Variant report

Variant	rs56390129
Chromosome Location	chr7:103844762-103844763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103844120..103846835-chr7:103848105..103849807,2	MCF-7	breast:
2	chr7:103839347..103842114-chr7:103842519..103845580,4	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10155973	0.97[EUR][1000 genomes]
rs10230637	0.94[EUR][1000 genomes]
rs10232393	0.97[EUR][1000 genomes]
rs10245622	0.97[EUR][1000 genomes]
rs10248278	0.94[EUR][1000 genomes]
rs10250051	0.97[EUR][1000 genomes]
rs10251976	0.94[EUR][1000 genomes]
rs10260238	0.94[EUR][1000 genomes]
rs10275705	0.97[EUR][1000 genomes]
rs10277637	0.94[EUR][1000 genomes]
rs10279675	0.97[EUR][1000 genomes]
rs10279892	0.97[EUR][1000 genomes]
rs10281636	0.94[EUR][1000 genomes]
rs16873424	0.94[EUR][1000 genomes]
rs2188287	0.84[AMR][1000 genomes]
rs55749110	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55901574	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56048667	0.91[AMR][1000 genomes]
rs57278162	0.97[EUR][1000 genomes]
rs59290626	0.97[EUR][1000 genomes]
rs6949887	0.94[EUR][1000 genomes]
rs6971709	0.97[EUR][1000 genomes]
rs73415708	0.94[EUR][1000 genomes]
rs73415709	0.94[EUR][1000 genomes]
rs73415735	0.97[EUR][1000 genomes]
rs73415737	0.97[EUR][1000 genomes]
rs9656093	0.97[EUR][1000 genomes]

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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
2	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
3	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:103832800-103846600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:103833800-103844800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:103836800-103844800	Strong transcription	A549	lung
7	chr7:103838400-103844800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:103839800-103847400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:103840000-103844800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:103840000-103845000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:103840000-103847200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:103840000-103847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:103840200-103844800	Strong transcription	NHDF-Ad	bronchial
14	chr7:103840400-103847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:103840600-103844800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:103840600-103847800	Weak transcription	Small Intestine	intestine
17	chr7:103840800-103844800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:103841000-103844800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:103841000-103846200	Weak transcription	NHLF	lung
20	chr7:103841800-103844800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:103841800-103844800	Strong transcription	K562	blood
22	chr7:103841800-103846800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:103841800-103846800	Weak transcription	Fetal Intestine Small	intestine
24	chr7:103842000-103844800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:103842400-103847200	Weak transcription	HSMMtube	muscle
26	chr7:103842400-103847400	Weak transcription	Lung	lung
27	chr7:103842600-103845000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:103842600-103846000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:103842600-103846200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:103842600-103846800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:103843000-103845400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:103843200-103844800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:103843200-103846400	Weak transcription	Brain Germinal Matrix	brain
34	chr7:103843600-103846200	Weak transcription	Psoas Muscle	Psoas
35	chr7:103843800-103846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:103843800-103846200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:103843800-103846800	Weak transcription	Colonic Mucosa	Colon
38	chr7:103843800-103846800	Weak transcription	Fetal Stomach	stomach
39	chr7:103843800-103847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:103843800-103847600	Weak transcription	Aorta	Aorta
41	chr7:103844000-103846200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:103844000-103846200	Weak transcription	Brain Angular Gyrus	brain
43	chr7:103844000-103846200	Weak transcription	Fetal Brain Female	brain
44	chr7:103844000-103846400	Weak transcription	Fetal Kidney	kidney
45	chr7:103844000-103846400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:103844000-103846800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:103844000-103847200	Weak transcription	Left Ventricle	heart
48	chr7:103844000-103847600	Weak transcription	Gastric	stomach
49	chr7:103844200-103845600	Weak transcription	Pancreas	Pancrea
50	chr7:103844200-103845800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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