Variant report

Variant	rs6760499
Chromosome Location	chr2:113271851-113271852
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	chr2:113270097..113272163-chr2:113274410..113275936,2	K562	blood:
2	chr2:113269592..113271917-chr2:113298456..113301388,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6705344	0.86[AFR][1000 genomes]
rs6714485	1.00[AFR][1000 genomes]
rs6731178	1.00[AFR][1000 genomes]
rs6735572	0.83[AFR][1000 genomes]
rs7583111	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr2:113241000-113277200	Weak transcription	Gastric	stomach
2	chr2:113241000-113277800	Weak transcription	Colonic Mucosa	Colon
3	chr2:113241200-113277800	Weak transcription	Pancreas	Pancrea
4	chr2:113241200-113278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:113241200-113286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:113241400-113279200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:113241600-113277200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
9	chr2:113241800-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:113241800-113286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:113245800-113277200	Weak transcription	Right Ventricle	heart
12	chr2:113245800-113277200	Weak transcription	Spleen	Spleen
13	chr2:113252000-113277800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:113252200-113272200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:113252200-113276600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:113252200-113277800	Weak transcription	Psoas Muscle	Psoas
17	chr2:113252800-113277200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:113253000-113272200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:113253000-113272200	Weak transcription	Fetal Kidney	kidney
20	chr2:113253000-113277000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:113253000-113277000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:113253000-113277800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:113253200-113272400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:113253200-113272800	Weak transcription	Fetal Intestine Large	intestine
25	chr2:113253200-113277000	Weak transcription	Lung	lung
26	chr2:113253200-113277200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:113253400-113277800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:113253600-113272200	Weak transcription	Primary T cells from cord blood	blood
29	chr2:113253600-113272600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:113253600-113276800	Weak transcription	HSMMtube	muscle
31	chr2:113253800-113272200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:113253800-113275400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:113253800-113277800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:113259800-113272000	Weak transcription	GM12878-XiMat	blood
35	chr2:113260000-113277000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:113260000-113277800	Weak transcription	Aorta	Aorta
37	chr2:113260200-113272200	Weak transcription	A549	lung
38	chr2:113260200-113277200	Weak transcription	Thymus	Thymus
39	chr2:113260600-113277800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:113260600-113278000	Weak transcription	Ovary	ovary
41	chr2:113260800-113272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:113260800-113272400	Weak transcription	Primary B cells from cord blood	blood
43	chr2:113260800-113272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:113260800-113272600	Weak transcription	Fetal Brain Female	brain
45	chr2:113260800-113272800	Weak transcription	Osteobl	bone
46	chr2:113260800-113274200	Weak transcription	Left Ventricle	heart
47	chr2:113260800-113275600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:113260800-113277000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:113260800-113277200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:113260800-113277200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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