Variant report

Variant	rs1934327
Chromosome Location	chr6:45444967-45444968
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45443340..45445813-chr6:45469468..45471055,2	MCF-7	breast:
2	chr6:45442196..45444441-chr6:45444662..45447031,2	MCF-7	breast:
3	chr6:45443101..45446352-chr6:45446405..45450040,4	K562	blood:
4	chr6:45435832..45438979-chr6:45442229..45445718,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10214519	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10485422	1.00[JPT][hapmap]
rs10948237	1.00[JPT][hapmap]
rs10948238	1.00[JPT][hapmap]
rs11756145	1.00[JPT][hapmap]
rs1200428	1.00[JPT][hapmap]
rs12195878	1.00[JPT][hapmap]
rs12197948	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12209785	1.00[JPT][hapmap]
rs12210100	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12215249	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1316330	1.00[JPT][hapmap]
rs1317777	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13201287	1.00[JPT][hapmap]
rs13207392	1.00[JPT][hapmap]
rs1343799	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1928533	1.00[JPT][hapmap]
rs1934329	1.00[JPT][hapmap]
rs2031966	1.00[JPT][hapmap]
rs2252718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2256819	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2396442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2677098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2677099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2677100	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2677109	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs2677110	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2790093	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2790094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2790099	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2790100	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2790102	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2790103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819852	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2819853	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2819861	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2819864	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2819865	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2819866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819867	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2820339	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2820340	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4438954	1.00[JPT][hapmap]
rs4711816	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4714854	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6458443	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6458445	1.00[JPT][hapmap]
rs6458446	1.00[JPT][hapmap]
rs6458447	1.00[JPT][hapmap]
rs6904353	1.00[JPT][hapmap]
rs6905181	1.00[JPT][hapmap]
rs6905847	1.00[JPT][hapmap]
rs6911664	1.00[JPT][hapmap]
rs6915569	1.00[JPT][hapmap]
rs765724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7748231	1.00[JPT][hapmap]
rs7755257	1.00[JPT][hapmap]
rs7756144	0.96[EUR][1000 genomes]
rs7772562	1.00[JPT][hapmap]
rs910586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9472494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9885645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:45419200-45456200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:45422000-45445000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:45423000-45454400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:45429400-45445400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:45429800-45445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:45429800-45445400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:45430200-45445400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:45430200-45445800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:45432200-45447800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:45436600-45447800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:45439000-45445200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:45440400-45447800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:45440600-45445600	Weak transcription	NHLF	lung
15	chr6:45440600-45448200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:45440800-45445600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:45440800-45445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:45440800-45445600	Weak transcription	NHDF-Ad	bronchial
19	chr6:45440800-45447800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:45441400-45445000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:45441400-45445200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:45441400-45447800	Weak transcription	Fetal Kidney	kidney
23	chr6:45441400-45448200	Weak transcription	Small Intestine	intestine
24	chr6:45441600-45445000	Weak transcription	HSMMtube	muscle
25	chr6:45442000-45445000	Weak transcription	NH-A	brain
26	chr6:45442000-45445400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:45442200-45445400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:45442600-45445000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:45442600-45448200	Weak transcription	Fetal Lung	lung
30	chr6:45442800-45445200	Enhancers	Brain Anterior Caudate	brain
31	chr6:45443000-45446200	Weak transcription	Stomach Mucosa	stomach
32	chr6:45443400-45446400	Enhancers	Brain Angular Gyrus	brain
33	chr6:45443400-45446400	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:45443400-45446400	Enhancers	Brain Substantia Nigra	brain
35	chr6:45443600-45447000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:45443800-45445600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:45443800-45445600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:45443800-45445800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:45443800-45446400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:45444000-45448200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:45444200-45445000	Weak transcription	Fetal Thymus	thymus
42	chr6:45444200-45446200	Enhancers	Osteobl	bone
43	chr6:45444200-45447600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:45444200-45448200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr6:45444600-45445000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr6:45444600-45445600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:45444600-45445600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:45444600-45446400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr6:45444600-45446400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr6:45444600-45446600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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