Variant report

Variant	rs11603831
Chromosome Location	chr11:120483858-120483859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120433772..120435610-chr11:120482758..120484609,2	K562	blood:

Variant related genes	Relation type
ENSG00000149403	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10790388	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10892588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11600274	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11600354	0.91[EUR][1000 genomes]
rs11600894	0.92[EUR][1000 genomes]
rs11601552	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11602011	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11604139	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11605735	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12278532	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12278678	0.93[EUR][1000 genomes]
rs12281635	0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs12286173	0.98[EUR][1000 genomes]
rs12807172	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs34759019	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34884722	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4245039	0.95[ASN][1000 genomes]
rs4331108	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4367952	0.96[ASN][1000 genomes]
rs4445643	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs4565903	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs4611216	0.84[ASN][1000 genomes]
rs4631889	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs4936529	0.89[ASN][1000 genomes]
rs6589819	0.96[ASN][1000 genomes]
rs6589820	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs6589821	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7101412	0.99[ASN][1000 genomes]
rs7111020	0.92[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7127199	0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[ASN][1000 genomes]
rs7924856	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs7928043	0.81[ASN][1000 genomes]
rs7934084	0.96[ASN][1000 genomes]
rs7947677	0.96[ASN][1000 genomes]
rs7949316	1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs7952478	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120478800-120484400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:120479800-120484000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:120479800-120484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:120480200-120484600	Weak transcription	Right Atrium	heart
5	chr11:120480200-120487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:120480200-120489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:120481400-120484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120482600-120484200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:120482800-120484200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:120483200-120484600	Enhancers	Spleen	Spleen
11	chr11:120483200-120485000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:120483200-120485000	Flanking Active TSS	GM12878-XiMat	blood
13	chr11:120483400-120484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:120483400-120484200	Enhancers	HSMMtube	muscle
15	chr11:120483400-120484400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:120483400-120484400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120483400-120484400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:120483400-120484400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:120483400-120484600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:120483400-120484600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:120483400-120484600	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:120483400-120484600	Enhancers	HepG2	liver
23	chr11:120483400-120484600	Enhancers	HUVEC	blood vessel
24	chr11:120483400-120484800	Enhancers	Fetal Intestine Small	intestine
25	chr11:120483400-120485000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:120483400-120485200	Enhancers	Fetal Intestine Large	intestine
27	chr11:120483400-120485400	Enhancers	Ovary	ovary
28	chr11:120483600-120484000	Flanking Active TSS	Fetal Lung	lung
29	chr11:120483600-120484200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:120483600-120484200	Flanking Active TSS	A549	lung
31	chr11:120483600-120484400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:120483600-120484400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:120483600-120484400	Enhancers	Fetal Stomach	stomach
34	chr11:120483600-120484400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr11:120483600-120484400	Enhancers	Stomach Mucosa	stomach
36	chr11:120483600-120484600	Enhancers	Pancreas	Pancrea
37	chr11:120483600-120484800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:120483600-120484800	Enhancers	NHLF	lung
39	chr11:120483600-120485400	Enhancers	Placenta	Placenta
40	chr11:120483800-120484400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:120483800-120484400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr11:120483800-120484600	Enhancers	Rectal Mucosa Donor 31	rectum

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