Variant report

Variant	rs11931912
Chromosome Location	chr4:48134118-48134119
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	chr4:48125513..48127919-chr4:48132756..48135155,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10938521	0.83[CHD][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap]
rs12646088	0.82[CHD][hapmap]
rs12647931	1.00[YRI][hapmap]
rs13151608	1.00[YRI][hapmap]
rs17655249	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs17655303	1.00[YRI][hapmap]
rs1961973	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805180	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4235153	0.80[JPT][hapmap]
rs4446283	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45598338	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62309328	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62309331	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62309332	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
3	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
4	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
5	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
8	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
15	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
16	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
18	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:48130600-48137000	Weak transcription	Liver	Liver
21	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
26	chr4:48131800-48135600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:48131800-48137400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:48131800-48142000	Weak transcription	NHLF	lung
30	chr4:48132000-48134600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr4:48132000-48136000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:48132000-48136000	Weak transcription	Fetal Lung	lung
33	chr4:48132000-48137600	Weak transcription	Spleen	Spleen
34	chr4:48132000-48141400	Weak transcription	HUVEC	blood vessel
35	chr4:48132000-48141600	Weak transcription	NHDF-Ad	bronchial
36	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:48132200-48134800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr4:48132200-48136200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:48132200-48137400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:48132200-48137800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:48132200-48137800	Weak transcription	Fetal Intestine Small	intestine
43	chr4:48132200-48137800	Weak transcription	Lung	lung
44	chr4:48132200-48138800	Weak transcription	Stomach Mucosa	stomach
45	chr4:48132200-48139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:48132200-48141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:48132400-48137800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:48132400-48142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:48132600-48137600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:48132600-48138000	Weak transcription	Pancreas	Pancrea

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