Variant report

Variant	rs57198333
Chromosome Location	chr11:71688251-71688252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71687000..71689562-chr11:72144004..72145642,2	K562	blood:
2	chr11:71686454..71690373-chr11:71705743..71708400,3	K562	blood:
3	chr11:71688110..71690067-chr11:71938877..71941104,2	MCF-7	breast:
4	chr11:71676803..71679636-chr11:71686579..71688460,2	K562	blood:

Variant related genes	Relation type
ENSG00000165458	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10400327	1.00[AMR][1000 genomes]
rs1892922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2096784	1.00[AMR][1000 genomes]
rs5743667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743673	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743684	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58109845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58569034	1.00[AMR][1000 genomes]
rs58860532	1.00[AMR][1000 genomes]
rs58986282	1.00[AMR][1000 genomes]
rs59603657	1.00[AMR][1000 genomes]
rs59704482	1.00[AMR][1000 genomes]
rs60401386	1.00[AMR][1000 genomes]
rs60840528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61225837	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102392	1.00[AMR][1000 genomes]
rs7110215	1.00[AMR][1000 genomes]
rs7925196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949845	0.85[AFR][1000 genomes];1.00[AMR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660400-71701200	Weak transcription	Gastric	stomach
2	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
3	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
4	chr11:71663000-71689400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:71663000-71698000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:71666000-71694200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:71668800-71699000	Weak transcription	Right Ventricle	heart
8	chr11:71669800-71694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:71670600-71701000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:71672200-71688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:71672200-71698800	Weak transcription	NHEK	skin
12	chr11:71672200-71701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
14	chr11:71672400-71701000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:71672600-71689400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:71672600-71694400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:71672600-71694400	Weak transcription	Aorta	Aorta
19	chr11:71672600-71694600	Weak transcription	Esophagus	oesophagus
20	chr11:71672600-71698400	Weak transcription	Spleen	Spleen
21	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:71672800-71694600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:71673000-71697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:71673000-71698800	Weak transcription	Ovary	ovary
25	chr11:71673000-71701200	Weak transcription	Pancreas	Pancrea
26	chr11:71673200-71694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:71673600-71694400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:71673600-71698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:71673800-71688600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:71673800-71690200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:71673800-71690200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:71673800-71694000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:71673800-71698000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:71673800-71698400	Weak transcription	NHLF	lung
36	chr11:71673800-71701200	Weak transcription	Colonic Mucosa	Colon
37	chr11:71673800-71701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
39	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
40	chr11:71674200-71697400	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:71675000-71701200	Weak transcription	Fetal Brain Female	brain
42	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:71678000-71710600	Weak transcription	HMEC	breast
45	chr11:71681000-71689200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:71681000-71692600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:71681000-71693200	Weak transcription	Lung	lung
48	chr11:71681000-71698000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:71681200-71690800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:71681200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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