Variant report

Variant	rs2012213
Chromosome Location	chr2:173909659-173909660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:173909444-173909766	K562	blood:	n/a	n/a
2	HA-E2F1	chr2:173909125-173909904	MCF-7	breast:	n/a	n/a
3	EP300	chr2:173909301-173909926	MCF-7	breast:	n/a	chr2:173909569-173909576
4	RAD21	chr2:173909012-173909905	MCF-7	breast:	n/a	n/a
5	GATA3	chr2:173909362-173909856	T-47D	breast:	n/a	n/a
6	JUND	chr2:173909466-173909764	K562	blood:	n/a	n/a
7	FOSL2	chr2:173909340-173909890	MCF-7	breast:	n/a	n/a
8	MAX	chr2:173909075-173909905	MCF-7	breast:	n/a	n/a
9	GATA3	chr2:173909223-173910077	MCF-7	breast:	n/a	n/a
10	SIN3AK20	chr2:173908986-173910048	MCF-7	breast:	n/a	n/a
11	FOSL2	chr2:173909306-173909834	MCF-7	breast:	n/a	n/a
12	ZNF217	chr2:173909344-173909850	MCF-7	breast:	n/a	n/a
13	NR2F2	chr2:173909362-173909909	MCF-7	breast:	n/a	n/a
14	CEBPB	chr2:173909411-173909844	MCF-7	breast:	n/a	n/a
15	HDAC2	chr2:173909322-173909900	MCF-7	breast:	n/a	chr2:173909706-173909725 chr2:173909595-173909609
16	GATA3	chr2:173909419-173909772	MCF-7	breast:	n/a	n/a
17	GATA3	chr2:173909263-173909995	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173908637..173910994-chr2:174830078..174831720,2	MCF-7	breast:
2	chr2:173903027..173904652-chr2:173908089..173910075,2	MCF-7	breast:
3	chr2:173908929..173910664-chr2:173926220..173928176,2	K562	blood:
4	chr2:173885808..173888407-chr2:173907815..173910951,3	MCF-7	breast:
5	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:
6	chr13:29291574..29294456-chr2:173907850..173910644,2	MCF-7	breast:
7	chr2:173895149..173898676-chr2:173907706..173911844,6	MCF-7	breast:
8	chr2:173905270..173911343-chr2:173911871..173916630,12	MCF-7	breast:
9	chr2:173909580..173911400-chr2:173932850..173935097,2	MCF-7	breast:
10	chr2:173907933..173910689-chr2:173917476..173919133,2	K562	blood:

No data

Variant related genes	Relation type
RAPGEF4	TF binding region
ENSG00000265709	Chromatin interaction
ENSG00000172845	Chromatin interaction
ENSG00000139508	Chromatin interaction
ENSG00000091436	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10187560	0.90[CEU][hapmap]
rs10497403	0.82[CHD][hapmap]
rs12464956	0.82[ASW][hapmap];0.83[TSI][hapmap]
rs12474338	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12474484	0.83[AFR][1000 genomes]
rs1551248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1551249	0.94[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.97[LWK][hapmap];0.84[MKK][hapmap];0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1973037	0.94[ASW][hapmap];0.84[CEU][hapmap];0.82[CHD][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3769210	1.00[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3769211	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769213	0.94[ASW][hapmap];0.84[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3769215	0.91[GIH][hapmap]
rs3769216	0.81[CHD][hapmap]
rs60121307	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6717489	0.87[AFR][1000 genomes]
rs6717529	0.84[CEU][hapmap];0.82[GIH][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap]
rs6717735	0.88[ASW][hapmap];0.84[CEU][hapmap];0.84[GIH][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap]
rs6742219	0.87[CEU][hapmap];0.84[ASN][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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:173893000-173913200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:173901000-173918000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:173902800-173909800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:173904400-173921400	Weak transcription	Ovary	ovary
7	chr2:173904600-173913000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:173906400-173910200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:173906800-173912800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:173906800-173913000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:173907600-173910400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:173907800-173910400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:173908000-173910600	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:173908200-173910000	Enhancers	HMEC	breast
15	chr2:173908400-173910000	Enhancers	Placenta	Placenta
16	chr2:173908400-173910600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:173908400-173910600	Enhancers	NHLF	lung
18	chr2:173908600-173909800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:173908600-173910000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:173908600-173916800	Enhancers	Fetal Intestine Large	intestine
21	chr2:173908600-173921400	Weak transcription	Left Ventricle	heart
22	chr2:173908800-173909800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:173908800-173911200	Weak transcription	Fetal Heart	heart
24	chr2:173908800-173912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:173908800-173912800	Weak transcription	Stomach Mucosa	stomach
26	chr2:173908800-173914400	Weak transcription	Liver	Liver
27	chr2:173908800-173924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:173909000-173912800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:173909000-173916800	Enhancers	Fetal Intestine Small	intestine
30	chr2:173909200-173910000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:173909200-173910200	Enhancers	Colon Smooth Muscle	Colon
32	chr2:173909200-173910400	Enhancers	Fetal Stomach	stomach
33	chr2:173909200-173910600	Enhancers	Fetal Lung	lung
34	chr2:173909400-173909800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:173909400-173912800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:173909600-173909800	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:173909600-173909800	Enhancers	Pancreas	Pancrea
38	chr2:173909600-173909800	Enhancers	Small Intestine	intestine
39	chr2:173909600-173910000	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:173909600-173912800	Enhancers	A549	lung

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