Variant report

Variant	rs11993354
Chromosome Location	chr8:67518586-67518587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67509374..67511501-chr8:67518350..67520241,3	MCF-7	breast:
2	chr8:67506900..67508646-chr8:67517490..67519455,2	MCF-7	breast:
3	chr8:67516673..67518734-chr8:67523184..67525606,2	MCF-7	breast:
4	chr8:67507365..67510366-chr8:67517429..67519432,3	K562	blood:

Variant related genes	Relation type
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10283103	1.00[CHB][hapmap]
rs10504393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11987253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11990322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990636	1.00[CEU][hapmap]
rs11992252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	1.00[EUR][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11994827	1.00[EUR][1000 genomes]
rs11995031	1.00[EUR][1000 genomes]
rs11995253	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995256	1.00[CEU][hapmap]
rs11995291	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap]
rs11997554	1.00[EUR][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs12114868	0.96[EUR][1000 genomes]
rs16932983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs16933032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap]
rs16933057	1.00[CEU][hapmap]
rs2357998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2358000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301114	1.00[EUR][1000 genomes]
rs35078037	1.00[EUR][1000 genomes]
rs35353562	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3808602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs56682762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56810217	1.00[EUR][1000 genomes]
rs56911449	0.96[EUR][1000 genomes]
rs57125106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351080	1.00[EUR][1000 genomes]
rs57858031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59643912	1.00[EUR][1000 genomes]
rs60165103	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	1.00[EUR][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6986439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	1.00[EUR][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs6998718	1.00[EUR][1000 genomes]
rs6998777	1.00[CEU][hapmap]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73248113	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250244	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73251887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	1.00[EUR][1000 genomes]
rs73253968	1.00[EUR][1000 genomes]
rs73261704	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7844944	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957655	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67473400-67519600	Weak transcription	HMEC	breast
2	chr8:67474200-67521000	Weak transcription	NHEK	skin
3	chr8:67474200-67523000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:67474600-67520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:67474800-67523200	Weak transcription	NH-A	brain
6	chr8:67481800-67523000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:67488600-67523200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:67495000-67519600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:67496800-67519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:67499400-67520800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:67500800-67523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:67501200-67521200	Weak transcription	NHLF	lung
13	chr8:67502800-67519000	Weak transcription	GM12878-XiMat	blood
14	chr8:67506200-67522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:67507200-67519400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:67509200-67523600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:67509600-67522800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:67511200-67519200	Weak transcription	Dnd41	blood
19	chr8:67511400-67524600	Weak transcription	Right Atrium	heart
20	chr8:67512800-67520600	Weak transcription	A549	lung
21	chr8:67513000-67519600	Weak transcription	HSMM	muscle
22	chr8:67513000-67520600	Weak transcription	Osteobl	bone
23	chr8:67513200-67523600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:67514200-67519600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:67514800-67522000	Weak transcription	NHDF-Ad	bronchial
26	chr8:67515200-67522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:67515400-67522600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:67515600-67519800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:67515800-67521400	Weak transcription	HUVEC	blood vessel
30	chr8:67516000-67523000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:67516800-67522800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:67517400-67519600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:67517800-67519600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:67517800-67522200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:67518000-67521600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:67518000-67523000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:67518000-67524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:67518200-67521400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:67518400-67518800	Weak transcription	Primary T cells fromperipheralblood	blood

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