Variant report

Variant	rs56380154
Chromosome Location	chr7:139572674-139572675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139560052..139562588-chr7:139571257..139573633,2	MCF-7	breast:
2	chr7:139569956..139571774-chr7:139572106..139574390,3	K562	blood:
3	chr7:139569956..139571774-chr7:139571776..139574105,3	K562	blood:
4	chr7:139566001..139568670-chr7:139571558..139574331,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17161175	1.00[EUR][1000 genomes]
rs17161190	1.00[EUR][1000 genomes]
rs17161194	1.00[EUR][1000 genomes]
rs17161198	0.90[EUR][1000 genomes]
rs17161199	1.00[EUR][1000 genomes]
rs17161200	1.00[EUR][1000 genomes]
rs17161201	1.00[EUR][1000 genomes]
rs55723240	1.00[EUR][1000 genomes]
rs56847881	1.00[EUR][1000 genomes]
rs58206741	1.00[EUR][1000 genomes]
rs59134510	1.00[EUR][1000 genomes]
rs59445537	1.00[EUR][1000 genomes]
rs60560151	1.00[EUR][1000 genomes]
rs73734120	1.00[EUR][1000 genomes]
rs73734125	1.00[EUR][1000 genomes]
rs73734133	1.00[EUR][1000 genomes]
rs73734134	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9886179	0.90[EUR][1000 genomes]
rs9886217	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139567400-139598400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139568800-139574600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:139569600-139574600	Strong transcription	Primary hematopoietic stem cells	blood
4	chr7:139569800-139575600	Weak transcription	Small Intestine	intestine
5	chr7:139570000-139572800	Weak transcription	Lung	lung
6	chr7:139570000-139587800	Weak transcription	Primary B cells from cord blood	blood
7	chr7:139570200-139575200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:139570400-139574800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:139570600-139575600	Weak transcription	Gastric	stomach
10	chr7:139570800-139575600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:139571200-139596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:139571400-139574400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:139571400-139574600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:139571400-139575400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:139571600-139572800	Weak transcription	Right Atrium	heart
16	chr7:139571600-139572800	Weak transcription	HUVEC	blood vessel
17	chr7:139571600-139573600	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:139571600-139574600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:139571600-139575600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:139571600-139577200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:139571600-139582400	Weak transcription	Colonic Mucosa	Colon
22	chr7:139571800-139574400	Strong transcription	Thymus	Thymus
23	chr7:139571800-139575200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:139571800-139584000	Weak transcription	Fetal Kidney	kidney
25	chr7:139572000-139573400	Strong transcription	Fetal Thymus	thymus
26	chr7:139572000-139576600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:139572000-139576600	Weak transcription	Osteobl	bone
28	chr7:139572000-139577400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:139572000-139577600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:139572000-139579800	Weak transcription	NH-A	brain
31	chr7:139572200-139575400	Weak transcription	Stomach Mucosa	stomach
32	chr7:139572200-139575800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:139572200-139576000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:139572200-139576600	Weak transcription	NHLF	lung
35	chr7:139572400-139572800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:139572600-139573200	Genic enhancers	Spleen	Spleen
37	chr7:139572600-139573600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr7:139572600-139573800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:139572600-139574000	Enhancers	Adipose Nuclei	Adipose
40	chr7:139572600-139575000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links