Variant report

Variant	rs17173651
Chromosome Location	chr7:150595644-150595645
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150595255..150596427-chr7:150685626..150686266,3	MCF-7	breast:
2	chr7:150595334..150596475-chr7:150715020..150715911,4	K562	blood:
3	chr7:150595209..150595856-chr7:150691392..150692242,2	K562	blood:
4	chr7:150595062..150596167-chr7:150685299..150686246,6	MCF-7	breast:
5	chr7:150594719..150596784-chr7:150671045..150673400,2	MCF-7	breast:
6	chr7:150573795..150574494-chr7:150595524..150596109,2	MCF-7	breast:
7	chr7:150595297..150595901-chr7:151000224..151001110,2	MCF-7	breast:
8	chr7:150595241..150596841-chr7:150652736..150654627,2	K562	blood:
9	chr7:150595118..150596336-chr7:150685225..150686536,14	K562	blood:
10	chr7:150595285..150595942-chr7:150638602..150639551,2	MCF-7	breast:
11	chr7:150593930..150595766-chr7:150657533..150659596,2	K562	blood:
12	chr7:150595552..150596160-chr7:150807947..150808760,2	K562	blood:
13	chr7:150589872..150593985-chr7:150595485..150599567,4	K562	blood:
14	chr7:150595154..150595801-chr7:150808802..150809459,2	K562	blood:
15	chr7:150595261..150596228-chr7:150705729..150706424,2	K562	blood:
16	chr7:150593671..150595670-chr7:150707603..150709523,2	K562	blood:
17	chr7:150595619..150596243-chr7:150682817..150683798,3	K562	blood:
18	chr7:150595224..150596309-chr7:150682667..150684079,9	MCF-7	breast:
19	chr7:150595266..150596292-chr7:150659766..150660896,3	K562	blood:
20	chr7:150588989..150591013-chr7:150594211..150596006,2	K562	blood:
21	chr7:150595230..150595809-chr7:150756656..150757191,2	K562	blood:
22	chr7:150595318..150596192-chr7:150714946..150715892,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164889	Chromatin interaction
ENSG00000055118	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10249447	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs10264535	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264668	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264799	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264902	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269643	1.00[JPT][hapmap]
rs10279036	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279051	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279186	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10452847	1.00[JPT][hapmap]
rs11760854	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11761679	0.94[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11762854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11763311	1.00[JPT][hapmap]
rs11764238	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767097	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11768123	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11770409	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11771771	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11772624	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773715	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12670489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12670945	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671154	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17173650	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]
rs17173652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17258890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2191754	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2215562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2215563	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2215564	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2373877	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2373879	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs28425705	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28670237	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28785222	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28847671	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888687	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888688	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28889269	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34549882	0.91[ASN][1000 genomes]
rs4266560	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4618613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492377	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492378	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492379	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492382	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492398	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66781963	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67091546	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73165560	0.86[ASN][1000 genomes]
rs73165563	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73165568	0.95[ASN][1000 genomes]
rs73165572	0.95[ASN][1000 genomes]
rs73165573	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73167603	0.95[ASN][1000 genomes]
rs732416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73468653	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73468655	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741063	1.00[JPT][hapmap]
rs758888	1.00[JPT][hapmap]
rs758892	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780509	0.84[CEU][hapmap];0.95[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7781870	1.00[JPT][hapmap]
rs917806	1.00[JPT][hapmap]
rs917807	1.00[JPT][hapmap]
rs9918664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv967441	chr7:150566747-150612420	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv970968	chr7:150589281-150612420	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17173651	ABCB8	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150592800-150596000	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:150593400-150595800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:150594000-150607400	Weak transcription	Right Atrium	heart
4	chr7:150594200-150596000	Enhancers	Primary B cells from cord blood	blood
5	chr7:150594400-150595800	Weak transcription	Spleen	Spleen
6	chr7:150595000-150596000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr7:150595000-150596000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:150595000-150596200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr7:150595200-150596000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:150595200-150596000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:150595200-150596000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:150595200-150596000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:150595200-150596000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr7:150595200-150596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:150595200-150596200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr7:150595200-150596200	Enhancers	Colon Smooth Muscle	Colon
17	chr7:150595200-150596200	Enhancers	GM12878-XiMat	blood
18	chr7:150595200-150596800	Bivalent Enhancer	Placenta	Placenta
19	chr7:150595400-150595800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr7:150595400-150595800	Enhancers	K562	blood
21	chr7:150595400-150596000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:150595400-150596000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:150595400-150596000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:150595400-150596000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr7:150595400-150596000	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr7:150595400-150596000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr7:150595400-150596000	Enhancers	Fetal Brain Male	brain
28	chr7:150595400-150596000	Enhancers	Fetal Heart	heart
29	chr7:150595400-150596000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
30	chr7:150595400-150596000	Enhancers	Right Ventricle	heart
31	chr7:150595400-150596000	Bivalent Enhancer	A549	lung
32	chr7:150595400-150596200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:150595400-150596200	Enhancers	Brain Anterior Caudate	brain
34	chr7:150595400-150596200	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:150595400-150596200	Enhancers	Esophagus	oesophagus
36	chr7:150595400-150596200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr7:150595400-150596200	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr7:150595400-150596200	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr7:150595400-150596400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:150595400-150596400	Enhancers	Fetal Intestine Small	intestine
41	chr7:150595400-150596600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr7:150595600-150595800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr7:150595600-150595800	Enhancers	HMEC	breast
44	chr7:150595600-150596000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr7:150595600-150596000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr7:150595600-150596000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr7:150595600-150596000	Enhancers	Liver	Liver
48	chr7:150595600-150596000	Enhancers	Colonic Mucosa	Colon
49	chr7:150595600-150596000	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr7:150595600-150596000	Enhancers	Hela-S3	cervix

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