Variant report

Variant	rs2675972
Chromosome Location	chr2:233726836-233726837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
2	chr2:233723605..233727098-chr2:233736700..233739372,3	MCF-7	breast:
3	chr2:233725993..233729161-chr2:233734807..233736601,3	K562	blood:

Variant related genes	Relation type
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10210953	0.85[EUR][1000 genomes]
rs1083522	0.94[ASN][1000 genomes]
rs11535	0.94[ASN][1000 genomes]
rs11893358	0.81[EUR][1000 genomes]
rs12619195	0.85[EUR][1000 genomes]
rs12999865	0.80[EUR][1000 genomes]
rs13007579	0.85[EUR][1000 genomes]
rs13009957	0.87[EUR][1000 genomes]
rs13024330	0.87[EUR][1000 genomes]
rs1973675	0.81[EUR][1000 genomes]
rs2289911	0.83[EUR][1000 genomes]
rs2293780	0.81[EUR][1000 genomes]
rs2675953	0.94[ASN][1000 genomes]
rs2675954	0.94[ASN][1000 genomes]
rs2675968	0.94[ASN][1000 genomes]
rs4973563	0.82[EUR][1000 genomes]
rs4973564	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs709937	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs737027	0.81[EUR][1000 genomes]
rs748002	0.94[ASN][1000 genomes]
rs7560115	0.84[EUR][1000 genomes]
rs778370	0.93[ASN][1000 genomes]
rs938569	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:233704600-233728000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:233705600-233727800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:233712000-233728200	Strong transcription	Fetal Stomach	stomach
6	chr2:233718600-233727800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:233718600-233727800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:233718800-233727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:233720000-233727000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:233720800-233727800	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:233721200-233727800	Strong transcription	Brain Anterior Caudate	brain
12	chr2:233721400-233727800	Genic enhancers	Fetal Intestine Small	intestine
13	chr2:233722400-233727400	Weak transcription	Fetal Heart	heart
14	chr2:233722400-233728200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:233722400-233728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
17	chr2:233723000-233733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:233723200-233728600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:233723200-233733200	Weak transcription	Small Intestine	intestine
21	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
22	chr2:233723200-233738600	Weak transcription	K562	blood
23	chr2:233723600-233728000	Weak transcription	NH-A	brain
24	chr2:233723600-233728400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:233723600-233729800	Weak transcription	HUVEC	blood vessel
26	chr2:233723600-233734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
29	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:233724000-233728400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:233724000-233729200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:233724000-233729600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:233724000-233734600	Weak transcription	Brain Substantia Nigra	brain
34	chr2:233724000-233736000	Weak transcription	Fetal Brain Male	brain
35	chr2:233724200-233732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:233724200-233733800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:233724200-233738600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:233724400-233734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:233724600-233728200	Weak transcription	NHDF-Ad	bronchial
40	chr2:233724600-233729600	Weak transcription	Aorta	Aorta
41	chr2:233724600-233734200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:233724600-233738600	Weak transcription	Esophagus	oesophagus
43	chr2:233724800-233727600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:233724800-233732800	Weak transcription	Hela-S3	cervix
45	chr2:233724800-233734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:233725000-233728800	Weak transcription	GM12878-XiMat	blood
47	chr2:233725000-233735800	Weak transcription	Fetal Thymus	thymus
48	chr2:233726000-233727600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:233726000-233727600	Weak transcription	Dnd41	blood
50	chr2:233726000-233727800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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