Variant report

Variant	rs73916931
Chromosome Location	chr2:20828686-20828687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
2	chr2:20665586..20667484-chr2:20827548..20829987,2	MCF-7	breast:
3	chr2:20826020..20829529-chr2:20830645..20833872,5	MCF-7	breast:
4	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
5	chr2:20827354..20828915-chr2:20830990..20833952,3	K562	blood:

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16987945	0.95[ASN][1000 genomes]
rs4426492	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55766730	0.91[ASN][1000 genomes]
rs62122090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62122091	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62125673	0.86[ASN][1000 genomes]
rs62125674	0.95[ASN][1000 genomes]
rs62125675	0.95[ASN][1000 genomes]
rs62125676	0.95[ASN][1000 genomes]
rs62125677	0.95[ASN][1000 genomes]
rs6708069	0.95[ASN][1000 genomes]
rs72784303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73916930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20815000-20831800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:20817400-20831400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:20817400-20835200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:20817600-20832200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:20817800-20833800	Weak transcription	Fetal Thymus	thymus
9	chr2:20818200-20835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:20818200-20835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:20818400-20828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:20818400-20828800	Weak transcription	Fetal Brain Male	brain
13	chr2:20818400-20831800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:20818800-20833600	Weak transcription	A549	lung
15	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:20819400-20834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:20819800-20834200	Weak transcription	Osteobl	bone
20	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:20821400-20831800	Weak transcription	NHEK	skin
23	chr2:20822000-20832600	Weak transcription	Hela-S3	cervix
24	chr2:20822200-20828800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:20823000-20833600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:20823000-20833600	Weak transcription	HSMMtube	muscle
27	chr2:20823000-20842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:20823200-20831800	Weak transcription	HMEC	breast
29	chr2:20823400-20834200	Weak transcription	Small Intestine	intestine
30	chr2:20824000-20833600	Strong transcription	Fetal Intestine Small	intestine
31	chr2:20824400-20828800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:20824400-20829000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:20824600-20828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:20824600-20828800	Weak transcription	Brain Germinal Matrix	brain
35	chr2:20824600-20828800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:20824600-20829000	Weak transcription	Liver	Liver
37	chr2:20824600-20829000	Weak transcription	Fetal Lung	lung
38	chr2:20824600-20829200	Weak transcription	Fetal Brain Female	brain
39	chr2:20824600-20833600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:20824600-20834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:20824600-20834200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:20824600-20835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:20824600-20837400	Weak transcription	Thymus	Thymus
44	chr2:20824600-20837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:20824600-20839000	Weak transcription	Dnd41	blood
46	chr2:20824800-20828800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:20824800-20829200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:20824800-20829200	Weak transcription	Ovary	ovary
49	chr2:20824800-20829400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:20824800-20837400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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