Variant report

Variant	rs557201552
Chromosome Location	chr2:234384510-234384511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234377261..234380113-chr2:234384331..234386065,2	MCF-7	breast:
2	chr2:234382718..234385306-chr2:234606454..234608053,2	MCF-7	breast:
3	chr2:234382281..234385759-chr2:234386993..234388960,3	MCF-7	breast:
4	chr2:234377166..234379474-chr2:234382800..234384518,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv3214	chr2:234384436-234416949	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
6	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
7	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
10	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:234375200-234388000	Strong transcription	Lung	lung
15	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:234375600-234387400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:234376000-234389400	Weak transcription	NH-A	brain
18	chr2:234376200-234390200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:234377800-234385600	Weak transcription	Aorta	Aorta
20	chr2:234377800-234391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:234377800-234397200	Weak transcription	Small Intestine	intestine
22	chr2:234378000-234387000	Weak transcription	HSMM	muscle
23	chr2:234378200-234395000	Weak transcription	Right Atrium	heart
24	chr2:234378400-234388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:234378400-234390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:234378400-234390800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:234378400-234391000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:234378600-234391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:234378800-234384800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:234378800-234391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:234379000-234386600	Weak transcription	HepG2	liver
32	chr2:234379000-234391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:234379400-234384600	Weak transcription	Brain Germinal Matrix	brain
34	chr2:234379400-234384600	Weak transcription	Fetal Lung	lung
35	chr2:234379400-234388400	Weak transcription	Stomach Mucosa	stomach
36	chr2:234379600-234386400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:234379800-234384800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:234380200-234384600	Weak transcription	Psoas Muscle	Psoas
39	chr2:234380200-234384600	Weak transcription	Dnd41	blood
40	chr2:234380400-234390200	Weak transcription	HMEC	breast
41	chr2:234380800-234386000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:234380800-234395000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:234381000-234384600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:234381200-234394800	Strong transcription	Pancreas	Pancrea
45	chr2:234381400-234384600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:234381400-234389000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:234381600-234384600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:234381600-234385200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:234381600-234391000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:234381600-234393400	Weak transcription	Primary hematopoietic stem cells	blood

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