Variant report

Variant	rs11042195
Chromosome Location	chr11:9157707-9157708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9149953..9152541-chr11:9155189..9157810,2	K562	blood:
2	chr11:9022966..9025427-chr11:9154942..9157918,2	K562	blood:
3	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
4	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:
5	chr11:9104308..9106078-chr11:9156890..9159293,2	MCF-7	breast:
6	chr11:9041862..9044730-chr11:9157486..9160225,2	MCF-7	breast:
7	chr11:9023067..9025427-chr11:9156418..9158861,2	K562	blood:

Variant related genes	Relation type
ENSG00000175356	Chromatin interaction
ENSG00000264984	Chromatin interaction
ENSG00000213538	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10047438	0.87[ASN][1000 genomes]
rs1039210	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10769991	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769992	0.83[JPT][hapmap]
rs10769993	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs10769995	0.87[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10769996	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840174	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840176	0.97[ASN][1000 genomes]
rs10840178	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840179	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840183	0.87[ASN][1000 genomes]
rs10840185	0.87[ASN][1000 genomes]
rs11042199	0.83[JPT][hapmap]
rs11604616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1353730	0.86[EUR][1000 genomes]
rs16906742	0.81[AFR][1000 genomes]
rs17256375	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1874822	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1997628	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2133217	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2291839	0.92[JPT][hapmap]
rs2647533	0.85[JPT][hapmap]
rs2647537	0.92[JPT][hapmap]
rs2742556	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2742557	0.82[ASN][1000 genomes]
rs3898554	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4910035	0.83[ASN][1000 genomes]
rs56216908	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7109745	0.89[ASN][1000 genomes]
rs7123970	0.86[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128469	0.82[ASN][1000 genomes]
rs7395347	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7395846	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7947251	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7948219	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9888257	0.92[JPT][hapmap]

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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
2	chr11:9134800-9159000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:9134800-9161200	Weak transcription	Fetal Brain Male	brain
4	chr11:9136400-9159200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:9137200-9159000	Weak transcription	Fetal Heart	heart
6	chr11:9141600-9158400	Weak transcription	Pancreas	Pancrea
7	chr11:9142400-9163000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:9142600-9159000	Weak transcription	Adipose Nuclei	Adipose
9	chr11:9142600-9159200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:9143400-9159200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:9143400-9161200	Weak transcription	Aorta	Aorta
13	chr11:9143600-9159000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:9143800-9158800	Weak transcription	Fetal Brain Female	brain
15	chr11:9144400-9161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:9146400-9158400	Weak transcription	Gastric	stomach
17	chr11:9146400-9159200	Weak transcription	K562	blood
18	chr11:9146600-9158800	Weak transcription	Lung	lung
19	chr11:9147000-9158800	Weak transcription	A549	lung
20	chr11:9148400-9158400	Weak transcription	GM12878-XiMat	blood
21	chr11:9148400-9159000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:9148400-9159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:9148400-9159200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:9148600-9159000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:9148800-9158000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:9148800-9159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:9149000-9158800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:9149400-9157800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:9150600-9160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:9151600-9158400	Weak transcription	HSMMtube	muscle
31	chr11:9151800-9159000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:9151800-9160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:9152000-9157800	Strong transcription	Fetal Stomach	stomach
35	chr11:9152000-9158800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:9152000-9159800	Weak transcription	Liver	Liver
37	chr11:9152200-9160600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:9152400-9158400	Weak transcription	Thymus	Thymus
39	chr11:9152400-9159000	Weak transcription	Fetal Intestine Small	intestine
40	chr11:9152400-9159000	Weak transcription	Hela-S3	cervix
41	chr11:9152600-9157800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:9152600-9158400	Weak transcription	Fetal Thymus	thymus
43	chr11:9152600-9158800	Weak transcription	Fetal Lung	lung
44	chr11:9152600-9159000	Weak transcription	HepG2	liver
45	chr11:9152600-9160200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:9152800-9159000	Weak transcription	Fetal Intestine Large	intestine
47	chr11:9152800-9159000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:9152800-9159600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:9153000-9159000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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