Variant report

Variant	rs223622
Chromosome Location	chr2:32030889-32030890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:32030785-32031184	MCF-7	breast:	n/a	chr2:32030946-32030956 chr2:32030898-32030908 chr2:32030916-32030926
2	TCF3	chr2:32030835-32031126	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:32030771-32031191	A549	lung:	n/a	n/a
4	NFATC1	chr2:32030675-32031290	GM12878	blood:	n/a	n/a
5	BCL3	chr2:32030694-32031197	GM12878	blood:	n/a	n/a
6	CTCF	chr2:32030889-32031048	MCF-7	breast:	n/a	n/a
7	MYC	chr2:32030862-32030898	GM12878	blood:	n/a	n/a
8	NR2C2	chr2:32030733-32031138	GM12878	blood:	n/a	n/a
9	STAT5A	chr2:32030754-32031270	GM12878	blood:	n/a	chr2:32031175-32031183
10	MAX	chr2:32030759-32031112	HUVEC	blood vessel:	n/a	chr2:32030946-32030956 chr2:32030898-32030908 chr2:32030916-32030926
11	SUZ12	chr2:32030785-32031148	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:32030750-32031167	MCF-7	breast:	n/a	n/a
13	MAX	chr2:32030876-32031076	A549	lung:	n/a	chr2:32030946-32030956 chr2:32030898-32030908 chr2:32030916-32030926
14	SRF	chr2:32030776-32031044	GM12878	blood:	n/a	n/a
15	MYC	chr2:32030761-32031115	MCF-7	breast:	n/a	chr2:32030946-32030956 chr2:32030898-32030908 chr2:32030916-32030926
16	POLR2A	chr2:32030785-32031095	Gliobla	brain:	n/a	n/a
17	BCL3	chr2:32030679-32031268	GM12878	blood:	n/a	n/a
18	TCF3	chr2:32030825-32031222	GM12878	blood:	n/a	n/a
19	NFATC1	chr2:32030720-32031110	GM12878	blood:	n/a	n/a
20	CTCF	chr2:32030790-32031095	GM19239	blood:	n/a	n/a
21	CTCF	chr2:32030870-32031048	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:32030729-32031183	MCF-7	breast:	n/a	n/a
23	PBX3	chr2:32030737-32031182	GM12878	blood:	n/a	n/a
24	MYC	chr2:32030828-32031060	MCF-7	breast:	n/a	chr2:32030946-32030956 chr2:32030898-32030908 chr2:32030916-32030926
25	MYC	chr2:32030747-32031114	MCF-7	breast:	n/a	chr2:32030946-32030956 chr2:32030898-32030908 chr2:32030916-32030926

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31970053..31972527-chr2:32030742..32033629,2	K562	blood:
2	chr2:32017633..32020047-chr2:32030093..32031981,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223647	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13005816	1.00[YRI][hapmap]
rs160802	0.86[CEU][hapmap]
rs221196	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs223620	1.00[YRI][hapmap]
rs7560472	1.00[YRI][hapmap]

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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3376782	chr2:31861607-32046180	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32030800-32031000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:32030800-32031000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:32030800-32031000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr2:32030800-32031200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:32030800-32031200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:32030800-32031200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32030800-32031200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:32030800-32031200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:32030800-32031200	Enhancers	Lung	lung
10	chr2:32030800-32031200	ZNF genes & repeats	Pancreas	Pancrea
11	chr2:32030800-32031200	ZNF genes & repeats	Right Atrium	heart
12	chr2:32030800-32031200	Enhancers	HepG2	liver
13	chr2:32030800-32031400	Enhancers	Gastric	stomach
14	chr2:32030800-32034800	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links