Variant report

Variant	rs2947845
Chromosome Location	chr2:73930356-73930357
allele	C/T
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	POLR2A	chr2:73929948-73930440	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73868945..73872912-chr2:73927731..73932752,4	MCF-7	breast:
2	chr2:73920861..73923082-chr2:73929614..73932212,2	K562	blood:

Variant related genes	Relation type
ENSG00000204872	TF binding region
ENSG00000144035	Chromatin interaction
ENSG00000163016	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11126411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11689234	0.88[CHB][hapmap]
rs12478871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap]
rs12991161	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13027816	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2280506	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2280507	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap]
rs2421581	0.84[CEU][hapmap]
rs2421586	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2421587	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2421669	0.84[CEU][hapmap]
rs2948441	0.84[CEU][hapmap];1.00[YRI][hapmap]
rs4511748	0.84[CEU][hapmap]
rs4627598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4852311	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4852951	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4852954	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4852974	0.82[CHB][hapmap]
rs6546858	0.83[YRI][hapmap]
rs6546870	0.84[CEU][hapmap]
rs6742619	0.82[YRI][hapmap]
rs6744273	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6745480	0.83[YRI][hapmap]
rs7570683	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7579068	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7607989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874275	chr2:73847024-73931971	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
7	nsv874277	chr2:73870010-73931971	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv874278	chr2:73870010-73931971	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3426494	chr2:73876125-73939153	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3460808	chr2:73877074-73940302	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3460809	chr2:73877074-73940302	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv829461	chr2:73877427-73931225	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv2753082	chr2:73891045-73955545	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv979022	chr2:73897805-73932073	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv34157	chr2:73901718-73949151	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
18	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv1003153	chr2:73927235-73975416	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73900600-73954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:73902200-73931400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:73926000-73931000	Enhancers	Fetal Intestine Small	intestine
4	chr2:73926200-73930600	Enhancers	Fetal Lung	lung
5	chr2:73927000-73931400	Enhancers	Placenta	Placenta
6	chr2:73927200-73932600	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:73927200-73932600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:73927200-73932800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:73927800-73954800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:73928000-73930600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:73928400-73930600	Weak transcription	Right Atrium	heart
12	chr2:73928400-73936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:73929200-73930800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:73929200-73936400	Enhancers	Fetal Intestine Large	intestine
15	chr2:73929400-73931000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:73929600-73930600	Weak transcription	Gastric	stomach
17	chr2:73929600-73930800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:73929800-73930600	Bivalent Enhancer	HepG2	liver
19	chr2:73929800-73930800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:73929800-73930800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:73929800-73930800	Weak transcription	Spleen	Spleen
22	chr2:73929800-73931200	Enhancers	Liver	Liver
23	chr2:73929800-73931800	Weak transcription	K562	blood
24	chr2:73929800-73934200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:73929800-73934400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:73929800-73934600	Weak transcription	Colonic Mucosa	Colon
27	chr2:73930000-73930400	Weak transcription	Lung	lung
28	chr2:73930000-73930400	Weak transcription	Ovary	ovary
29	chr2:73930000-73930800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:73930200-73930600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:73930200-73930800	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links