Variant report

Variant	rs17171637
Chromosome Location	chr7:40020460-40020461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39989834..39993162-chr7:40018221..40020870,3	K562	blood:
2	chr7:39988014..39992779-chr7:40016991..40021232,5	K562	blood:

Variant related genes	Relation type
ENSG00000065883	Chromatin interaction
ENSG00000259826	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10233552	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10246466	0.80[CHB][hapmap]
rs10252631	0.97[EUR][1000 genomes]
rs10261984	0.82[EUR][1000 genomes]
rs10272641	0.90[CHD][hapmap]
rs10275761	0.80[CHB][hapmap]
rs1082028	0.94[ASN][1000 genomes]
rs1082030	0.85[ASN][1000 genomes]
rs10951623	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951624	0.97[EUR][1000 genomes]
rs10951625	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11972983	1.00[EUR][1000 genomes]
rs11977756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983287	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12530835	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12531761	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12531774	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12534103	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12535281	0.87[EUR][1000 genomes]
rs12536190	1.00[EUR][1000 genomes]
rs12536349	0.92[EUR][1000 genomes]
rs12536726	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12537125	1.00[EUR][1000 genomes]
rs12537320	1.00[EUR][1000 genomes]
rs12539956	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1257698	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1257699	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12666454	0.98[EUR][1000 genomes]
rs12669872	1.00[EUR][1000 genomes]
rs12672040	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672136	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12672142	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13438258	0.87[EUR][1000 genomes]
rs13438262	0.87[EUR][1000 genomes]
rs13438324	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17171645	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17171646	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17171658	0.87[CHD][hapmap]
rs17496429	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17496670	0.97[EUR][1000 genomes]
rs17496733	1.00[EUR][1000 genomes]
rs17537767	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538125	1.00[EUR][1000 genomes]
rs2015842	1.00[EUR][1000 genomes]
rs2052097	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs2159489	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2302341	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2329615	0.87[EUR][1000 genomes]
rs28627647	0.84[EUR][1000 genomes]
rs28879668	0.87[EUR][1000 genomes]
rs3735135	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800799	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs3801238	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs3847019	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3911836	1.00[EUR][1000 genomes]
rs3911889	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs4344004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720344	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4720347	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[EUR][1000 genomes]
rs4720349	0.97[EUR][1000 genomes]
rs4723923	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723925	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4723927	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4723928	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60315659	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6952597	0.82[CHD][hapmap]
rs6961040	0.87[EUR][1000 genomes]
rs6963973	0.87[EUR][1000 genomes]
rs6967332	0.87[EUR][1000 genomes]
rs6970469	0.84[EUR][1000 genomes]
rs731848	0.92[CHD][hapmap]
rs758696	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs773379	0.87[ASN][1000 genomes]
rs773381	0.88[ASN][1000 genomes]
rs773385	0.96[ASN][1000 genomes]
rs773386	0.97[ASN][1000 genomes]
rs773393	0.80[CHB][hapmap];0.92[CHD][hapmap];0.83[ASN][1000 genomes]
rs773397	0.83[ASN][1000 genomes]
rs773403	0.91[ASN][1000 genomes]
rs773411	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs773414	0.94[ASN][1000 genomes]
rs773415	0.85[ASN][1000 genomes]
rs773424	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7779663	1.00[EUR][1000 genomes]
rs7797041	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs7799846	0.80[CHB][hapmap];0.86[ASN][1000 genomes]
rs940272	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39994200-40027200	Weak transcription	HSMM	muscle
3	chr7:39995200-40042600	Weak transcription	K562	blood
4	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
6	chr7:40005600-40021000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:40005600-40021000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
9	chr7:40007200-40027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:40007600-40027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:40009400-40020800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:40009400-40027200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:40009400-40027400	Weak transcription	Osteobl	bone
14	chr7:40009600-40027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:40009800-40027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:40010000-40024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:40010000-40026800	Weak transcription	NHEK	skin
18	chr7:40010200-40025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:40010400-40027200	Weak transcription	Esophagus	oesophagus
20	chr7:40011000-40021000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:40011200-40023600	Weak transcription	Lung	lung
22	chr7:40011200-40025400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:40011400-40027400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:40014200-40021200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:40014800-40021200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:40015000-40023600	Weak transcription	Fetal Intestine Small	intestine
27	chr7:40016000-40021000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:40016600-40021000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:40016800-40027200	Weak transcription	A549	lung
30	chr7:40017400-40027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:40017600-40024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:40017800-40026800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:40017800-40027400	Weak transcription	Liver	Liver
34	chr7:40018000-40025000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:40018000-40025200	Weak transcription	Small Intestine	intestine
36	chr7:40018400-40024600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:40018400-40024600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:40018400-40027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:40018400-40027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:40018600-40023200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:40018600-40023200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:40018600-40023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:40018600-40023800	Weak transcription	Psoas Muscle	Psoas
44	chr7:40018600-40024400	Weak transcription	Right Ventricle	heart
45	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:40018800-40020600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr7:40018800-40021000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:40018800-40023200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:40018800-40025200	Weak transcription	Adipose Nuclei	Adipose
50	chr7:40018800-40027400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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