Variant report

Variant	rs2192616
Chromosome Location	chr1:223311520-223311521
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	chr1:223295440..223297086-chr1:223310909..223313590,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11485986	1.00[EUR][1000 genomes]
rs11488545	1.00[EUR][1000 genomes]
rs11488546	1.00[EUR][1000 genomes]
rs11488550	1.00[EUR][1000 genomes]
rs1416691	1.00[EUR][1000 genomes]
rs2609375	1.00[EUR][1000 genomes]
rs2609376	1.00[EUR][1000 genomes]
rs3768284	1.00[EUR][1000 genomes]
rs5744102	1.00[EUR][1000 genomes]
rs5744153	1.00[EUR][1000 genomes]
rs61743732	1.00[EUR][1000 genomes]
rs6675057	1.00[EUR][1000 genomes]
rs74145600	1.00[EUR][1000 genomes]
rs851160	1.00[EUR][1000 genomes]
rs851215	1.00[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223303200-223314600	Weak transcription	Spleen	Spleen
2	chr1:223307600-223311600	Enhancers	Adipose Nuclei	Adipose
3	chr1:223307600-223311600	Enhancers	Placenta	Placenta
4	chr1:223307600-223314200	Weak transcription	Right Ventricle	heart
5	chr1:223307600-223315800	Weak transcription	Right Atrium	heart
6	chr1:223307800-223312600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:223308600-223314000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:223308800-223314000	Weak transcription	Gastric	stomach
9	chr1:223308800-223314000	Weak transcription	Pancreas	Pancrea
10	chr1:223308800-223314000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:223308800-223314400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:223308800-223314600	Weak transcription	Colonic Mucosa	Colon
13	chr1:223309000-223311600	Enhancers	Fetal Lung	lung
14	chr1:223309000-223314200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:223309200-223315800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:223309400-223316000	Weak transcription	NHLF	lung
17	chr1:223309600-223314600	Weak transcription	Ovary	ovary
18	chr1:223309600-223314600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:223309800-223313000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:223309800-223313600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:223309800-223314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:223309800-223315600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:223310200-223316000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:223310400-223311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:223310400-223311600	Enhancers	Brain Anterior Caudate	brain
26	chr1:223310400-223311600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:223310400-223311600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:223310600-223311600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:223310600-223311600	Enhancers	Fetal Intestine Small	intestine
30	chr1:223310600-223314000	Weak transcription	Esophagus	oesophagus
31	chr1:223310600-223314000	Weak transcription	Psoas Muscle	Psoas
32	chr1:223310600-223314200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:223310600-223315400	Weak transcription	Lung	lung
34	chr1:223310800-223311600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:223311000-223314200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:223311200-223311600	Enhancers	Fetal Thymus	thymus
37	chr1:223311200-223311800	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr1:223311200-223314000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:223311200-223314000	Weak transcription	NHDF-Ad	bronchial
40	chr1:223311200-223314200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:223311200-223314200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:223311200-223314400	Weak transcription	HMEC	breast
43	chr1:223311200-223314400	Weak transcription	NHEK	skin
44	chr1:223311200-223314600	Weak transcription	Stomach Mucosa	stomach
45	chr1:223311200-223315800	Weak transcription	Hela-S3	cervix
46	chr1:223311200-223316000	Weak transcription	Liver	Liver
47	chr1:223311400-223314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:223311400-223314200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:223311400-223316000	Weak transcription	Fetal Intestine Large	intestine

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