Variant report

Variant	rs2274091
Chromosome Location	chr6:37793741-37793742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37775388..37777392-chr6:37792232..37794017,2	MCF-7	breast:
2	chr6:37784606..37792959-chr6:37792982..37799004,11	MCF-7	breast:
3	chr6:37792689..37794670-chr6:37813133..37814800,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156639	Chromatin interaction
ENSG00000225945	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10428769	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10485030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10498739	0.85[CHB][hapmap]
rs10498740	0.85[CHB][hapmap]
rs10947702	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750950	0.90[CHB][hapmap]
rs11751781	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11751927	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11751962	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11752809	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11752814	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11753054	0.90[CHB][hapmap]
rs11753300	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11755095	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11755629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11756713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11757161	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759458	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11759496	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11759826	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11967129	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969988	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12660498	0.84[CHB][hapmap]
rs12660773	0.82[CHB][hapmap]
rs12660919	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12661378	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661480	0.89[CHB][hapmap]
rs12661702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662305	0.84[CHB][hapmap]
rs12662426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12664768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13190751	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13195545	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13205214	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13205311	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206035	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16890177	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs16890181	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs16890185	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16890215	0.85[CHB][hapmap]
rs16890247	0.85[CHB][hapmap]
rs16890267	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16890298	0.85[CHB][hapmap]
rs16890299	0.85[CHB][hapmap]
rs16890301	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16890305	0.85[CHB][hapmap]
rs16890307	0.81[CHB][hapmap]
rs16890309	0.84[CHB][hapmap]
rs2025431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064795	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2103950	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2273441	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2274090	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2395689	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2645111	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2645125	0.85[AMR][1000 genomes]
rs2645130	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842511	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[ASN][1000 genomes]
rs2842512	0.83[ASN][1000 genomes]
rs2842521	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs34254045	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34450348	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35051126	0.81[ASN][1000 genomes]
rs35122358	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35216205	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35772972	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35849984	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3792706	0.81[CHB][hapmap]
rs3844314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3852216	0.85[CHB][hapmap]
rs55679841	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55996712	0.81[AMR][1000 genomes]
rs56023538	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56129320	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56177150	0.81[AMR][1000 genomes]
rs57198506	0.82[ASN][1000 genomes]
rs57402213	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58333612	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58611435	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58692659	0.80[ASN][1000 genomes]
rs59649654	0.82[ASN][1000 genomes]
rs60141491	0.82[ASN][1000 genomes]
rs60284537	0.82[ASN][1000 genomes]
rs61332486	0.80[ASN][1000 genomes]
rs61411293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61466900	0.82[ASN][1000 genomes]
rs6458032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6903743	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6906289	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6908106	1.00[CEU][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6910715	1.00[CEU][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6911716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6936260	0.95[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs73419440	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs752110	0.90[CHB][hapmap]
rs7742226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745796	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7746266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7747996	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7748312	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7756261	0.80[CHB][hapmap]
rs7759145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759792	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7761561	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762052	0.95[CEU][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs7764130	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];0.99[ASN][1000 genomes]
rs7773419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37789000-37794400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37789000-37796400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:37789400-37800000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:37790800-37793800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:37790800-37794800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:37790800-37799200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:37791000-37795400	Weak transcription	Hela-S3	cervix
8	chr6:37791000-37798000	Weak transcription	HSMM	muscle
9	chr6:37791000-37799200	Weak transcription	Esophagus	oesophagus
10	chr6:37791000-37800400	Weak transcription	Thymus	Thymus
11	chr6:37791200-37795000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:37791200-37795400	Weak transcription	Fetal Kidney	kidney
13	chr6:37791200-37795400	Weak transcription	HSMMtube	muscle
14	chr6:37791200-37798000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:37791200-37800000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:37791200-37820000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:37791400-37793800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:37791400-37793800	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:37791400-37793800	Weak transcription	Brain Substantia Nigra	brain
20	chr6:37791400-37793800	Weak transcription	Placenta	Placenta
21	chr6:37791400-37793800	Weak transcription	Fetal Thymus	thymus
22	chr6:37791400-37793800	Weak transcription	Gastric	stomach
23	chr6:37791400-37793800	Weak transcription	Psoas Muscle	Psoas
24	chr6:37791400-37793800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:37791400-37793800	Weak transcription	Small Intestine	intestine
26	chr6:37791400-37793800	Weak transcription	GM12878-XiMat	blood
27	chr6:37791400-37794000	Weak transcription	Ovary	ovary
28	chr6:37791400-37794000	Weak transcription	Right Ventricle	heart
29	chr6:37791400-37794000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:37791400-37794000	Weak transcription	Dnd41	blood
31	chr6:37791400-37794200	Weak transcription	Colonic Mucosa	Colon
32	chr6:37791400-37794800	Weak transcription	Primary B cells from cord blood	blood
33	chr6:37791400-37794800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:37791400-37794800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:37791400-37794800	Weak transcription	NHLF	lung
36	chr6:37791400-37795200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:37791400-37795400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:37791400-37795400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:37791400-37795400	Weak transcription	Brain Anterior Caudate	brain
40	chr6:37791400-37795400	Weak transcription	Spleen	Spleen
41	chr6:37791400-37795600	Weak transcription	Fetal Stomach	stomach
42	chr6:37791400-37796000	Enhancers	Liver	Liver
43	chr6:37791400-37796400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:37791400-37799200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:37791400-37799200	Weak transcription	Pancreas	Pancrea
46	chr6:37791400-37799400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:37791400-37799400	Weak transcription	Aorta	Aorta
48	chr6:37791400-37800400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:37791400-37800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:37791400-37801800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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