Variant report

Variant	rs56179440
Chromosome Location	chr2:191440586-191440587
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	chr2:191435113..191437081-chr2:191440439..191443139,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16832758	0.90[AFR][1000 genomes]
rs4129213	0.83[AFR][1000 genomes]
rs55684676	0.83[AFR][1000 genomes]
rs56123211	0.83[AFR][1000 genomes]
rs56171560	0.83[AFR][1000 genomes]
rs56218257	0.83[AFR][1000 genomes]
rs56392719	0.83[AFR][1000 genomes]
rs56872342	0.83[AFR][1000 genomes]
rs59765171	0.90[AFR][1000 genomes]
rs60268167	0.83[AFR][1000 genomes]
rs73979261	0.81[AFR][1000 genomes]
rs73979282	0.90[AFR][1000 genomes]
rs73979293	0.90[AFR][1000 genomes]
rs73979295	0.83[AFR][1000 genomes]
rs73979296	1.00[AFR][1000 genomes]
rs73979297	0.90[AFR][1000 genomes]
rs73979298	0.83[AFR][1000 genomes]
rs73979299	0.83[AFR][1000 genomes]
rs73979302	0.90[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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
2	chr2:191427200-191443000	Weak transcription	Right Ventricle	heart
3	chr2:191427600-191441400	Weak transcription	Aorta	Aorta
4	chr2:191433000-191440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:191435400-191443000	Weak transcription	Left Ventricle	heart
6	chr2:191436800-191442800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:191436800-191443000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:191437400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:191438400-191440800	Weak transcription	Fetal Heart	heart
11	chr2:191438400-191441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:191438400-191441400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:191438400-191442600	Weak transcription	Stomach Mucosa	stomach
14	chr2:191438400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:191438400-191442800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:191438400-191442800	Weak transcription	Fetal Lung	lung
17	chr2:191438400-191442800	Weak transcription	Small Intestine	intestine
18	chr2:191439200-191441400	Weak transcription	Hela-S3	cervix
19	chr2:191439200-191441400	Weak transcription	K562	blood
20	chr2:191439200-191442600	Weak transcription	Fetal Stomach	stomach
21	chr2:191439400-191440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:191439400-191441000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:191439400-191441000	Weak transcription	A549	lung
24	chr2:191439400-191441000	Weak transcription	NHEK	skin
25	chr2:191439400-191441200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:191439400-191441400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:191439400-191441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:191439400-191442600	Weak transcription	HMEC	breast
29	chr2:191439400-191442800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:191439600-191440800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:191439600-191441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:191439800-191440600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:191439800-191441000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:191439800-191441000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:191439800-191442800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:191439800-191443000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:191440000-191441000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:191440000-191441000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:191440200-191440600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:191440200-191442800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:191440400-191440600	Enhancers	Colon Smooth Muscle	Colon
42	chr2:191440400-191440600	Enhancers	Fetal Thymus	thymus
43	chr2:191440400-191440600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:191440400-191440800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr2:191440400-191441000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:191440400-191441400	Enhancers	Rectal Smooth Muscle	rectum

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