Variant report

Variant	rs946321
Chromosome Location	chr1:47045355-47045356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47036966..47039803-chr1:47043494..47046451,2	K562	blood:

Variant related genes	Relation type
ENSG00000079277	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10890406	1.00[CHB][hapmap]
rs11211324	1.00[CHB][hapmap]
rs11211325	1.00[CHB][hapmap]
rs12060644	1.00[EUR][1000 genomes]
rs1258010	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258012	1.00[CHB][hapmap]
rs1258022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258050	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1258051	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1767598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1767612	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274422	1.00[EUR][1000 genomes]
rs2476166	0.96[ASN][1000 genomes]
rs3737742	1.00[EUR][1000 genomes]
rs4660357	1.00[CHB][hapmap]
rs57340268	1.00[EUR][1000 genomes]
rs57954022	1.00[EUR][1000 genomes]
rs58591480	1.00[EUR][1000 genomes]
rs60081306	1.00[EUR][1000 genomes]
rs7549865	1.00[EUR][1000 genomes]
rs942083	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
2	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
3	chr1:47021800-47054600	Weak transcription	A549	lung
4	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
5	chr1:47022600-47051400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:47022600-47051600	Strong transcription	Liver	Liver
7	chr1:47023000-47047400	Strong transcription	Primary T cells from cord blood	blood
8	chr1:47023200-47046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:47023200-47047200	Strong transcription	Fetal Thymus	thymus
10	chr1:47023200-47051200	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:47023800-47053200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:47024000-47054800	Weak transcription	HUVEC	blood vessel
14	chr1:47025600-47062400	Weak transcription	Fetal Heart	heart
15	chr1:47027200-47047600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:47030800-47046000	Weak transcription	Psoas Muscle	Psoas
17	chr1:47031200-47045600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:47032600-47046200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr1:47035200-47047600	Weak transcription	NHDF-Ad	bronchial
20	chr1:47035200-47048000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:47035200-47053000	Strong transcription	Spleen	Spleen
22	chr1:47035600-47053400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:47036000-47047400	Weak transcription	Fetal Lung	lung
24	chr1:47036000-47056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:47036000-47060000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:47036400-47053200	Strong transcription	Fetal Stomach	stomach
27	chr1:47036600-47045600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:47037000-47046400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:47037800-47047400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:47037800-47057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:47038400-47053200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:47038600-47050800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:47039000-47052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:47039000-47054800	Weak transcription	Hela-S3	cervix
35	chr1:47039200-47046400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:47039200-47048200	Weak transcription	Brain Substantia Nigra	brain
37	chr1:47039200-47053000	Weak transcription	Right Atrium	heart
38	chr1:47039200-47060400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:47039400-47050200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:47039600-47052400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:47039600-47060000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:47040000-47045400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:47040000-47046000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:47040000-47046000	Strong transcription	Lung	lung
45	chr1:47040000-47046200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:47040000-47053000	Strong transcription	Left Ventricle	heart
47	chr1:47040000-47053200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:47040200-47060400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:47040400-47046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:47040800-47053000	Strong transcription	NHEK	skin

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