Variant report

Variant	rs9380473
Chromosome Location	chr6:11712586-11712587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11710777..11713015-chr6:11730009..11731518,2	K562	blood:
2	chr6:11710372..11713269-chr6:11723329..11725416,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12175671	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12175871	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12529085	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2076185	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2076186	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2076187	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210895	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2235391	0.92[LWK][hapmap]
rs2235395	0.85[YRI][hapmap]
rs2235406	0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs2235410	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2235412	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2235415	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2235416	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2235426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281127	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294418	0.86[JPT][hapmap];0.83[LWK][hapmap];0.85[YRI][hapmap]
rs2294420	0.83[ASN][1000 genomes]
rs2294426	1.00[YRI][hapmap]
rs3765254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61439239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6936922	1.00[CEU][hapmap];0.91[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];0.92[ASN][1000 genomes]
rs849013	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9348960	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380512	0.92[LWK][hapmap]
rs9394271	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462637	chr6:11710554-11733777	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600990	chr6:11710554-11733777	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11701800-11713000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:11703600-11712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:11704200-11714800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:11708200-11714800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:11708400-11716800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:11709000-11714800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:11709000-11715800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:11709000-11716400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:11709800-11716400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:11710000-11715200	Enhancers	Fetal Thymus	thymus
11	chr6:11710400-11712800	Enhancers	NHEK	skin
12	chr6:11710400-11713200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:11710400-11713400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:11710400-11713400	Enhancers	Spleen	Spleen
15	chr6:11710400-11713600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:11710600-11712800	Enhancers	Fetal Lung	lung
17	chr6:11710600-11713200	Enhancers	HMEC	breast
18	chr6:11710800-11712600	Enhancers	Esophagus	oesophagus
19	chr6:11710800-11712800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:11710800-11713600	Enhancers	NHLF	lung
21	chr6:11710800-11731000	Weak transcription	Gastric	stomach
22	chr6:11711000-11712800	Enhancers	Right Atrium	heart
23	chr6:11711200-11713000	Enhancers	NHDF-Ad	bronchial
24	chr6:11711200-11715400	Flanking Active TSS	GM12878-XiMat	blood
25	chr6:11711200-11731000	Weak transcription	Fetal Intestine Small	intestine
26	chr6:11711400-11712600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:11711400-11712800	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:11711400-11713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:11711400-11713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:11711400-11713400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:11711400-11713400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:11711400-11713800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:11711400-11715400	Enhancers	Primary B cells from cord blood	blood
34	chr6:11711400-11718400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:11711400-11719200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:11711600-11713800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:11711600-11715200	Enhancers	Primary B cells from peripheral blood	blood
38	chr6:11711600-11731800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:11711800-11712600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr6:11711800-11712800	Weak transcription	Fetal Heart	heart
41	chr6:11711800-11713000	Weak transcription	Lung	lung
42	chr6:11711800-11713000	Enhancers	Osteobl	bone
43	chr6:11711800-11713400	Enhancers	Fetal Muscle Leg	muscle
44	chr6:11711800-11713400	Enhancers	Psoas Muscle	Psoas
45	chr6:11711800-11714200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:11711800-11715000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:11711800-11715800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:11712000-11712600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:11712000-11712600	Enhancers	Stomach Smooth Muscle	stomach
50	chr6:11712000-11713200	Enhancers	Adipose Nuclei	Adipose

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