Variant report

Variant	rs7707221
Chromosome Location	chr5:118671110-118671111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118602801..118604637-chr5:118670249..118672077,2	MCF-7	breast:
2	chr5:118322596..118324427-chr5:118669439..118671541,2	MCF-7	breast:
3	chr5:118658870..118659716-chr5:118670433..118671147,2	MCF-7	breast:
4	chr5:118670103..118672210-chr5:118744741..118746294,2	MCF-7	breast:
5	chr5:118666448..118669414-chr5:118669488..118671183,2	MCF-7	breast:
6	chr5:118667237..118669895-chr5:118670074..118672597,2	K562	blood:
7	chr5:118547322..118548106-chr5:118670433..118671294,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10052899	1.00[JPT][hapmap]
rs10052962	1.00[JPT][hapmap]
rs10053030	1.00[JPT][hapmap]
rs10060971	1.00[JPT][hapmap]
rs10478420	1.00[JPT][hapmap]
rs11950366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951771	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954854	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955852	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956215	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956285	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958957	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959451	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959729	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145189	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145194	1.00[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145196	1.00[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3813303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	0.84[EUR][1000 genomes]
rs4392658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161062	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60507834	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756572	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535134	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67154545	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311526	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67708265	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6861849	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862299	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862320	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]
rs6862517	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862831	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869017	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875361	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883394	1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786136	0.98[EUR][1000 genomes]
rs72786141	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786142	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786143	0.98[EUR][1000 genomes]
rs72786144	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786149	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786152	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786161	0.98[EUR][1000 genomes]
rs73235259	0.89[ASN][1000 genomes]
rs73235260	0.89[ASN][1000 genomes]
rs73790807	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703998	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704291	1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704326	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7704334	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704487	1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710939	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711101	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7711312	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712227	0.98[EUR][1000 genomes]
rs7719094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7721976	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7722687	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722699	1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723976	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724178	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724204	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725244	0.98[EUR][1000 genomes]
rs7725878	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[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:86 , 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	chr5:118664200-118671600	Weak transcription	Small Intestine	intestine
5	chr5:118664200-118673400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
7	chr5:118664800-118673000	Weak transcription	HSMM	muscle
8	chr5:118665000-118672600	Weak transcription	Hela-S3	cervix
9	chr5:118665400-118677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:118665800-118672600	Weak transcription	Fetal Intestine Small	intestine
11	chr5:118665800-118673200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:118666200-118672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:118666600-118672600	Weak transcription	Fetal Stomach	stomach
14	chr5:118667600-118671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:118667600-118671800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:118667600-118673000	Weak transcription	Gastric	stomach
17	chr5:118668000-118672200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr5:118668200-118671200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr5:118668400-118671800	Flanking Active TSS	NHEK	skin
20	chr5:118668400-118672200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr5:118668600-118671600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr5:118668600-118672000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118668800-118671200	Active TSS	Duodenum Mucosa	Duodenum
24	chr5:118669000-118671600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:118669200-118671200	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:118669200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:118669400-118671600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:118669400-118677600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:118669600-118672400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:118669600-118672600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:118669600-118673600	Genic enhancers	Fetal Thymus	thymus
32	chr5:118669800-118672800	Enhancers	Fetal Heart	heart
33	chr5:118670000-118672400	Enhancers	K562	blood
34	chr5:118670000-118672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:118670000-118675200	Enhancers	Dnd41	blood
36	chr5:118670200-118671400	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr5:118670200-118672200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:118670400-118671200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:118670400-118671200	Active TSS	Colonic Mucosa	Colon
40	chr5:118670400-118671200	Flanking Active TSS	Thymus	Thymus
41	chr5:118670400-118671400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:118670400-118672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:118670400-118672000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr5:118670400-118672200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:118670400-118672400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:118670400-118678200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:118670600-118671200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:118670600-118671200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:118670600-118671400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:118670600-118671400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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