Variant report

Variant	rs3779130
Chromosome Location	chr7:139705843-139705844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139287081..139287714-chr7:139705354..139706228,2	K562	blood:
2	chr7:139705364..139706338-chr7:140025755..140026704,5	MCF-7	breast:
3	chr7:138969130..138969841-chr7:139705419..139706276,2	MCF-7	breast:
4	chr7:139704249..139705856-chr7:139707585..139709805,2	MCF-7	breast:
5	chr7:139474297..139476701-chr7:139704235..139706049,2	K562	blood:
6	chr7:139705358..139706253-chr7:140025500..140026651,4	K562	blood:
7	chr5:1794905..1795739-chr7:139705398..139706186,2	HCT-116	colon:
8	chr7:139330399..139331374-chr7:139705278..139706280,3	MCF-7	breast:
9	chr7:139673231..139674907-chr7:139703990..139705986,2	K562	blood:
10	chr7:139303399..139304382-chr7:139705078..139705887,3	MCF-7	breast:
11	chr7:139305538..139306133-chr7:139705389..139706293,2	MCF-7	breast:
12	chr7:139705414..139706320-chr7:139778657..139779430,2	MCF-7	breast:
13	chr7:139700285..139702105-chr7:139703103..139705891,2	MCF-7	breast:
14	chr7:139700628..139703211-chr7:139704425..139707140,2	K562	blood:
15	chr7:139328626..139331873-chr7:139705431..139708585,4	K562	blood:
16	chr7:139705363..139705896-chr7:140042658..140043424,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11761051	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2010742	0.92[ASN][1000 genomes]
rs2267704	0.86[CHB][hapmap]
rs2267705	0.95[CHB][hapmap];0.81[CHD][hapmap]
rs2267706	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs2284212	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs2362457	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3823715	0.81[EUR][1000 genomes]
rs740204	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7789470	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7795996	0.82[CHB][hapmap];0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS 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	15 gene(s)	inside rSNPs	diseases
3	esv1828807	chr7:139675550-139727974	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv608476	chr7:139696248-139717200	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv608477	chr7:139697043-139718147	Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139681000-139717800	Weak transcription	Thymus	Thymus
2	chr7:139691200-139706000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:139692000-139706400	Weak transcription	Spleen	Spleen
4	chr7:139693200-139729000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:139695000-139707400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:139695200-139721600	Weak transcription	Colonic Mucosa	Colon
7	chr7:139695400-139706000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:139695800-139706400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:139695800-139709000	Weak transcription	Gastric	stomach
10	chr7:139699000-139707200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:139699200-139706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:139702200-139712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:139702200-139721800	Weak transcription	Fetal Thymus	thymus
14	chr7:139702400-139722400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:139702600-139742200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:139703200-139727800	Weak transcription	Right Atrium	heart
17	chr7:139704200-139710200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:139704200-139728800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:139704600-139706600	Enhancers	K562	blood
20	chr7:139704800-139707400	Weak transcription	Lung	lung
21	chr7:139705400-139706400	Enhancers	Fetal Heart	heart
22	chr7:139705400-139722000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:139705600-139706000	Enhancers	HepG2	liver
24	chr7:139705600-139706200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:139705600-139706200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:139705600-139706200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:139705600-139706200	Enhancers	A549	lung

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