-73870703	AG09319	gingival:	n/a
10	chr2:73871782-73871832	GM12892	blood:	n/a
11	chr2:73929892-73929942	HCM	heart:	n/a
12	chr2:73871782-73871832	IMR90	lung:	fetal
13	chr2:73870653-73870703	HepG2	liver:	n/a
14	chr2:73871942-73871992	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:73929634-73929684	AG04450	lung:	fetal
16	chr2:73871309-73871359	HepG2	liver:	n/a
17	chr2:73929765-73929815	ovcar-3	ovarian:	n/a
18	chr2:73871849-73871899	HRE	kidney:	n/a
19	chr2:73927710-73927760	Hela-S3	cervix:	n/a
20	chr2:73871782-73871832	Hela-S3	cervix:	n/a
21	chr2:73871782-73871832	HepG2	liver:	n/a
22	chr2:73871942-73871992	PrEC	prostate:	n/a
23	chr2:73871915-73871965	HL-60	blood:	n/a
24	chr2:73907327-73907377	T-47D	breast:	n/a
25	chr2:73928348-73928398	Caco-2	colon:	n/a
26	chr2:73871230-73871280	SKMC	muscle:	n/a
27	chr2:73928500-73928550	GM06990	blood:	n/a
28	chr2:73907327-73907377	MCF10A-Er-Src	breast:	n/a
29	chr2:73929634-73929684	AG09319	gingival:	n/a
30	chr2:73871849-73871899	NB4	blood:	n/a
31	chr2:73907327-73907377	AG09309	skin:	n/a
32	chr2:73929634-73929684	HUVEC	blood vessel:	n/a
33	chr2:73871782-73871832	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:73927710-73927760	HepG2	liver:	n/a
35	chr2:73928348-73928398	HAEpiC	amniotic membrane:	n/a
36	chr2:73929765-73929815	PFSK-1	brain:	n/a
37	chr2:73871309-73871359	HMEC	breast:	n/a
38	chr2:73871230-73871280	AG09319	gingival:	n/a
39	chr2:73907327-73907377	BJ	skin:	n/a
40	chr2:73929765-73929815	HUVEC	blood vessel:	n/a
41	chr2:73871309-73871359	CMK	blood:	n/a
42	chr2:73871942-73871992	HCF	heart:	n/a
43	chr2:73871230-73871280	NH-A	brain:	n/a
44	chr2:73871782-73871832	ProgFib	skin:	n/a
45	chr2:73871782-73871832	HCPEpiC	choroid plexus:	n/a
46	chr2:73871942-73871992	Caco-2	colon:	n/a
47	chr2:73871849-73871899	U87	brain:	n/a
48	chr2:73871942-73871992	MCF10A-Er-Src	breast:	n/a
49	chr2:73871915-73871965	A549	lung:	n/a
50	chr2:73928492-73928542	U87	brain:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73880223..73882700-chr2:73884731..73886778,2	K562	blood:
2	chr2:73878117..73880708-chr2:73881565..73884435,2	K562	blood:
3	chr2:73906056..73907836-chr2:74356105..74358909,2	MCF-7	breast:
4	chr2:73868945..73872912-chr2:73927731..73932752,4	MCF-7	breast:
5	chr2:73868945..73872912-chr2:73927731..73932752,4	MCF-7	breast:
6	chr2:73846810..73847325-chr2:73907451..73907990,3	K562	blood:
7	chr2:73880223..73882700-chr2:73884731..73886778,2	K562	blood:
8	chr2:73857783..73858474-chr2:73917561..73918197,2	MCF-7	breast:
9	chr2:73888338..73891192-chr2:73900081..73901857,2	K562	blood:
10	chr2:73850004..73850829-chr2:73907369..73907993,2	K562	blood:
11	chr2:73907051..73907568-chr2:74006793..74007607,2	MCF-7	breast:
12	chr2:73878117..73880708-chr2:73881565..73884435,2	K562	blood:
13	chr2:73920861..73923082-chr2:73929614..73932212,2	K562	blood:
14	chr2:73907073..73907951-chr2:74066396..74067279,2	MCF-7	breast:
15	chr2:73920861..73923082-chr2:73929614..73932212,2	K562	blood:
16	chr2:73846839..73847625-chr2:73907303..73907990,2	MCF-7	breast:
17	chr2:73888338..73891192-chr2:73900081..73901857,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALMS1-3	chr2:73899935-73900177	NR_003683
2	lnc-ALMS1-3	chr2:73900940-73901123	NR_003683
3	lnc-ALMS1-3	chr2:73912088-73912694	NR_003683
4	lnc-ALMS1-3	chr2:73872046-73872281	NR_003683
5	lnc-ALMS1-3	chr2:73898207-73898277	NR_003683
6	lnc-ALMS1-3	chr2:73899436-73899622	NR_003683
7	lnc-C2orf78-1	chr2:73927556-73928129	ENSG00000251346
8	lnc-ALMS1-3	chr2:73901969-73902032	NR_003683

No data

Variant related genes	Relation type
ALMS1P	TF binding region
ENSG00000204872	TF binding region
NAT8	TF binding region
ALMS1P	CpG island
ENSG00000204872	CpG island
NAT8	CpG island
ENSG00000144035	chromatin interactions
ENSG00000163016	chromatin interactions
ENSG00000204872	chromatin interactions
ENSG00000144048	chromatin interactions
UBE2I	miRNA target sites

Extended variants
information (count: 2190 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2190 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139909119	chr2:73870515-73870516	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565778899	chr2:73870532-73870533	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs114029547	chr2:73870573-73870574	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs555270041	chr2:73870610-73870611	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs28576012	chr2:73870697-73870698	Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs141773463	chr2:73870836-73870837	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs538011437	chr2:73870843-73870844	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs185045903	chr2:73870846-73870847	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs552083047	chr2:73870858-73870859	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs544822686	chr2:73870865-73870866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553793076	chr2:73870867-73870868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572102872	chr2:73870880-73870881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543318699	chr2:73870900-73870901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4852311	chr2:73870929-73870930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576677733	chr2:73870934-73870935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373104227	chr2:73870940-73870941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76220488	chr2:73870958-73870959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147942097	chr2:73870960-73870961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57018765	chr2:73870961-73870962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188488294	chr2:73870963-73870964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543951278	chr2:73870985-73870986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs397834868	chr2:73871012-73871013	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189556640	chr2:73871019-73871020	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532632243	chr2:73871032-73871033	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547521380	chr2:73871065-73871066	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114513719	chr2:73871069-73871070	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72913482	chr2:73871076-73871077	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370916533	chr2:73871082-73871083	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567510011	chr2:73871120-73871121	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537752629	chr2:73871121-73871122	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375462898	chr2:73871122-73871123	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181006338	chr2:73871177-73871178	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376399525	chr2:73871216-73871217	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183721064	chr2:73871225-73871226	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114674749	chr2:73871231-73871232	Bivalent Enhancer Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs59962045	chr2:73871257-73871258	Bivalent Enhancer Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189520281	chr2:73871294-73871295	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572191973	chr2:73871310-73871311	Bivalent Enhancer Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs181828419	chr2:73871317-73871318	Bivalent Enhancer Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs373571747	chr2:73871340-73871341	Bivalent Enhancer Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs186095591	chr2:73871350-73871351	Bivalent Enhancer Weak transcription Enhancers	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs12991161	chr2:73871371-73871372	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs138911989	chr2:73871372-73871373	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556507669	chr2:73871379-73871380	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376781229	chr2:73871380-73871381	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565462557	chr2:73871410-73871411	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577395523	chr2:73871412-73871413	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541249215	chr2:73871442-73871443	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191655249	chr2:73871487-73871488	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181703439	chr2:73871501-73871502	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73866200-73870600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:73866400-73871200	Enhancers	Fetal Lung	lung
3	chr2:73867000-73872200	Enhancers	Ovary	ovary
4	chr2:73867600-73872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:73868400-73871000	Weak transcription	Spleen	Spleen
6	chr2:73868400-73871400	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:73868600-73877000	Weak transcription	Gastric	stomach
8	chr2:73869600-73872000	Enhancers	Lung	lung
9	chr2:73870000-73871000	Weak transcription	Placenta	Placenta
10	chr2:73870000-73872200	Weak transcription	Left Ventricle	heart
11	chr2:73870200-73871200	Enhancers	Liver	Liver
12	chr2:73870200-73871200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:73870200-73871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:73870200-73872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:73870200-73874600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:73870400-73871800	Enhancers	HepG2	liver
17	chr2:73870600-73873800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:73871000-73871200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:73871000-73871200	Enhancers	Spleen	Spleen
20	chr2:73871000-73871400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:73871000-73871400	Enhancers	Placenta	Placenta
22	chr2:73871000-73872200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr2:73871200-73871400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:73871200-73871800	Weak transcription	Spleen	Spleen
25	chr2:73871200-73878800	Weak transcription	Liver	Liver
26	chr2:73871800-73872000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:73871800-73872000	Bivalent Enhancer	HepG2	liver
28	chr2:73874600-73876000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:73875000-73875200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:73876000-73880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:73876200-73876400	Enhancers	Fetal Lung	lung
32	chr2:73876400-73877800	Weak transcription	Fetal Lung	lung
33	chr2:73877800-73878600	Enhancers	Fetal Lung	lung
34	chr2:73878200-73878800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr2:73878200-73879200	Enhancers	GM12878-XiMat	blood
36	chr2:73878800-73880000	Enhancers	Liver	Liver
37	chr2:73879200-73881600	Weak transcription	GM12878-XiMat	blood
38	chr2:73881600-73882000	Enhancers	GM12878-XiMat	blood
39	chr2:73890800-73891200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:73896200-73905200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:73896800-73897800	Enhancers	HepG2	liver
42	chr2:73897000-73897200	Enhancers	Gastric	stomach
43	chr2:73897200-73904600	Weak transcription	Gastric	stomach
44	chr2:73897400-73899600	Weak transcription	Fetal Brain Female	brain
45	chr2:73897600-73899200	Weak transcription	Ovary	ovary
46	chr2:73898000-73898600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:73898000-73899600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:73898000-73899800	Weak transcription	Brain Angular Gyrus	brain
49	chr2:73898200-73899800	Weak transcription	Liver	Liver
50	chr2:73898200-73899800	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links