Variant report

Variant	rs9380476
Chromosome Location	chr6:34919659-34919660
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34855279..34857793-chr6:34917331..34920271,2	MCF-7	breast:
2	chr6:34853391..34855742-chr6:34918404..34920858,2	K562	blood:
3	chr6:34918877..34921128-chr6:34926840..34928643,2	K562	blood:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10807143	0.80[ASN][1000 genomes]
rs10947533	0.84[ASN][1000 genomes]
rs10947534	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10947535	0.93[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs11755713	0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13204222	0.84[ASN][1000 genomes]
rs13215944	0.85[ASN][1000 genomes]
rs13220916	0.83[ASN][1000 genomes]
rs16895035	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs16895354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1737724	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1883639	0.86[ASN][1000 genomes]
rs2030611	0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2395601	0.93[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs34006431	0.86[ASN][1000 genomes]
rs35057781	0.86[ASN][1000 genomes]
rs35499928	0.86[ASN][1000 genomes]
rs35760768	0.86[ASN][1000 genomes]
rs35786848	0.86[ASN][1000 genomes]
rs3734258	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs3734259	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3756859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3777750	0.80[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[AFR][1000 genomes]
rs3800443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs3800448	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3800450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3800452	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3800453	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3822923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4646919	0.84[ASN][1000 genomes]
rs4646920	0.85[ASN][1000 genomes]
rs4646922	0.84[ASN][1000 genomes]
rs4646941	0.83[ASN][1000 genomes]
rs56140217	0.96[ASN][1000 genomes]
rs56248791	0.81[ASN][1000 genomes]
rs57955553	0.86[ASN][1000 genomes]
rs58595551	0.82[ASN][1000 genomes]
rs61407926	0.87[EUR][1000 genomes]
rs6457799	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6907427	0.86[ASN][1000 genomes]
rs6912229	0.90[ASN][1000 genomes]
rs6913108	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6918498	1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6927009	0.86[ASN][1000 genomes]
rs6936820	0.81[ASN][1000 genomes]
rs6941065	0.93[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs73745049	0.86[ASN][1000 genomes]
rs73745050	0.86[ASN][1000 genomes]
rs7740148	0.93[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7751820	0.93[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap]
rs7752468	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7755801	0.86[ASN][1000 genomes]
rs7756122	0.86[ASN][1000 genomes]
rs847842	0.90[ASN][1000 genomes]
rs847844	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs847845	0.93[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs847861	0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs847862	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs861878	0.88[ASN][1000 genomes]
rs9357187	0.85[ASN][1000 genomes]
rs9368835	0.85[ASN][1000 genomes]
rs9368837	0.85[ASN][1000 genomes]
rs9380465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9380466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9380467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs9380468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs9380470	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9394254	0.86[ASN][1000 genomes]
rs9394255	0.85[ASN][1000 genomes]
rs9784889	0.93[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
2	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:34896000-34934600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:34902600-34922400	Weak transcription	Brain Germinal Matrix	brain
8	chr6:34903200-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:34903200-34927800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:34903400-34923200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:34904600-34937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:34906200-34921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:34907400-34922000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:34907400-34937600	Weak transcription	Dnd41	blood
15	chr6:34907600-34923200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:34907800-34921000	Weak transcription	Left Ventricle	heart
17	chr6:34907800-34922000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:34907800-34922400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:34908400-34921200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:34911000-34921000	Weak transcription	Right Atrium	heart
21	chr6:34911000-34921200	Weak transcription	Right Ventricle	heart
22	chr6:34912400-34928000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:34915800-34926600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:34916800-34927800	Weak transcription	Lung	lung
25	chr6:34917200-34926800	Weak transcription	Spleen	Spleen
26	chr6:34917400-34921400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:34917800-34921000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:34917800-34921000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:34918000-34921000	Weak transcription	Ovary	ovary
30	chr6:34918200-34923200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:34918400-34920000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:34918400-34921400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:34918600-34920200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:34918600-34938400	Weak transcription	Thymus	Thymus
35	chr6:34918800-34920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:34918800-34921000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:34918800-34921000	Weak transcription	Placenta	Placenta
38	chr6:34918800-34921000	Enhancers	A549	lung
39	chr6:34918800-34921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:34918800-34924400	Weak transcription	Psoas Muscle	Psoas
41	chr6:34919000-34929600	Weak transcription	Fetal Kidney	kidney
42	chr6:34919200-34919800	Enhancers	NHEK	skin
43	chr6:34919200-34920200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:34919200-34920200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:34919200-34921800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:34919200-34922400	Enhancers	Fetal Intestine Small	intestine
47	chr6:34919200-34922600	Enhancers	HepG2	liver
48	chr6:34919400-34920000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr6:34919400-34920000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:34919600-34919800	Enhancers	H1 Cell Line	embryonic stem cell

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