Variant report

Variant	rs6587956
Chromosome Location	chr1:62624428-62624429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2264960	0.80[ASN][1000 genomes]
rs2457821	0.85[ASN][1000 genomes]
rs2457832	0.83[EUR][1000 genomes]
rs2476197	0.80[ASN][1000 genomes]
rs2481672	0.81[ASN][1000 genomes]
rs2481674	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2481675	0.85[ASN][1000 genomes]
rs2481680	0.83[EUR][1000 genomes]
rs2481706	0.83[EUR][1000 genomes]
rs2666491	0.80[ASN][1000 genomes]
rs2666493	0.80[ASN][1000 genomes]
rs2774932	0.80[ASN][1000 genomes]
rs2989012	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7520269	0.80[ASN][1000 genomes]
rs7530787	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1012683	chr1:62587852-62643998	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv511694	chr1:62622540-62624544	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
8	esv3452293	chr1:62622569-62624641	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
9	esv3452292	chr1:62622821-62624520	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
10	esv3452294	chr1:62622821-62624520	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
2	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
4	chr1:62595200-62625200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:62605000-62631800	Weak transcription	Lung	lung
6	chr1:62606400-62628600	Weak transcription	Stomach Mucosa	stomach
7	chr1:62607000-62630000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:62608400-62643600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:62608800-62627400	Weak transcription	Fetal Kidney	kidney
10	chr1:62612400-62629200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:62612400-62632600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:62612600-62625200	Weak transcription	GM12878-XiMat	blood
13	chr1:62613400-62636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:62614400-62628400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:62614400-62628800	Weak transcription	Ovary	ovary
16	chr1:62615200-62629000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:62615200-62629400	Weak transcription	NHEK	skin
18	chr1:62616000-62625400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:62616200-62628200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:62616200-62629400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:62616200-62631800	Weak transcription	Right Ventricle	heart
22	chr1:62616600-62626600	Weak transcription	Left Ventricle	heart
23	chr1:62616600-62627000	Weak transcription	Fetal Stomach	stomach
24	chr1:62617200-62632000	Weak transcription	HMEC	breast
25	chr1:62617800-62631600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:62618000-62625600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:62618000-62626600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:62618000-62628800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:62618200-62626000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:62618200-62629200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:62618200-62629600	Weak transcription	Primary T cells from cord blood	blood
32	chr1:62618200-62629800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:62618400-62629400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:62618600-62626600	Weak transcription	Aorta	Aorta
35	chr1:62618600-62629200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:62618600-62631400	Weak transcription	Gastric	stomach
37	chr1:62618600-62631800	Weak transcription	Pancreas	Pancrea
38	chr1:62618600-62637800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:62619200-62626600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:62619600-62625600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:62619600-62627200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:62619600-62627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:62621000-62625600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:62621000-62631000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:62621000-62632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:62621200-62627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:62621200-62628600	Weak transcription	Esophagus	oesophagus
48	chr1:62621200-62631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:62621200-62636600	Weak transcription	Fetal Intestine Large	intestine
50	chr1:62621400-62626400	Weak transcription	Liver	Liver

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