Variant report

Variant	rs10774571
Chromosome Location	chr12:121286136-121286137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:121285326-121286277	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:121285252-121286178	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121284720..121286332-chr12:121290544..121292082,2	K562	blood:
2	chr12:121280705..121284627-chr12:121285918..121289462,3	K562	blood:
3	chr12:121259584..121261305-chr12:121284288..121286336,2	K562	blood:

Variant related genes	Relation type
ARF1P2	TF binding region
ENSG00000213137	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10160872	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1027556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs10431387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10459142	0.81[ASN][1000 genomes]
rs10744754	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10774568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10774569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774570	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10774573	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774575	0.81[ASN][1000 genomes]
rs10774576	0.81[ASN][1000 genomes]
rs10849782	0.91[AMR][1000 genomes]
rs10849786	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs10849787	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849790	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10849793	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10849794	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10849800	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849803	0.88[EUR][1000 genomes]
rs10849805	0.88[CEU][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849806	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849812	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10849813	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849814	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11065259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065272	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11065298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065313	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065319	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065320	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065321	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1151849	0.86[YRI][hapmap]
rs1151862	0.85[YRI][hapmap]
rs11829904	0.83[YRI][hapmap]
rs11833706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12310161	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12423697	0.85[EUR][1000 genomes]
rs13746	0.83[YRI][hapmap]
rs2049211	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2393725	0.80[AMR][1000 genomes]
rs3213568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3213569	1.00[CEU][hapmap]
rs3213571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3809314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471688	0.87[YRI][hapmap]
rs531782	0.93[YRI][hapmap]
rs56137011	0.85[EUR][1000 genomes]
rs56161401	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs610694	0.86[YRI][hapmap]
rs624216	0.85[YRI][hapmap]
rs625228	0.93[YRI][hapmap]
rs6489780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6489781	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6489782	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7131886	0.86[EUR][1000 genomes]
rs7135147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7135426	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7139145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs715319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7300695	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7315439	0.89[ASN][1000 genomes]
rs7316450	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73229114	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73229156	0.91[EUR][1000 genomes]
rs7954254	0.87[EUR][1000 genomes]
rs7960784	0.82[ASN][1000 genomes]
rs7965332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977343	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121269800-121291400	Weak transcription	Fetal Intestine Large	intestine
2	chr12:121274000-121287200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:121274200-121291800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:121274400-121289400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:121274600-121289000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:121274600-121289800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:121274800-121291800	Weak transcription	Dnd41	blood
8	chr12:121277600-121287200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:121279200-121289200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:121279400-121286400	Enhancers	Brain Substantia Nigra	brain
11	chr12:121279600-121286600	Enhancers	Brain Hippocampus Middle	brain
12	chr12:121280800-121287400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:121281600-121296200	Weak transcription	HepG2	liver
14	chr12:121282000-121286400	Enhancers	Right Ventricle	heart
15	chr12:121282000-121308600	Weak transcription	Fetal Kidney	kidney
16	chr12:121282400-121286200	Weak transcription	HMEC	breast
17	chr12:121282600-121288400	Enhancers	Psoas Muscle	Psoas
18	chr12:121283000-121287600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:121283000-121287600	Weak transcription	NHLF	lung
20	chr12:121283200-121287600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:121283200-121288600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:121283200-121289200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:121283200-121291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
25	chr12:121283400-121289400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:121283400-121289400	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:121283400-121291800	Weak transcription	Pancreas	Pancrea
28	chr12:121283400-121307400	Weak transcription	Esophagus	oesophagus
29	chr12:121283600-121287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:121283600-121290800	Weak transcription	Gastric	stomach
31	chr12:121283600-121295600	Weak transcription	Fetal Stomach	stomach
32	chr12:121283600-121302200	Weak transcription	Lung	lung
33	chr12:121284000-121286400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:121284000-121287800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:121284000-121289200	Weak transcription	Thymus	Thymus
36	chr12:121284000-121294400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:121284200-121286200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:121284200-121286200	Enhancers	Adipose Nuclei	Adipose
39	chr12:121284600-121286200	Enhancers	Small Intestine	intestine
40	chr12:121284600-121286400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:121284600-121286400	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:121284600-121286400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr12:121284600-121286400	Enhancers	Stomach Mucosa	stomach
44	chr12:121284600-121286800	Enhancers	Primary T cells from cord blood	blood
45	chr12:121284600-121292800	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:121284800-121287400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:121284800-121287400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:121284800-121287400	Enhancers	NHEK	skin
49	chr12:121284800-121287600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:121285000-121287200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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