Variant report

Variant	rs56197274
Chromosome Location	chr2:179370132-179370133
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179368274..179373931-chr2:179383180..179392063,9	K562	blood:
2	chr2:179342810..179345540-chr2:179367269..179371367,3	MCF-7	breast:
3	chr2:179344603..179346799-chr2:179369620..179372071,2	K562	blood:
4	chr2:179363500..179366373-chr2:179369825..179372211,3	K562	blood:
5	chr2:179368753..179371424-chr2:179372285..179374100,2	MCF-7	breast:
6	chr2:179361307..179367061-chr2:179369825..179374602,5	K562	blood:
7	chr2:179369635..179372358-chr2:179374249..179376466,2	K562	blood:

Variant related genes	Relation type
ENSG00000079150	Chromatin interaction
ENSG00000237298	Chromatin interaction
ENSG00000116095	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56043418	1.00[AMR][1000 genomes]
rs56706093	1.00[AMR][1000 genomes]
rs61729159	1.00[AMR][1000 genomes]
rs73973116	1.00[AMR][1000 genomes]
rs73973119	1.00[AMR][1000 genomes]
rs73973120	1.00[AMR][1000 genomes]
rs73973123	1.00[AMR][1000 genomes]
rs7565338	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:179350400-179371600	Strong transcription	Dnd41	blood
5	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:179350800-179370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:179350800-179371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:179350800-179372000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:179350800-179372000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:179352800-179372200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:179353600-179371600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:179354000-179371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:179354400-179371400	Strong transcription	Placenta	Placenta
18	chr2:179354400-179371600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:179354400-179372000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:179354600-179373000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:179354600-179373000	Strong transcription	HSMM	muscle
22	chr2:179358200-179372800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:179358600-179370600	Strong transcription	Fetal Thymus	thymus
24	chr2:179359400-179371000	Weak transcription	Colonic Mucosa	Colon
25	chr2:179359400-179382800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:179359600-179371400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:179359600-179387600	Weak transcription	Right Ventricle	heart
28	chr2:179359600-179387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:179360600-179382400	Weak transcription	Gastric	stomach
30	chr2:179360600-179383200	Weak transcription	Pancreas	Pancrea
31	chr2:179360800-179376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:179360800-179383000	Weak transcription	Aorta	Aorta
33	chr2:179360800-179387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:179361000-179387800	Weak transcription	Spleen	Spleen
35	chr2:179361400-179371600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:179361400-179387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:179362000-179370200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:179362200-179371400	Weak transcription	Fetal Intestine Small	intestine
39	chr2:179362200-179371400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:179362200-179374000	Weak transcription	Fetal Stomach	stomach
41	chr2:179362400-179371600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:179363400-179371000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:179363600-179370200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:179363800-179370200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:179364000-179370800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:179364600-179382800	Weak transcription	Thymus	Thymus
47	chr2:179364800-179375600	Weak transcription	Hela-S3	cervix
48	chr2:179365000-179383000	Weak transcription	Lung	lung
49	chr2:179365600-179387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:179366000-179373400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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