Variant report

Variant	rs2252610
Chromosome Location	chr2:128366636-128366637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128366594-128366644	LNCaP	prostate:	n/a
2	chr2:128366594-128366644	HEEpiC	esophagus:	n/a
3	chr2:128366594-128366644	ECC-1	luminal epithelium:	n/a
4	chr2:128366594-128366644	HAEpiC	amniotic membrane:	n/a
5	chr2:128366594-128366644	AoSMC	blood vessel:	n/a
6	chr2:128366594-128366644	NHBE	bronchial:	n/a
7	chr2:128366594-128366644	T-47D	breast:	n/a
8	chr2:128366594-128366644	GM06990	blood:	n/a
9	chr2:128366594-128366644	HCT-116	colon:	n/a
10	chr2:128366594-128366644	HUVEC	blood vessel:	n/a
11	chr2:128366594-128366644	GM12891	blood:	n/a
12	chr2:128366594-128366644	AG10803	skin:	n/a
13	chr2:128366594-128366644	GM12892	blood:	n/a
14	chr2:128366594-128366644	A549	lung:	n/a
15	chr2:128366594-128366644	IMR90	lung:	fetal
16	chr2:128366594-128366644	HCPEpiC	choroid plexus:	n/a
17	chr2:128366594-128366644	HL-60	blood:	n/a
18	chr2:128366594-128366644	BE2_C	brain:	n/a
19	chr2:128366594-128366644	MCF-7	breast:	n/a
20	chr2:128366594-128366644	K562	blood:	n/a
21	chr2:128366594-128366644	SK-N-MC	brain:	n/a
22	chr2:128366594-128366644	Caco-2	colon:	n/a
23	chr2:128366594-128366644	AG09309	skin:	n/a
24	chr2:128366594-128366644	HMEC	breast:	n/a
25	chr2:128366594-128366644	BJ	skin:	n/a
26	chr2:128366594-128366644	NHDF-neo	bronchial:	n/a
27	chr2:128366594-128366644	PANC-1	pancreas:	n/a
28	chr2:128366594-128366644	Hepatocyte	liver:	n/a
29	chr2:128366594-128366644	HIPEpiC	eye:	n/a
30	chr2:128366594-128366644	SK-N-SH	brain:	n/a
31	chr2:128366594-128366644	AG09319	gingival:	n/a
32	chr2:128366594-128366644	HNPCEpiC	eye:	n/a
33	chr2:128366594-128366644	ProgFib	skin:	n/a
34	chr2:128366594-128366644	MCF10A-Er-Src	breast:	n/a
35	chr2:128366594-128366644	Hela-S3	cervix:	n/a
36	chr2:128366594-128366644	NB4	blood:	n/a
37	chr2:128366594-128366644	ovcar-3	ovarian:	n/a
38	chr2:128366594-128366644	RPTEC	kidney:	n/a
39	chr2:128366594-128366644	HCM	heart:	n/a
40	chr2:128366594-128366644	PrEC	prostate:	n/a
41	chr2:128366594-128366644	NT2-D1	testis:	n/a
42	chr2:128366594-128366644	AG04450	lung:	fetal
43	chr2:128366594-128366644	CMK	blood:	n/a
44	chr2:128366594-128366644	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:128366594-128366644	PFSK-1	brain:	n/a
46	chr2:128366594-128366644	Jurkat	blood:	n/a
47	chr2:128366594-128366644	SK-N-SH_RA	brain:	n/a
48	chr2:128366594-128366644	HRCEpiC	kidney:	n/a
49	chr2:128366594-128366644	HepG2	liver:	n/a
50	chr2:128366594-128366644	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128364338..128366836-chr2:212139739..212142572,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR17-1	chr2:128366260-128366776	l_1945_chr2:128361165-128366776_ovary

No data

Variant related genes	Relation type
MYO7B	CpG island

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10928774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10928775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11675513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11684148	0.92[ASN][1000 genomes]
rs11691981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12052293	1.00[ASN][1000 genomes]
rs12052654	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12053039	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12053248	0.96[ASN][1000 genomes]
rs12999486	0.82[JPT][hapmap]
rs13004906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13006453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13015157	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13025791	0.92[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs13025959	0.93[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs13034190	0.92[ASN][1000 genomes]
rs17261964	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2253005	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255161	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs2264726	0.85[ASN][1000 genomes]
rs2264727	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36108975	1.00[ASN][1000 genomes]
rs4662585	1.00[JPT][hapmap]
rs4662748	1.00[ASN][1000 genomes]
rs705092	0.99[ASN][1000 genomes]
rs777432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930139	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015051	chr2:128295320-128372079	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1011937	chr2:128295320-128405921	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1008294	chr2:128295320-128420654	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1007207	chr2:128295320-128429775	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1003004	chr2:128295320-128474326	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv999302	chr2:128299079-128372079	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1008457	chr2:128299079-128405921	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1009514	chr2:128299079-128420654	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1006421	chr2:128299079-128473079	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1001624	chr2:128306660-128420654	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv875016	chr2:128330458-128401091	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv875017	chr2:128330458-128445585	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv875018	chr2:128330458-128465547	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	nsv518085	chr2:128334413-128404860	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv583037	chr2:128334470-128401091	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv875019	chr2:128340855-128408170	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv875020	chr2:128340855-128445585	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv875021	chr2:128340855-128465547	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
21	nsv470482	chr2:128350808-128465547	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2252610	GPR17	cis	Artery Aorta	GTEx
rs2252610	GPR17	cis	lung	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128328000-128370200	Weak transcription	Small Intestine	intestine
2	chr2:128334400-128376400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:128358800-128369000	Strong transcription	Fetal Intestine Large	intestine
4	chr2:128359000-128376000	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr2:128359200-128395200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:128360000-128375000	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:128362000-128367600	Strong transcription	Fetal Intestine Small	intestine
8	chr2:128363200-128367400	Enhancers	Placenta	Placenta
9	chr2:128364400-128368200	Weak transcription	HSMMtube	muscle
10	chr2:128364600-128370400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:128364800-128373200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:128365200-128368800	Strong transcription	Colonic Mucosa	Colon
13	chr2:128365400-128367800	Enhancers	Fetal Thymus	thymus
14	chr2:128365600-128367400	Weak transcription	Spleen	Spleen
15	chr2:128365800-128367200	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:128366200-128367000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:128366200-128367800	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr2:128366400-128366800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:128366400-128366800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:128366400-128367000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:128366400-128367200	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr2:128366400-128367600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:128366400-128367600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:128366400-128368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:128366400-128368200	Enhancers	Primary T cells from cord blood	blood
26	chr2:128366600-128367000	Enhancers	Primary B cells from cord blood	blood
27	chr2:128366600-128367400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr2:128366600-128367400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:128366600-128367800	Enhancers	Thymus	Thymus

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