Variant report

Variant	rs7167956
Chromosome Location	chr15:50344513-50344514
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	CTCF	chr15:50344480-50344630	GM12873	blood:	n/a	n/a
2	CTCF	chr15:50344480-50344630	AG04450	lung:	n/a	n/a
3	EP300	chr15:50343804-50344595	A549	lung:	n/a	n/a
4	RAD21	chr15:50343877-50344551	A549	lung:	n/a	chr15:50344211-50344230
5	SMC3	chr15:50343790-50344902	SK-N-SH	brain:	n/a	chr15:50344218-50344228
6	CTCF	chr15:50344500-50344650	RPTEC	kidney:	n/a	n/a
7	CTCF	chr15:50344420-50344570	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr15:50343933-50344643	MCF-7	breast:	n/a	chr15:50344208-50344229 chr15:50344213-50344231
9	TCF12	chr15:50343660-50344552	A549	lung:	n/a	n/a
10	RAD21	chr15:50344018-50344644	A549	lung:	n/a	chr15:50344211-50344230
11	CTCF	chr15:50343976-50344534	IMR90	lung:	n/a	chr15:50344208-50344229 chr15:50344213-50344231
12	CTCF	chr15:50344484-50344595	Gliobla	brain:	n/a	n/a
13	CTCF	chr15:50343894-50344527	HCT-116	colon:	n/a	chr15:50344208-50344229 chr15:50344213-50344231
14	RAD21	chr15:50343778-50344584	A549	lung:	n/a	chr15:50344211-50344230
15	RAD21	chr15:50343423-50344658	SK-N-SH	brain:	n/a	chr15:50344211-50344230
16	RAD21	chr15:50343759-50344648	MCF-7	breast:	n/a	chr15:50344211-50344230
17	RAD21	chr15:50343902-50344651	IMR90	lung:	n/a	chr15:50344211-50344230
18	CTCF	chr15:50344460-50344610	HVMF	connective:	n/a	n/a
19	CTCF	chr15:50343486-50344815	A549	lung:	n/a	chr15:50344208-50344229 chr15:50344213-50344231
20	CTCF	chr15:50343875-50344890	SK-N-SH	brain:	n/a	chr15:50344208-50344229 chr15:50344213-50344231
21	GATA3	chr15:50343733-50344635	A549	lung:	n/a	chr15:50344528-50344537
22	CTCF	chr15:50343812-50344532	MCF-7	breast:	n/a	chr15:50344208-50344229 chr15:50344213-50344231

No.	Distal block	Cell Line	Cell type
1	chr15:50343838..50344709-chr15:50437300..50438173,3	MCF-7	breast:
2	chr15:50293833..50297239-chr15:50342287..50344568,3	MCF-7	breast:
3	chr15:50167729..50168355-chr15:50343722..50344667,4	MCF-7	breast:
4	chr15:49813709..49814641-chr15:50343905..50344674,5	MCF-7	breast:
5	chr15:50295676..50296612-chr15:50343747..50344632,9	MCF-7	breast:
6	chr15:50168577..50169691-chr15:50343449..50344653,12	MCF-7	breast:
7	chr15:50343799..50344658-chr15:50430684..50431213,3	MCF-7	breast:
8	chr15:49918504..49920160-chr15:50344164..50346378,2	MCF-7	breast:
9	chr15:50124508..50125493-chr15:50343834..50344700,3	MCF-7	breast:
10	chr15:50168669..50169329-chr15:50343948..50344644,2	MCF-7	breast:
11	chr15:49898446..49899204-chr15:50344444..50344972,2	MCF-7	breast:
12	chr15:49813884..49814632-chr15:50343852..50344661,2	MCF-7	breast:
13	chr15:50342963..50345133-chr15:50348674..50350890,2	MCF-7	breast:
14	chr15:50166426..50168186-chr15:50342851..50345400,2	MCF-7	breast:

Variant related genes	Relation type
ATP8B4	TF binding region
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28579120	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57531448	0.92[ASN][1000 genomes]
rs6493396	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6493397	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7178403	1.00[ASN][1000 genomes]
rs8025221	0.82[AMR][1000 genomes]
rs8041437	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1530	chr15:50302524-50347616	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr15:50337400-50347400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:50339400-50347200	Weak transcription	Aorta	Aorta
3	chr15:50341200-50347000	Weak transcription	Right Atrium	heart
4	chr15:50341400-50346200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:50341600-50347000	Enhancers	NHDF-Ad	bronchial
6	chr15:50341600-50347200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:50342400-50347400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:50343000-50351200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:50343200-50347000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:50343200-50347000	Enhancers	Osteobl	bone
11	chr15:50343400-50346000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:50343400-50352000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:50343400-50352400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:50343600-50344600	Enhancers	Brain Angular Gyrus	brain
15	chr15:50343600-50344600	Enhancers	Brain Hippocampus Middle	brain
16	chr15:50343600-50344600	Enhancers	Colon Smooth Muscle	Colon
17	chr15:50343600-50344800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:50343600-50344800	Enhancers	Rectal Smooth Muscle	rectum
19	chr15:50343600-50344800	Enhancers	Hela-S3	cervix
20	chr15:50343600-50344800	Enhancers	HSMM	muscle
21	chr15:50343600-50348600	Enhancers	Fetal Intestine Large	intestine
22	chr15:50343800-50344600	Enhancers	Brain Substantia Nigra	brain
23	chr15:50343800-50344600	Enhancers	Fetal Kidney	kidney
24	chr15:50343800-50344600	Enhancers	Fetal Lung	lung
25	chr15:50343800-50344600	Enhancers	Fetal Stomach	stomach
26	chr15:50343800-50345400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr15:50343800-50346200	Enhancers	Fetal Intestine Small	intestine
28	chr15:50344000-50344600	Enhancers	Adipose Nuclei	Adipose
29	chr15:50344000-50344600	Enhancers	Brain Cingulate Gyrus	brain
30	chr15:50344200-50344800	Enhancers	A549	lung
31	chr15:50344200-50344800	Enhancers	NHLF	lung
32	chr15:50344200-50345800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:50344200-50346000	Enhancers	Primary hematopoietic stem cells	blood
34	chr15:50344200-50347000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:50344200-50356600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr15:50344400-50344600	Enhancers	Psoas Muscle	Psoas
37	chr15:50344400-50344600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr15:50344400-50344600	Enhancers	Small Intestine	intestine
39	chr15:50344400-50345200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:50344400-50345800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links