Variant report

Variant	rs11730137
Chromosome Location	chr4:85690912-85690913
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	chr4:85689606..85693724-chr4:85695499..85698640,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10516726	0.88[ASN][1000 genomes]
rs10516728	0.88[ASN][1000 genomes]
rs10516729	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11724870	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726635	1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728145	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[EUR][1000 genomes]
rs11936391	0.91[ASN][1000 genomes]
rs11936719	0.97[ASN][1000 genomes]
rs11940030	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947757	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1463607	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473456	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484662	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16995917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009212	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009218	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009245	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17009286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747681	1.00[JPT][hapmap]
rs7681742	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692204	0.88[ASN][1000 genomes]
rs894533	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85619200-85726000	Weak transcription	Hela-S3	cervix
2	chr4:85636400-85701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:85657000-85704200	Weak transcription	Psoas Muscle	Psoas
4	chr4:85664000-85703400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:85664000-85703600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:85664200-85703600	Weak transcription	Right Ventricle	heart
7	chr4:85668600-85703800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:85669600-85703600	Weak transcription	Aorta	Aorta
9	chr4:85670600-85700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:85672200-85702400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:85672400-85700600	Weak transcription	Spleen	Spleen
12	chr4:85672400-85707000	Weak transcription	Colonic Mucosa	Colon
13	chr4:85672800-85700600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:85672800-85703600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:85672800-85703600	Weak transcription	Esophagus	oesophagus
16	chr4:85672800-85703600	Weak transcription	NHLF	lung
17	chr4:85673000-85695600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:85673000-85700600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:85673200-85692400	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:85673200-85703600	Weak transcription	HepG2	liver
21	chr4:85673600-85700800	Weak transcription	Lung	lung
22	chr4:85673800-85700600	Weak transcription	Pancreas	Pancrea
23	chr4:85674600-85702200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:85675000-85695400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:85675000-85700600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:85675200-85702800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:85675200-85703600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:85675400-85692200	Weak transcription	Ovary	ovary
29	chr4:85675600-85703600	Weak transcription	Fetal Brain Male	brain
30	chr4:85675800-85700400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:85676200-85700800	Weak transcription	HMEC	breast
32	chr4:85676400-85692200	Weak transcription	Brain Germinal Matrix	brain
33	chr4:85676400-85695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:85676400-85698200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:85676600-85691400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:85676600-85692200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:85676600-85694600	Weak transcription	NHDF-Ad	bronchial
38	chr4:85676600-85695200	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:85676600-85695200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:85676600-85700600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:85676800-85691600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:85677200-85707200	Weak transcription	NHEK	skin
43	chr4:85678400-85691400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:85678400-85691600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:85678400-85692200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:85678400-85694200	Weak transcription	Brain Anterior Caudate	brain
47	chr4:85678400-85695200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:85678400-85695200	Weak transcription	Brain Angular Gyrus	brain
49	chr4:85678400-85695200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:85678400-85695200	Weak transcription	Brain Substantia Nigra	brain

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