Variant report

Variant	rs11947757
Chromosome Location	chr4:85803117-85803118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:85802831..85804708-chr4:85806036..85808282,2	K562	blood:

Variant related genes	Relation type
ENSG00000252062	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10516726	0.92[EUR][1000 genomes]
rs10516728	0.92[EUR][1000 genomes]
rs10516729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10516733	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10516734	0.85[ASN][1000 genomes]
rs11726635	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11730031	0.85[ASN][1000 genomes]
rs11730137	0.85[ASN][1000 genomes]
rs11737191	0.88[ASN][1000 genomes]
rs11931033	1.00[JPT][hapmap]
rs11936391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11936719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11940030	0.85[ASN][1000 genomes]
rs11945313	0.84[ASW][hapmap];0.82[YRI][hapmap]
rs1463607	0.85[ASN][1000 genomes]
rs1473456	0.85[ASN][1000 genomes]
rs1484662	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs1601286	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[ASN][1000 genomes]
rs16995917	0.85[ASN][1000 genomes]
rs17009212	0.85[ASN][1000 genomes]
rs17009218	0.85[ASN][1000 genomes]
rs17009245	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17009286	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[ASN][1000 genomes]
rs1994227	0.85[ASN][1000 genomes]
rs2015631	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs3747681	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs4544703	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7681742	0.85[ASN][1000 genomes]
rs7692204	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894533	1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv879515	chr4:85789940-85843244	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85723000-85821000	Weak transcription	Pancreas	Pancrea
2	chr4:85771200-85803200	Weak transcription	Brain Germinal Matrix	brain
3	chr4:85778000-85813800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:85778000-85836600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:85778800-85832800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:85779800-85828800	Weak transcription	Spleen	Spleen
7	chr4:85781800-85808200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:85781800-85848600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:85782200-85810800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:85782200-85814800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:85783400-85814200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:85783600-85826600	Weak transcription	Ovary	ovary
13	chr4:85791800-85808200	Weak transcription	Aorta	Aorta
14	chr4:85792000-85824400	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:85792000-85825000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:85792000-85828600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:85792400-85808400	Weak transcription	Fetal Heart	heart
18	chr4:85793200-85815600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:85793600-85815400	Weak transcription	Fetal Stomach	stomach
20	chr4:85795000-85814200	Weak transcription	Fetal Kidney	kidney
21	chr4:85797600-85804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:85798400-85833400	Weak transcription	Fetal Brain Female	brain
23	chr4:85798800-85803200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:85798800-85815800	Weak transcription	Left Ventricle	heart
25	chr4:85798800-85823400	Weak transcription	Gastric	stomach
26	chr4:85798800-85824600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:85798800-85873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:85799600-85841600	Weak transcription	HMEC	breast
29	chr4:85800000-85822200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:85800000-85824400	Weak transcription	NHEK	skin
31	chr4:85800200-85807800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:85800600-85808200	Weak transcription	NHLF	lung
33	chr4:85800800-85808000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:85800800-85808200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:85801200-85807600	Weak transcription	Brain Substantia Nigra	brain
36	chr4:85801200-85816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:85801400-85803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:85801400-85808200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:85801400-85808400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:85801400-85808400	Weak transcription	Brain Anterior Caudate	brain
41	chr4:85801400-85808600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:85801400-85809800	Weak transcription	Brain Angular Gyrus	brain
43	chr4:85801400-85813600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:85801400-85814200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:85801400-85822000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:85801400-85825000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:85801400-85843800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:85801600-85803200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:85801600-85808200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:85801600-85808200	Weak transcription	Brain Hippocampus Middle	brain

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