Variant report

Variant	rs6862320
Chromosome Location	chr5:118674055-118674056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118604157..118605993-chr5:118671344..118674136,2	MCF-7	breast:
2	chr5:118672680..118674679-chr5:118676635..118678463,2	K562	blood:
3	chr5:118666908..118671699-chr5:118672968..118679055,7	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10052899	1.00[JPT][hapmap]
rs10052962	1.00[JPT][hapmap]
rs10060971	1.00[JPT][hapmap]
rs11950366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954854	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955852	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956215	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11956285	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958957	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959451	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959729	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145198	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813302	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs3813303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4392658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161062	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60507834	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756572	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535134	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67154545	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311526	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67708265	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6861849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868688	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868702	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869017	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786136	0.95[EUR][1000 genomes]
rs72786141	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786142	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786143	0.95[EUR][1000 genomes]
rs72786144	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786149	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786152	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786157	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786159	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786161	0.95[EUR][1000 genomes]
rs73235259	0.89[ASN][1000 genomes]
rs73235260	0.89[ASN][1000 genomes]
rs73790807	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703998	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704326	0.89[ASN][1000 genomes]
rs7704334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710939	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711101	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7711312	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712227	0.95[EUR][1000 genomes]
rs7719094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7721976	0.89[ASN][1000 genomes]
rs7722687	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722699	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723976	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724082	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724204	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725244	0.95[EUR][1000 genomes]
rs7725878	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:118660200-118678600	Weak transcription	HepG2	liver
4	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
5	chr5:118665400-118677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:118669200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:118669400-118677600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:118670000-118675200	Enhancers	Dnd41	blood
9	chr5:118670400-118678200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:118670800-118675800	Weak transcription	Lung	lung
11	chr5:118670800-118675800	Weak transcription	Right Atrium	heart
12	chr5:118670800-118677000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:118670800-118691000	Weak transcription	Aorta	Aorta
14	chr5:118671000-118676000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:118671200-118677000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:118671200-118678400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:118671200-118680200	Enhancers	Thymus	Thymus
18	chr5:118671200-118681600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:118671200-118695400	Weak transcription	A549	lung
20	chr5:118671400-118675800	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:118671400-118676000	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:118671800-118674200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:118671800-118675200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:118671800-118675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:118671800-118680000	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:118672200-118674200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:118672200-118675200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr5:118672200-118675800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:118672200-118676800	Enhancers	Small Intestine	intestine
30	chr5:118672400-118674200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:118672400-118674200	Enhancers	HSMMtube	muscle
32	chr5:118672400-118675800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:118672600-118674400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:118672600-118674400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr5:118672600-118674400	Enhancers	Fetal Intestine Small	intestine
36	chr5:118672600-118674400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:118672600-118674400	Enhancers	Stomach Mucosa	stomach
38	chr5:118672600-118674400	Enhancers	Stomach Smooth Muscle	stomach
39	chr5:118672800-118674200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:118672800-118674200	Enhancers	Fetal Intestine Large	intestine
41	chr5:118672800-118675400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:118673000-118674200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr5:118673000-118674200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
44	chr5:118673000-118674400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr5:118673000-118674400	Enhancers	Gastric	stomach
46	chr5:118673000-118674400	Enhancers	Left Ventricle	heart
47	chr5:118673000-118676000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:118673000-118677400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:118673200-118674200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr5:118673200-118674400	Enhancers	Fetal Stomach	stomach

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