Variant report

Variant	rs11119733
Chromosome Location	chr1:211566185-211566186
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211565208..211568165-chr1:211585336..211586905,2	K562	blood:
2	chr1:211565165..211567494-chr1:211569278..211571043,2	K562	blood:
3	chr1:211565192..211566756-chr1:211567269..211570151,2	K562	blood:
4	chr1:211554768..211559509-chr1:211560606..211570007,12	MCF-7	breast:
5	chr1:211546344..211548686-chr1:211564910..211567315,2	K562	blood:

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10458470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10494935	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs10863885	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs11119717	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs11119720	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs11119725	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs11119727	0.82[ASN][1000 genomes]
rs11119731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119734	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11577764	0.82[ASN][1000 genomes]
rs12027277	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12028306	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12030854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032988	0.92[EUR][1000 genomes]
rs12033418	0.96[AMR][1000 genomes]
rs12035966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039683	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12039915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065190	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12080561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12085730	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12097572	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17017360	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs17017401	1.00[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs2175633	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2289758	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920907	0.81[ASN][1000 genomes]
rs3738201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4443952	0.82[ASN][1000 genomes]
rs4951521	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs4951743	0.82[ASN][1000 genomes]
rs57093875	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58164259	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58510761	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60169087	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61624054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663729	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs6684356	0.81[ASN][1000 genomes]
rs6698113	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs6698191	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs7540368	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211556800-211585800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:211556800-211589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211557000-211568000	Weak transcription	Psoas Muscle	Psoas
4	chr1:211557000-211568400	Weak transcription	Placenta	Placenta
5	chr1:211557000-211569800	Weak transcription	Ovary	ovary
6	chr1:211557000-211571400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:211557000-211572400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:211557000-211573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:211557000-211575000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:211557000-211576600	Weak transcription	Left Ventricle	heart
11	chr1:211557000-211580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:211557000-211581000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:211557000-211581800	Weak transcription	Fetal Kidney	kidney
14	chr1:211557200-211566400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:211557200-211568000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:211557200-211568400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:211557200-211569600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:211557200-211571000	Weak transcription	Fetal Lung	lung
19	chr1:211557200-211572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:211557200-211573400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:211557400-211568000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:211557400-211569600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:211557400-211569600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:211557400-211570000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:211557400-211570600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:211557400-211570600	Weak transcription	Osteobl	bone
27	chr1:211557400-211571400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:211557400-211571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:211557400-211571600	Weak transcription	Fetal Heart	heart
30	chr1:211557400-211572800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:211557400-211572800	Weak transcription	K562	blood
32	chr1:211557400-211574400	Weak transcription	Brain Substantia Nigra	brain
33	chr1:211557400-211574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:211557400-211575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:211557400-211576000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:211557600-211571400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:211557600-211573400	Weak transcription	GM12878-XiMat	blood
38	chr1:211557600-211573400	Weak transcription	Hela-S3	cervix
39	chr1:211557600-211576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:211560800-211569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:211560800-211569800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:211560800-211571000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:211560800-211571400	Weak transcription	HSMMtube	muscle
44	chr1:211561600-211573000	Weak transcription	Right Ventricle	heart
45	chr1:211563400-211572000	Weak transcription	Primary T cells from cord blood	blood
46	chr1:211564400-211571400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:211564800-211570800	Weak transcription	Primary B cells from cord blood	blood
48	chr1:211565200-211566800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:211565200-211566800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:211565200-211566800	Strong transcription	Adipose Nuclei	Adipose

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