Variant report

Variant	rs4944864
Chromosome Location	chr11:73453785-73453786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73452902..73456262-chr11:73469805..73472702,3	K562	blood:
2	chr11:73453380..73456038-chr11:73496235..73498225,2	K562	blood:
3	chr11:73436414..73438047-chr11:73451402..73453892,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11235903	0.87[EUR][1000 genomes]
rs1525750	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1525751	0.90[EUR][1000 genomes]
rs1670548	0.83[EUR][1000 genomes]
rs1723834	0.83[EUR][1000 genomes]
rs1723838	0.89[EUR][1000 genomes]
rs1723839	0.90[EUR][1000 genomes]
rs1723842	0.90[EUR][1000 genomes]
rs1723844	0.90[EUR][1000 genomes]
rs1723845	0.87[EUR][1000 genomes]
rs1723846	0.87[EUR][1000 genomes]
rs1723849	0.98[EUR][1000 genomes]
rs1792157	0.83[EUR][1000 genomes]
rs1792195	0.98[EUR][1000 genomes]
rs1792196	0.98[EUR][1000 genomes]
rs1880642	0.90[EUR][1000 genomes]
rs1880643	0.90[EUR][1000 genomes]
rs1976914	0.83[EUR][1000 genomes]
rs2037706	0.83[EUR][1000 genomes]
rs2037709	0.90[EUR][1000 genomes]
rs2056649	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2366944	0.90[EUR][1000 genomes]
rs2462617	0.83[EUR][1000 genomes]
rs2511263	0.90[EUR][1000 genomes]
rs2511265	0.90[EUR][1000 genomes]
rs2511269	0.83[EUR][1000 genomes]
rs2515091	0.83[EUR][1000 genomes]
rs4548648	0.83[EUR][1000 genomes]
rs4944026	0.90[EUR][1000 genomes]
rs4944027	0.90[EUR][1000 genomes]
rs4944030	0.90[EUR][1000 genomes]
rs4944854	0.83[EUR][1000 genomes]
rs4944857	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4944859	0.94[EUR][1000 genomes]
rs4944860	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4944865	0.96[EUR][1000 genomes]
rs6592528	0.83[EUR][1000 genomes]
rs6592529	0.90[EUR][1000 genomes]
rs7396121	0.90[EUR][1000 genomes]
rs7942515	0.90[EUR][1000 genomes]
rs940831	0.90[EUR][1000 genomes]
rs9634024	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	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
6	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
2	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
3	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
4	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
5	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:73422400-73454000	Weak transcription	Gastric	stomach
7	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:73430000-73460800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:73430600-73456800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:73430600-73460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:73430600-73462800	Weak transcription	HMEC	breast
12	chr11:73430600-73468800	Weak transcription	NHLF	lung
13	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:73432000-73460600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:73432000-73460600	Weak transcription	Placenta	Placenta
16	chr11:73432000-73462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:73432000-73465200	Weak transcription	NHEK	skin
19	chr11:73436600-73460600	Weak transcription	Small Intestine	intestine
20	chr11:73436800-73458600	Weak transcription	K562	blood
21	chr11:73436800-73458800	Weak transcription	A549	lung
22	chr11:73436800-73461000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:73437000-73461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:73441000-73458800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:73441200-73462800	Weak transcription	Fetal Thymus	thymus
28	chr11:73441200-73464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:73441200-73468600	Weak transcription	Dnd41	blood
30	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:73441600-73456600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:73441800-73462600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:73442200-73458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:73442200-73469600	Weak transcription	HSMM	muscle
35	chr11:73442400-73461600	Weak transcription	HUVEC	blood vessel
36	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
37	chr11:73442600-73460800	Weak transcription	Pancreas	Pancrea
38	chr11:73446400-73459000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:73446600-73456200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:73446600-73456200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:73446600-73468800	Weak transcription	NHDF-Ad	bronchial
44	chr11:73446800-73462600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:73446800-73468400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:73447000-73462600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:73447000-73463800	Weak transcription	NH-A	brain
48	chr11:73447200-73453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:73447800-73463200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:73448200-73462400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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