Variant report

Variant	rs73237147
Chromosome Location	chr2:20847447-20847448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20846492..20848427-chr2:20848941..20850854,2	MCF-7	breast:
2	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
3	chr2:20834621..20842195-chr2:20845758..20852616,8	MCF-7	breast:
4	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10176721	1.00[EUR][1000 genomes]
rs10200826	1.00[EUR][1000 genomes]
rs10201427	1.00[EUR][1000 genomes]
rs10203073	1.00[EUR][1000 genomes]
rs11893093	1.00[EUR][1000 genomes]
rs1437408	1.00[EUR][1000 genomes]
rs16988071	1.00[EUR][1000 genomes]
rs1866043	1.00[EUR][1000 genomes]
rs340605	1.00[EUR][1000 genomes]
rs340608	1.00[EUR][1000 genomes]
rs340614	1.00[EUR][1000 genomes]
rs548324	1.00[EUR][1000 genomes]
rs553687	1.00[EUR][1000 genomes]
rs56737091	1.00[EUR][1000 genomes]
rs571566	1.00[EUR][1000 genomes]
rs57494499	1.00[EUR][1000 genomes]
rs57524662	1.00[EUR][1000 genomes]
rs582107	1.00[EUR][1000 genomes]
rs58590712	1.00[EUR][1000 genomes]
rs58696000	1.00[EUR][1000 genomes]
rs59882809	1.00[EUR][1000 genomes]
rs60283906	1.00[EUR][1000 genomes]
rs61478003	1.00[EUR][1000 genomes]
rs642152	1.00[EUR][1000 genomes]
rs648568	1.00[EUR][1000 genomes]
rs662193	1.00[EUR][1000 genomes]
rs6736533	1.00[EUR][1000 genomes]
rs6759981	1.00[EUR][1000 genomes]
rs73224614	1.00[EUR][1000 genomes]
rs73235054	1.00[EUR][1000 genomes]
rs73235060	1.00[EUR][1000 genomes]
rs73235063	1.00[EUR][1000 genomes]
rs73235064	1.00[EUR][1000 genomes]
rs73235072	1.00[EUR][1000 genomes]
rs73235079	1.00[EUR][1000 genomes]
rs73235100	1.00[EUR][1000 genomes]
rs73237114	1.00[EUR][1000 genomes]
rs73237135	1.00[EUR][1000 genomes]
rs839914	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv517472	chr2:20814583-20855176	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv873725	chr2:20814583-20855176	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
7	nsv999269	chr2:20824833-20869372	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv873726	chr2:20829962-20876260	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv873727	chr2:20838318-20876260	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:20828800-20847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:20832600-20850000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:20834800-20849600	Weak transcription	Small Intestine	intestine
10	chr2:20835400-20849800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:20835600-20847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:20835600-20848800	Weak transcription	Fetal Lung	lung
13	chr2:20835600-20849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:20835600-20849800	Weak transcription	Fetal Heart	heart
15	chr2:20836000-20847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:20836000-20850000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:20839800-20849400	Weak transcription	Thymus	Thymus
18	chr2:20840800-20849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:20840800-20849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:20842000-20847800	Weak transcription	HSMM	muscle
21	chr2:20842200-20849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:20842200-20849800	Weak transcription	NH-A	brain
23	chr2:20842200-20850000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:20842400-20847600	Weak transcription	Stomach Mucosa	stomach
25	chr2:20842600-20847600	Weak transcription	Right Atrium	heart
26	chr2:20842600-20849000	Weak transcription	Fetal Brain Male	brain
27	chr2:20842600-20849200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:20842800-20849400	Weak transcription	Hela-S3	cervix
29	chr2:20842800-20849800	Weak transcription	A549	lung
30	chr2:20843200-20849200	Weak transcription	HMEC	breast
31	chr2:20844000-20849400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:20844600-20849200	Weak transcription	Dnd41	blood
33	chr2:20844800-20847600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:20844800-20850000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:20845000-20847800	Weak transcription	Liver	Liver
36	chr2:20845000-20849800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:20845200-20848400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:20845200-20848800	Weak transcription	Fetal Brain Female	brain
39	chr2:20845200-20849400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:20845200-20849400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:20845200-20849600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:20845200-20849600	Weak transcription	Osteobl	bone
43	chr2:20845400-20848800	Weak transcription	Ovary	ovary
44	chr2:20845400-20849200	Weak transcription	NHEK	skin
45	chr2:20845400-20849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:20845600-20849000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:20845600-20849000	Weak transcription	NHDF-Ad	bronchial
48	chr2:20845600-20849200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:20845600-20849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:20845600-20849800	Weak transcription	Primary T cells from cord blood	blood

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