Variant report

Variant	rs12205389
Chromosome Location	chr6:11136257-11136258
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11133811..11136642-chr6:11138641..11140647,3	MCF-7	breast:
2	chr6:11130403..11132695-chr6:11134781..11136528,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10484446	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10484448	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10946967	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946968	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947002	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11751998	0.87[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11759939	0.80[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12190970	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193702	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12194681	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12199551	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12200717	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200932	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211539	0.81[CEU][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12212683	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12213689	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12215910	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711180	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6456846	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906952	1.00[JPT][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr6:11112400-11137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:11116600-11144000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:11120600-11136800	Weak transcription	Brain Germinal Matrix	brain
4	chr6:11121200-11136800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:11127400-11139800	Weak transcription	Pancreas	Pancrea
6	chr6:11127400-11146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:11127600-11136400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:11127600-11140400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:11127600-11143800	Weak transcription	Stomach Mucosa	stomach
10	chr6:11127600-11145600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:11129000-11141200	Weak transcription	Spleen	Spleen
12	chr6:11129000-11144200	Weak transcription	Psoas Muscle	Psoas
13	chr6:11129000-11144800	Weak transcription	Fetal Stomach	stomach
14	chr6:11129000-11154200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:11129200-11138600	Weak transcription	Right Ventricle	heart
16	chr6:11130800-11139400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:11131000-11136400	Weak transcription	Small Intestine	intestine
18	chr6:11132800-11136800	Weak transcription	Fetal Brain Female	brain
19	chr6:11134000-11138200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:11134600-11136400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:11134600-11136400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:11134600-11136400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr6:11134600-11136400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:11134600-11136400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:11134600-11136400	Strong transcription	Brain Angular Gyrus	brain
26	chr6:11134600-11136400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:11134600-11136600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:11134600-11136600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:11134600-11136600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:11134600-11136600	Strong transcription	Fetal Intestine Large	intestine
31	chr6:11134600-11136600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:11134600-11136600	Strong transcription	Dnd41	blood
33	chr6:11134600-11136800	Strong transcription	A549	lung
34	chr6:11134600-11137000	Strong transcription	Fetal Thymus	thymus
35	chr6:11134800-11136400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:11134800-11136400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:11134800-11136400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr6:11134800-11136400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:11134800-11136400	Strong transcription	HMEC	breast
40	chr6:11134800-11136400	Strong transcription	NHEK	skin
41	chr6:11134800-11136600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:11134800-11136600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:11134800-11136600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:11134800-11137000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:11134800-11138200	Strong transcription	HSMM	muscle
46	chr6:11135000-11136400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr6:11135000-11136400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:11135000-11136600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:11135000-11136600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:11135000-11136600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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