Variant report

Variant	rs10849814
Chromosome Location	chr12:121339975-121339976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121338472..121340356-chr12:121340571..121343275,2	MCF-7	breast:
2	chr12:121331922..121335800-chr12:121336708..121340188,4	K562	blood:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10160872	0.94[EUR][1000 genomes]
rs1027556	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1039302	0.82[GIH][hapmap]
rs10431373	0.90[ASN][1000 genomes]
rs10431387	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.87[EUR][1000 genomes]
rs10437837	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10437838	1.00[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap]
rs10774569	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10774570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774571	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10774573	0.94[EUR][1000 genomes]
rs10849783	0.83[AMR][1000 genomes]
rs10849785	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap]
rs10849788	1.00[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap]
rs10849789	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs10849792	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs10849794	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10849795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10849796	0.84[ASN][1000 genomes]
rs10849798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10849799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10849800	0.85[EUR][1000 genomes]
rs10849803	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849805	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs10849806	0.91[EUR][1000 genomes]
rs10849808	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.90[ASN][1000 genomes]
rs10849809	0.90[ASN][1000 genomes]
rs10849810	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10849811	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10849812	0.93[EUR][1000 genomes]
rs10849813	0.94[EUR][1000 genomes]
rs10849817	0.98[ASN][1000 genomes]
rs11065240	0.82[JPT][hapmap]
rs11065242	0.82[JPT][hapmap]
rs11065262	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11065266	0.83[AMR][1000 genomes]
rs11065271	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11065276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11065298	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11065313	0.93[EUR][1000 genomes]
rs11065319	0.94[EUR][1000 genomes]
rs11065320	0.94[EUR][1000 genomes]
rs11065321	0.94[EUR][1000 genomes]
rs11065322	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.94[EUR][1000 genomes]
rs11065331	0.93[ASN][1000 genomes]
rs11833706	1.00[CEU][hapmap]
rs12302189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12310161	0.88[EUR][1000 genomes]
rs12423697	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2049211	0.91[EUR][1000 genomes]
rs2229534	0.81[JPT][hapmap]
rs2393718	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3213568	1.00[CEU][hapmap];0.89[GIH][hapmap]
rs3213569	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes]
rs3213571	1.00[CEU][hapmap]
rs3809314	1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];0.94[EUR][1000 genomes]
rs56137011	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56161401	0.94[EUR][1000 genomes]
rs6489780	1.00[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap]
rs7131886	0.88[EUR][1000 genomes]
rs7135147	0.82[GIH][hapmap]
rs7139145	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs715319	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes]
rs7298639	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7306083	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316450	0.91[EUR][1000 genomes]
rs73224325	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73229135	0.81[ASN][1000 genomes]
rs73229156	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7954254	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7965332	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7977343	0.89[CEU][hapmap];0.84[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	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
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv975642	chr12:121330910-121340230	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121294200-121340400	Weak transcription	HSMM	muscle
2	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:121323200-121340000	Weak transcription	Fetal Lung	lung
4	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
5	chr12:121324000-121340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:121326600-121340200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:121329000-121340000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:121329000-121340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:121329000-121340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:121329200-121340000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:121330200-121340200	Weak transcription	HUVEC	blood vessel
12	chr12:121331400-121340200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:121332000-121340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:121332000-121340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:121332400-121340600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:121332800-121340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:121333200-121340400	Weak transcription	Gastric	stomach
18	chr12:121334800-121340200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:121335800-121340400	Weak transcription	NH-A	brain
20	chr12:121336800-121340200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:121338000-121340600	Enhancers	Small Intestine	intestine
22	chr12:121338200-121340400	Weak transcription	Placenta	Placenta
23	chr12:121338200-121340600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:121338400-121340200	Weak transcription	Colonic Mucosa	Colon
25	chr12:121338400-121340400	Weak transcription	Esophagus	oesophagus
26	chr12:121338400-121340400	Weak transcription	Lung	lung
27	chr12:121338400-121340600	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:121338600-121340400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:121338600-121340400	Weak transcription	Thymus	Thymus
30	chr12:121338800-121340200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr12:121338800-121340600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:121339000-121340200	Enhancers	Primary B cells from cord blood	blood
33	chr12:121339000-121340200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:121339200-121340000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr12:121339200-121340200	Enhancers	Fetal Intestine Small	intestine
36	chr12:121339200-121340200	Weak transcription	Fetal Stomach	stomach
37	chr12:121339400-121340000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:121339400-121340000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr12:121339400-121340200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:121339400-121340400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:121339400-121340600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:121339400-121340600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:121339400-121340600	Flanking Active TSS	GM12878-XiMat	blood
44	chr12:121339400-121341200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:121339600-121340000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr12:121339600-121340000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:121339600-121340000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr12:121339600-121340000	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr12:121339600-121340000	Active TSS	Hela-S3	cervix
50	chr12:121339600-121340000	Flanking Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links