Variant report

Variant	rs60996420
Chromosome Location	chr11:63599958-63599959
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	chr11:63592382..63594241-chr11:63598180..63600535,2	K562	blood:
2	chr11:63597538..63602989-chr11:63603448..63608044,6	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1499641	1.00[AMR][1000 genomes]
rs2133545	1.00[AMR][1000 genomes]
rs320106	1.00[AMR][1000 genomes]
rs320132	1.00[AMR][1000 genomes]
rs56892076	1.00[AMR][1000 genomes]
rs59337858	1.00[AMR][1000 genomes]
rs73492282	1.00[AMR][1000 genomes]
rs73494137	1.00[AMR][1000 genomes]
rs73494180	1.00[AMR][1000 genomes]
rs7948086	1.00[AMR][1000 genomes]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr11:63582200-63604600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63582400-63604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:63582600-63604800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:63582600-63604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:63583600-63604600	Weak transcription	Fetal Brain Male	brain
6	chr11:63584200-63604600	Weak transcription	Fetal Heart	heart
7	chr11:63584200-63604800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:63588800-63604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:63589200-63605000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:63590600-63604600	Weak transcription	K562	blood
11	chr11:63590800-63605200	Weak transcription	Small Intestine	intestine
12	chr11:63591000-63604600	Weak transcription	HMEC	breast
13	chr11:63591000-63604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:63592000-63604600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:63592400-63600000	Weak transcription	Primary B cells from cord blood	blood
16	chr11:63592400-63604600	Weak transcription	Fetal Kidney	kidney
17	chr11:63592600-63600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:63592600-63602200	Weak transcription	Colonic Mucosa	Colon
19	chr11:63592600-63604800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:63592600-63604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:63592800-63604400	Weak transcription	Hela-S3	cervix
22	chr11:63592800-63604600	Weak transcription	Pancreas	Pancrea
23	chr11:63592800-63604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:63592800-63605000	Weak transcription	Liver	Liver
25	chr11:63593000-63604600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:63593000-63604600	Weak transcription	NHEK	skin
27	chr11:63593000-63605200	Weak transcription	NHDF-Ad	bronchial
28	chr11:63593000-63606400	Weak transcription	Aorta	Aorta
29	chr11:63593200-63604800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:63594000-63604600	Weak transcription	Stomach Mucosa	stomach
31	chr11:63594000-63605600	Weak transcription	HSMMtube	muscle
32	chr11:63594200-63605000	Weak transcription	Fetal Lung	lung
33	chr11:63594200-63605200	Weak transcription	NH-A	brain
34	chr11:63594200-63605600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:63594400-63604800	Weak transcription	Primary T cells from cord blood	blood
36	chr11:63594400-63604800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:63594400-63604800	Weak transcription	HUVEC	blood vessel
38	chr11:63594400-63605000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:63594400-63605400	Weak transcription	HSMM	muscle
40	chr11:63594400-63605400	Weak transcription	Osteobl	bone
41	chr11:63594600-63602200	Weak transcription	HepG2	liver
42	chr11:63594600-63604400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:63594600-63604600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:63594600-63605000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:63594600-63606400	Weak transcription	Ovary	ovary
46	chr11:63594800-63604600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:63594800-63605000	Weak transcription	A549	lung
48	chr11:63595000-63602800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:63595000-63604400	Weak transcription	Gastric	stomach
50	chr11:63595000-63604800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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