Variant report

Variant	rs56278796
Chromosome Location	chr7:7215478-7215479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7204006..7207074-chr7:7212584..7216605,3	K562	blood:
2	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106392	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1008896	0.83[ASN][1000 genomes]
rs10215143	0.91[ASN][1000 genomes]
rs10242378	0.91[ASN][1000 genomes]
rs10244392	0.88[ASN][1000 genomes]
rs10252611	0.91[ASN][1000 genomes]
rs10253466	0.89[ASN][1000 genomes]
rs10253709	0.89[ASN][1000 genomes]
rs10260052	0.90[ASN][1000 genomes]
rs10260457	0.91[ASN][1000 genomes]
rs10273490	0.91[ASN][1000 genomes]
rs10275169	0.91[ASN][1000 genomes]
rs10280795	0.91[ASN][1000 genomes]
rs10282249	0.90[ASN][1000 genomes]
rs11760845	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11773799	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11981957	0.91[ASN][1000 genomes]
rs13228554	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234672	0.91[ASN][1000 genomes]
rs17164679	0.91[ASN][1000 genomes]
rs17165258	0.85[ASN][1000 genomes]
rs17165285	0.85[ASN][1000 genomes]
rs28883357	0.90[ASN][1000 genomes]
rs34466774	0.92[ASN][1000 genomes]
rs35234968	0.91[ASN][1000 genomes]
rs35660747	0.91[ASN][1000 genomes]
rs61048998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6942455	0.92[ASN][1000 genomes]
rs6945013	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6951671	0.91[ASN][1000 genomes]
rs6977673	0.91[ASN][1000 genomes]
rs71533354	0.91[ASN][1000 genomes]
rs71533355	0.91[ASN][1000 genomes]
rs71533359	0.91[ASN][1000 genomes]
rs71533362	0.90[ASN][1000 genomes]
rs71533363	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv428160	chr7:6936949-7219553	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
16	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
18	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7205800-7220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:7205800-7220800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:7208000-7216600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:7211200-7220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:7212000-7220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:7212200-7216000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:7212800-7218800	Strong transcription	Primary B cells from cord blood	blood
8	chr7:7212800-7220800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:7213000-7216400	Enhancers	HepG2	liver
10	chr7:7213000-7220400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:7213000-7220400	Weak transcription	Dnd41	blood
12	chr7:7213400-7219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:7213600-7216000	Enhancers	NHEK	skin
14	chr7:7213600-7220800	Enhancers	HMEC	breast
15	chr7:7213800-7216400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:7213800-7216400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:7213800-7216800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:7213800-7217600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:7214000-7216600	Enhancers	Placenta	Placenta
20	chr7:7214000-7217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:7215000-7215600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:7215000-7215600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:7215000-7216000	Weak transcription	K562	blood
24	chr7:7215000-7216400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:7215000-7216400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:7215000-7216400	Enhancers	NHDF-Ad	bronchial
27	chr7:7215000-7217000	Enhancers	Primary T cells from cord blood	blood
28	chr7:7215000-7217600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:7215000-7217800	Enhancers	Fetal Intestine Large	intestine
30	chr7:7215200-7215600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:7215200-7215800	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:7215200-7215800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:7215200-7217200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:7215200-7217600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:7215200-7217800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:7215200-7217800	Enhancers	HSMM	muscle
37	chr7:7215200-7218800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:7215400-7216200	Enhancers	HUVEC	blood vessel
39	chr7:7215400-7216200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr7:7215400-7217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:7215400-7217800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:7215400-7218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:7215400-7218800	Enhancers	Hela-S3	cervix
44	chr7:7215400-7218800	Enhancers	Osteobl	bone

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