Variant report

Variant	rs12993791
Chromosome Location	chr2:233690082-233690083
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	chr2:233683047..233685214-chr2:233687358..233690299,2	K562	blood:
2	chr2:233688669..233690296-chr2:233693900..233696171,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10210953	0.86[EUR][1000 genomes]
rs1078323	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688166	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11689851	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11893358	0.81[EUR][1000 genomes]
rs12619195	0.87[EUR][1000 genomes]
rs12999865	0.81[EUR][1000 genomes]
rs13001052	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007579	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13008436	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13009957	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13021823	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024330	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1446309	0.93[ASN][1000 genomes]
rs17164	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1973675	0.81[EUR][1000 genomes]
rs2289911	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293780	0.81[EUR][1000 genomes]
rs2344611	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2344613	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2592104	0.88[EUR][1000 genomes]
rs283465	0.93[EUR][1000 genomes]
rs283467	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs283487	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34707169	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35491427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144795	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4144797	0.83[EUR][1000 genomes]
rs4973563	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62193271	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6716488	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs737027	0.81[EUR][1000 genomes]
rs7560115	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs778371	0.82[ASN][1000 genomes]
rs921055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974321	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:233667800-233693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:233669200-233690400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:233669400-233690400	Strong transcription	Dnd41	blood
8	chr2:233669400-233703600	Strong transcription	Liver	Liver
9	chr2:233669600-233690400	Strong transcription	Placenta	Placenta
10	chr2:233669600-233690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:233669800-233692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:233670000-233690800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:233670200-233692200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:233670200-233702600	Strong transcription	HepG2	liver
17	chr2:233670600-233692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:233670800-233690400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr2:233671000-233692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
22	chr2:233671200-233690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:233678200-233698200	Weak transcription	Stomach Mucosa	stomach
24	chr2:233679400-233693400	Strong transcription	HSMM	muscle
25	chr2:233679600-233692200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:233680600-233698600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:233681600-233702400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:233681800-233694800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:233681800-233695400	Weak transcription	Esophagus	oesophagus
30	chr2:233681800-233695600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:233681800-233695600	Weak transcription	Right Ventricle	heart
32	chr2:233681800-233695800	Weak transcription	Gastric	stomach
33	chr2:233681800-233702200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:233682000-233695400	Weak transcription	Small Intestine	intestine
35	chr2:233682800-233690400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:233683000-233690400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:233683000-233695400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:233683000-233695400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:233683600-233695800	Weak transcription	HMEC	breast
40	chr2:233684000-233690800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:233684200-233691000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:233684400-233702400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:233684600-233690600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr2:233684600-233694000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:233684800-233694400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:233685400-233690200	Strong transcription	Fetal Brain Female	brain
47	chr2:233685400-233690400	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr2:233686200-233690600	Strong transcription	HSMMtube	muscle
49	chr2:233686200-233694800	Weak transcription	Spleen	Spleen
50	chr2:233686200-233696600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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