Variant report

Variant	rs17169553
Chromosome Location	chr7:7739206-7739207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7737251..7739493-chr7:7744251..7746745,3	K562	blood:
2	chr7:7737993..7740091-chr7:7743068..7745751,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1045580	1.00[CHB][hapmap]
rs10486185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762695	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11763947	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11765275	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702639	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13225697	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13234396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13245945	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13247039	0.93[EUR][1000 genomes]
rs1468760	1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs1468761	1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs17136437	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17136498	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17169194	0.89[JPT][hapmap]
rs17169361	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17169446	1.00[AFR][1000 genomes]
rs17169495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17169565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546242	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1859602	1.00[CHB][hapmap]
rs1859603	1.00[CHB][hapmap]
rs1859604	1.00[CHB][hapmap]
rs2110554	1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28912668	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28912672	0.84[ASN][1000 genomes]
rs28912694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28914168	1.00[ASN][1000 genomes]
rs28914835	0.93[EUR][1000 genomes]
rs28915072	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28915973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28915985	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28916271	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs28992771	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28992773	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs28992774	1.00[AFR][1000 genomes]
rs34124547	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35209697	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35639902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35823742	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3757526	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4720745	1.00[CHB][hapmap]
rs4720746	1.00[CHB][hapmap]
rs4720747	1.00[CHB][hapmap]
rs62432576	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62432577	1.00[ASN][1000 genomes]
rs62432578	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62432579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62432580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62432581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62432607	0.89[EUR][1000 genomes]
rs62452504	1.00[AFR][1000 genomes]
rs62452508	1.00[AFR][1000 genomes]
rs62452509	1.00[AFR][1000 genomes]
rs62452512	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62452515	0.90[ASN][1000 genomes]
rs6950845	1.00[CHB][hapmap]
rs6955624	1.00[CHB][hapmap]
rs6964727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972655	1.00[CHB][hapmap]
rs7791543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794467	1.00[CHB][hapmap]
rs7798277	0.87[EUR][1000 genomes]
rs7800009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7810800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9648617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692373	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7706800-7743200	Weak transcription	Gastric	stomach
2	chr7:7717800-7749000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:7721600-7748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:7722000-7750600	Weak transcription	Primary B cells from cord blood	blood
5	chr7:7722600-7744400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:7722600-7745600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:7722800-7742400	Weak transcription	Pancreas	Pancrea
8	chr7:7726800-7745800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:7727600-7741000	Weak transcription	Brain Germinal Matrix	brain
10	chr7:7727800-7748800	Weak transcription	Small Intestine	intestine
11	chr7:7729000-7743400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:7734600-7740000	Enhancers	Fetal Heart	heart
13	chr7:7735400-7739600	Weak transcription	Right Ventricle	heart
14	chr7:7735400-7742400	Weak transcription	Ovary	ovary
15	chr7:7735400-7746600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:7735400-7746800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:7735600-7744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:7736000-7739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:7736200-7739400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:7736400-7742400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:7736400-7746600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:7736600-7743200	Weak transcription	Psoas Muscle	Psoas
23	chr7:7736600-7744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:7736800-7739400	Enhancers	Hela-S3	cervix
25	chr7:7736800-7744400	Weak transcription	NHEK	skin
26	chr7:7736800-7745400	Weak transcription	HSMM	muscle
27	chr7:7736800-7747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:7736800-7748600	Weak transcription	Stomach Mucosa	stomach
29	chr7:7737000-7739800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:7737000-7742400	Weak transcription	HepG2	liver
31	chr7:7737000-7746200	Weak transcription	HSMMtube	muscle
32	chr7:7737000-7746400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:7737000-7746800	Weak transcription	Aorta	Aorta
34	chr7:7737400-7740800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:7737400-7745600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:7737600-7747000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:7737600-7778800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:7738400-7741200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:7738600-7739400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:7738600-7739600	Enhancers	Colon Smooth Muscle	Colon
41	chr7:7738600-7740000	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:7738600-7740000	Enhancers	Adipose Nuclei	Adipose
43	chr7:7739000-7739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:7739000-7739600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr7:7739000-7739600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:7739000-7739600	Enhancers	Osteobl	bone
47	chr7:7739000-7740000	Flanking Active TSS	GM12878-XiMat	blood
48	chr7:7739000-7743200	Weak transcription	Left Ventricle	heart
49	chr7:7739200-7739400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:7739200-7739400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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