Variant report

Variant	rs7182346
Chromosome Location	chr15:57023417-57023418
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57022824..57025649-chr15:57612283..57614634,3	K562	blood:
2	chr15:57023111..57027218-chr15:57209095..57213054,4	K562	blood:
3	chr15:57022824..57027100-chr15:57611258..57614634,3	K562	blood:
4	chr15:56993897..56995437-chr15:57022399..57024475,2	K562	blood:
5	chr15:57022349..57024643-chr15:57034116..57035934,2	K562	blood:
6	chr15:57021470..57024723-chr15:57024853..57027079,3	K562	blood:
7	chr15:57023339..57026885-chr15:57210242..57212303,3	MCF-7	breast:
8	chr15:57006002..57008817-chr15:57023119..57025487,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction
ENSG00000260172	Chromatin interaction
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1010699	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11071282	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs11071283	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs11630334	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11634444	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11635201	0.84[ASN][1000 genomes]
rs11636534	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12441674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1657928	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1657932	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1657933	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1657942	0.85[EUR][1000 genomes]
rs1660965	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1680488	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16977060	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16977067	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2113678	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2128172	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs28441487	0.84[ASN][1000 genomes]
rs28463927	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28497695	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28620046	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28678122	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.91[YRI][hapmap]
rs4774890	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4774891	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs534005	0.94[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7164084	1.00[CEU][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72744977	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8031966	1.00[ASW][hapmap];0.94[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs809459	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56993000-57024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:56994000-57023800	Weak transcription	Fetal Kidney	kidney
3	chr15:56997200-57023800	Weak transcription	Fetal Stomach	stomach
4	chr15:56998800-57023800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:57009400-57024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:57011600-57024400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:57011600-57024400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:57011800-57024000	Weak transcription	Aorta	Aorta
9	chr15:57012400-57025000	Weak transcription	Spleen	Spleen
10	chr15:57013400-57024200	Weak transcription	Ovary	ovary
11	chr15:57019200-57023800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:57020800-57023800	Enhancers	Colon Smooth Muscle	Colon
13	chr15:57020800-57024400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr15:57021200-57024000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr15:57021200-57024000	Enhancers	Brain Substantia Nigra	brain
16	chr15:57021200-57024200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:57021400-57023800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:57021400-57024200	Enhancers	Adipose Nuclei	Adipose
19	chr15:57021400-57024200	Enhancers	Brain Hippocampus Middle	brain
20	chr15:57021800-57023800	Enhancers	Rectal Smooth Muscle	rectum
21	chr15:57021800-57023800	Enhancers	NHDF-Ad	bronchial
22	chr15:57021800-57024200	Enhancers	Fetal Lung	lung
23	chr15:57021800-57024200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr15:57022200-57024000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:57022200-57024000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:57022400-57023600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:57022400-57023800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:57022400-57023800	Enhancers	Right Ventricle	heart
29	chr15:57022400-57024200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:57022400-57024400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:57022600-57023600	Enhancers	Fetal Brain Female	brain
32	chr15:57022600-57023800	Enhancers	Brain Cingulate Gyrus	brain
33	chr15:57022600-57023800	Enhancers	HepG2	liver
34	chr15:57022600-57023800	Enhancers	HUVEC	blood vessel
35	chr15:57022600-57024000	Enhancers	Liver	Liver
36	chr15:57022600-57024000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:57022600-57024000	Enhancers	Fetal Intestine Small	intestine
38	chr15:57022600-57024000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr15:57022600-57024000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr15:57022600-57024000	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr15:57022600-57024000	Enhancers	Hela-S3	cervix
42	chr15:57022600-57024000	Enhancers	NHEK	skin
43	chr15:57022600-57024200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr15:57022600-57024200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:57022600-57024200	Enhancers	Fetal Heart	heart
46	chr15:57022600-57024400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:57022600-57024400	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:57022600-57024400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr15:57022600-57024400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:57022600-57024400	Enhancers	Stomach Mucosa	stomach

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