Variant report

Variant	rs11235944
Chromosome Location	chr11:73607272-73607273
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	chr11:73586122..73588850-chr11:73605359..73608736,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1122373	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11235921	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235924	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235940	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235941	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235948	0.92[ASN][1000 genomes]
rs11235956	0.91[ASN][1000 genomes]
rs12269892	0.92[ASN][1000 genomes]
rs12280222	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12284235	0.83[ASN][1000 genomes]
rs12284670	0.93[ASN][1000 genomes]
rs12287418	0.90[ASN][1000 genomes]
rs12291665	0.91[ASN][1000 genomes]
rs12294934	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12295206	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420040	0.92[ASN][1000 genomes]
rs17132368	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17132495	0.81[ASN][1000 genomes]
rs2010583	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2067913	0.81[ASN][1000 genomes]
rs3741138	0.92[ASN][1000 genomes]
rs3741139	0.94[ASN][1000 genomes]
rs56006060	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56380005	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58695771	0.93[ASN][1000 genomes]
rs7116620	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7119602	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73549968	0.94[ASN][1000 genomes]
rs935988	0.81[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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588600-73610200	Weak transcription	Gastric	stomach
2	chr11:73588600-73610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:73588600-73611200	Weak transcription	Aorta	Aorta
4	chr11:73588800-73610200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:73588800-73610600	Weak transcription	Spleen	Spleen
6	chr11:73588800-73610800	Weak transcription	Lung	lung
7	chr11:73588800-73610800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:73588800-73611200	Weak transcription	Right Ventricle	heart
9	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:73588800-73625200	Weak transcription	Small Intestine	intestine
12	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
13	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
14	chr11:73589000-73610000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:73589000-73610200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:73589000-73610200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
18	chr11:73589200-73611200	Weak transcription	Brain Substantia Nigra	brain
19	chr11:73589400-73609800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73589400-73610000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:73589400-73629200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:73590000-73610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:73590000-73611200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:73591200-73610200	Weak transcription	Pancreas	Pancrea
25	chr11:73591400-73610200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:73591400-73610200	Weak transcription	Esophagus	oesophagus
27	chr11:73591600-73618000	Weak transcription	K562	blood
28	chr11:73595600-73610200	Weak transcription	Ovary	ovary
29	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:73598600-73610200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:73598800-73611200	Weak transcription	Hela-S3	cervix
32	chr11:73600400-73610200	Weak transcription	Fetal Lung	lung
33	chr11:73600400-73618000	Weak transcription	Fetal Heart	heart
34	chr11:73600800-73610000	Weak transcription	HMEC	breast
35	chr11:73600800-73610200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:73601000-73610000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
38	chr11:73601400-73610000	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:73601600-73609600	Weak transcription	GM12878-XiMat	blood
40	chr11:73601600-73610000	Weak transcription	Brain Anterior Caudate	brain
41	chr11:73601600-73610200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:73601600-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:73601800-73611200	Weak transcription	HepG2	liver
44	chr11:73602000-73609800	Weak transcription	NHEK	skin
45	chr11:73602000-73610200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:73602000-73610600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:73602000-73622800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:73602000-73624000	Weak transcription	Psoas Muscle	Psoas
49	chr11:73602200-73610000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:73602200-73610800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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