Variant report

Variant	rs11831946
Chromosome Location	chr12:51446936-51446937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51446842-51446939	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:51446896-51447137	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51446371..51449109-chr12:51475954..51477544,3	K562	blood:
2	chr12:51446671..51449109-chr12:51475852..51477454,2	K562	blood:
3	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
4	chr12:51445541..51448064-chr12:51474329..51477358,3	MCF-7	breast:
5	chr12:51444294..51447069-chr12:51453786..51456012,3	MCF-7	breast:

No data

Variant related genes	Relation type
LETMD1	TF binding region
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1005559	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs1038525	0.83[ASN][1000 genomes]
rs1048230	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10506298	0.83[EUR][1000 genomes]
rs10506299	0.83[EUR][1000 genomes]
rs10747602	0.83[ASN][1000 genomes]
rs10747604	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169633	0.82[EUR][1000 genomes]
rs11169636	0.82[EUR][1000 genomes]
rs11169637	0.82[EUR][1000 genomes]
rs11169639	0.80[EUR][1000 genomes]
rs11169641	0.82[EUR][1000 genomes]
rs11169642	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11169644	0.82[EUR][1000 genomes]
rs11169647	0.82[EUR][1000 genomes]
rs11169648	0.82[EUR][1000 genomes]
rs11169649	0.82[EUR][1000 genomes]
rs11169652	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs11169654	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11169655	0.83[EUR][1000 genomes]
rs11169661	0.83[EUR][1000 genomes]
rs11169667	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11169669	0.83[EUR][1000 genomes]
rs11169670	0.83[EUR][1000 genomes]
rs11169671	0.83[EUR][1000 genomes]
rs11169672	0.83[EUR][1000 genomes]
rs11169682	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169712	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169731	0.88[JPT][hapmap]
rs11519977	0.82[EUR][1000 genomes]
rs11831810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11833022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11834746	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12366476	0.82[EUR][1000 genomes]
rs12366756	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12369639	0.83[CEU][hapmap]
rs12370820	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12371463	0.84[EUR][1000 genomes]
rs12372173	0.87[EUR][1000 genomes]
rs12809563	0.82[EUR][1000 genomes]
rs12809790	0.82[ASN][1000 genomes]
rs12810174	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12810455	0.87[EUR][1000 genomes]
rs12810596	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810659	0.83[EUR][1000 genomes]
rs12810700	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810990	0.82[ASN][1000 genomes]
rs12811508	0.81[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs12811658	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12811684	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12812650	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12813309	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12813368	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12813728	0.83[EUR][1000 genomes]
rs12814498	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12817386	0.83[EUR][1000 genomes]
rs12818033	0.82[EUR][1000 genomes]
rs12819225	0.87[EUR][1000 genomes]
rs12819517	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12820074	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12820966	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12821444	0.82[EUR][1000 genomes]
rs12822509	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12823402	0.85[EUR][1000 genomes]
rs12824225	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12824958	0.85[CEU][hapmap]
rs12826153	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12827861	0.83[EUR][1000 genomes]
rs12828349	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12828536	0.87[EUR][1000 genomes]
rs12829630	0.87[EUR][1000 genomes]
rs12830048	0.82[EUR][1000 genomes]
rs12830073	0.87[EUR][1000 genomes]
rs12830422	0.80[EUR][1000 genomes]
rs12831269	0.83[EUR][1000 genomes]
rs12833314	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12833565	0.87[EUR][1000 genomes]
rs15897	0.83[EUR][1000 genomes]
rs17125137	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs17296192	0.81[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs2285228	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2285230	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2301529	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs34057357	0.83[EUR][1000 genomes]
rs34481246	0.87[EUR][1000 genomes]
rs34735738	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35037088	0.82[EUR][1000 genomes]
rs4768964	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768967	0.92[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580784	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6580792	0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs6580793	0.81[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs67133203	0.85[EUR][1000 genomes]
rs67259551	0.83[EUR][1000 genomes]
rs67260912	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67293043	0.87[EUR][1000 genomes]
rs7135059	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71445772	0.82[EUR][1000 genomes]
rs7305638	0.82[EUR][1000 genomes]
rs7306293	0.82[EUR][1000 genomes]
rs73090655	0.80[EUR][1000 genomes]
rs7954140	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7959075	0.82[EUR][1000 genomes]
rs7959082	0.82[EUR][1000 genomes]
rs7960381	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs7964570	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7972406	0.87[EUR][1000 genomes]
rs7975147	0.87[EUR][1000 genomes]
rs7976777	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7978723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980874	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs970098	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs970099	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51442800-51448200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51442800-51449000	Weak transcription	Aorta	Aorta
3	chr12:51442800-51449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51442800-51450000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:51442800-51452800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:51443000-51447000	Weak transcription	Lung	lung
8	chr12:51443000-51448200	Weak transcription	Gastric	stomach
9	chr12:51443000-51453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:51443200-51447200	Weak transcription	Ovary	ovary
11	chr12:51443200-51447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:51443200-51449600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:51443400-51447000	Weak transcription	Spleen	Spleen
14	chr12:51443400-51447200	Weak transcription	Pancreas	Pancrea
15	chr12:51443400-51447400	Weak transcription	HSMM	muscle
16	chr12:51443400-51447600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:51443400-51448200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:51443400-51448200	Weak transcription	Esophagus	oesophagus
19	chr12:51443400-51449200	Weak transcription	Right Ventricle	heart
20	chr12:51443400-51452600	Weak transcription	Stomach Mucosa	stomach
21	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:51443600-51447000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:51443600-51447200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:51443600-51447400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:51443600-51447400	Weak transcription	Primary B cells from cord blood	blood
26	chr12:51443600-51447600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:51443600-51447800	Weak transcription	Brain Angular Gyrus	brain
28	chr12:51443600-51448600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:51443600-51451600	Weak transcription	Colonic Mucosa	Colon
30	chr12:51443600-51451800	Weak transcription	Small Intestine	intestine
31	chr12:51443600-51452600	Weak transcription	Psoas Muscle	Psoas
32	chr12:51443600-51457400	Weak transcription	Fetal Brain Male	brain
33	chr12:51443600-51459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:51443600-51462800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:51443800-51447000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:51443800-51447400	Weak transcription	Fetal Lung	lung
37	chr12:51443800-51447800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:51443800-51448000	Weak transcription	NHLF	lung
39	chr12:51443800-51449000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:51443800-51455600	Weak transcription	Fetal Heart	heart
41	chr12:51443800-51462600	Strong transcription	A549	lung
42	chr12:51444000-51449600	Weak transcription	HUVEC	blood vessel
43	chr12:51444200-51447200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:51444200-51448200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:51444200-51452400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:51444200-51454800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:51444200-51463200	Strong transcription	Placenta	Placenta
48	chr12:51444200-51465000	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:51444200-51465400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:51444200-51465600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links