Variant report

Variant	rs3024881
Chromosome Location	chr2:191904287-191904288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191877704..191880210-chr2:191903610..191907241,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115415	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	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	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv998232	chr2:191841497-192020361	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191887000-191906600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:191891400-191906400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:191894600-191916200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:191895800-191906400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:191897600-191906400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:191898000-191906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:191898200-191914600	Weak transcription	Fetal Lung	lung
8	chr2:191898400-191906400	Weak transcription	Fetal Heart	heart
9	chr2:191900200-191916600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:191900800-191904400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:191901800-191916600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:191902200-191904400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr2:191902200-191904800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:191902200-191905000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:191902200-191905000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:191902400-191904800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:191902600-191904400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:191902600-191904400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:191902600-191904600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:191902600-191905000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:191902800-191904400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:191903000-191905000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:191903400-191912800	Weak transcription	Liver	Liver
24	chr2:191903600-191904400	Enhancers	A549	lung
25	chr2:191903600-191905200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:191903600-191906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:191903600-191906600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:191903800-191905000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:191903800-191906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:191903800-191906200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:191903800-191906200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:191903800-191906200	Weak transcription	Hela-S3	cervix
33	chr2:191903800-191906400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:191904000-191906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:191904000-191906200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:191904000-191906200	Weak transcription	HMEC	breast
37	chr2:191904000-191906200	Weak transcription	Osteobl	bone
38	chr2:191904000-191906400	Weak transcription	NH-A	brain
39	chr2:191904000-191906400	Weak transcription	NHEK	skin
40	chr2:191904000-191916800	Weak transcription	Small Intestine	intestine
41	chr2:191904200-191904600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:191904200-191904800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:191904200-191905000	Enhancers	NHDF-Ad	bronchial
44	chr2:191904200-191906000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:191904200-191906200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:191904200-191906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:191904200-191906200	Weak transcription	NHLF	lung
48	chr2:191904200-191906400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:191904200-191906400	Weak transcription	Esophagus	oesophagus
50	chr2:191904200-191906600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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