Variant report

Variant	rs10031818
Chromosome Location	chr4:8444247-8444248
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	chr4:8442733..8444744-chr4:8447806..8449869,2	MCF-7	breast:
2	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

Variant related genes	Relation type
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10008186	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10009833	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10012186	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10015429	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10029016	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938715	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11736150	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737745	0.91[ASN][1000 genomes]
rs11934642	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13105919	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16842416	0.83[EUR][1000 genomes]
rs28536709	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28544429	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28739492	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2972	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3796741	0.93[ASN][1000 genomes]
rs71603931	0.96[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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8441600-8445000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr4:8441800-8444600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8441800-8444600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:8442800-8444400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr4:8442800-8444400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr4:8442800-8444600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr4:8442800-8444800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr4:8443000-8444400	Flanking Active TSS	Fetal Brain Female	brain
9	chr4:8443000-8444400	Flanking Active TSS	Osteobl	bone
10	chr4:8443000-8445000	Flanking Active TSS	Dnd41	blood
11	chr4:8443200-8444400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:8443200-8444400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:8443200-8444400	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr4:8443200-8444400	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr4:8443200-8444400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr4:8443200-8444600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr4:8443200-8444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:8443200-8444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:8443200-8445000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:8443200-8445000	Enhancers	Spleen	Spleen
21	chr4:8443200-8445200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr4:8443400-8444400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr4:8443400-8444400	Flanking Active TSS	GM12878-XiMat	blood
24	chr4:8443400-8444400	Flanking Active TSS	NHDF-Ad	bronchial
25	chr4:8443400-8444400	Flanking Active TSS	NHEK	skin
26	chr4:8443400-8444600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr4:8443400-8444600	Flanking Active TSS	HMEC	breast
28	chr4:8443400-8444800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr4:8443400-8444800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:8443400-8444800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:8443400-8444800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:8443400-8444800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:8443400-8444800	Enhancers	Aorta	Aorta
34	chr4:8443400-8445000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:8443400-8445000	Flanking Active TSS	Hela-S3	cervix
36	chr4:8443400-8445200	Enhancers	Primary B cells from peripheral blood	blood
37	chr4:8443600-8444400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:8443600-8444400	Flanking Active TSS	HepG2	liver
39	chr4:8443600-8444600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:8443600-8444800	Enhancers	Fetal Brain Male	brain
41	chr4:8443600-8445000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:8443600-8445000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:8443600-8445000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:8443600-8445200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:8443600-8445200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:8443600-8445200	Enhancers	Small Intestine	intestine
47	chr4:8443600-8445200	Enhancers	Thymus	Thymus
48	chr4:8443600-8445400	Enhancers	Placenta	Placenta
49	chr4:8443600-8445800	Enhancers	Fetal Heart	heart
50	chr4:8443600-8447800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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