Variant report

Variant	rs10031749
Chromosome Location	chr4:166144703-166144704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10005213	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10009579	0.80[ASN][1000 genomes]
rs10010264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10019675	1.00[CEU][hapmap]
rs10022944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10213218	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12108624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12171342	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12330937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12331117	0.80[ASN][1000 genomes]
rs28397216	0.80[ASN][1000 genomes]
rs28495546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs28520278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28525405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs28621585	0.80[ASN][1000 genomes]
rs28641126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs28669375	0.86[EUR][1000 genomes]
rs28685193	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28853353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6834112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7665057	0.86[EUR][1000 genomes]
rs9761388	0.80[ASN][1000 genomes]
rs9991944	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs9996084	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9999376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv980271	chr4:166140782-166154486	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
3	chr4:166130200-166150800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:166130600-166146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:166130600-166200800	Weak transcription	Lung	lung
7	chr4:166131400-166148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:166131600-166165800	Weak transcription	Gastric	stomach
10	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:166132000-166156400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
13	chr4:166134000-166146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:166135800-166152600	Weak transcription	Brain Germinal Matrix	brain
15	chr4:166135800-166159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:166137600-166162800	Weak transcription	NH-A	brain
18	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:166138000-166157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:166138000-166161600	Weak transcription	HSMMtube	muscle
21	chr4:166138200-166168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:166142400-166144800	Enhancers	Liver	Liver
24	chr4:166142400-166144800	Enhancers	Brain Substantia Nigra	brain
25	chr4:166142400-166144800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:166142400-166145200	Enhancers	HMEC	breast
27	chr4:166142600-166144800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:166142600-166144800	Enhancers	Brain Angular Gyrus	brain
29	chr4:166142600-166144800	Enhancers	Hela-S3	cervix
30	chr4:166142800-166165800	Weak transcription	Esophagus	oesophagus
31	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:166143200-166144800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr4:166143200-166144800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:166143400-166144800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:166143400-166150800	Weak transcription	Left Ventricle	heart
36	chr4:166143600-166144800	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:166143600-166144800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:166143600-166156600	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:166143800-166144800	Enhancers	NHEK	skin
40	chr4:166143800-166145400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:166143800-166159400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:166144000-166145200	Enhancers	HUVEC	blood vessel
43	chr4:166144000-166145600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:166144000-166150400	Weak transcription	A549	lung
45	chr4:166144000-166150800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:166144000-166152200	Weak transcription	NHLF	lung
47	chr4:166144000-166153600	Weak transcription	GM12878-XiMat	blood
48	chr4:166144000-166153800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:166144000-166156600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:166144000-166159400	Weak transcription	Brain Cingulate Gyrus	brain

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