Variant report

Variant	rs10849781
Chromosome Location	chr12:121167744-121167745
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
2	chr12:121161440..121165409-chr12:121166157..121170080,9	K562	blood:
3	chr12:121160022..121162940-chr12:121166052..121168172,2	MCF-7	breast:
4	chr12:121166233..121168963-chr12:121173743..121176239,2	K562	blood:
5	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
6	chr12:121162994..121164820-chr12:121167005..121169099,2	MCF-7	breast:
7	chr12:121166701..121168249-chr12:121176996..121179213,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265455	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10431372	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431383	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431384	0.80[CHD][hapmap]
rs10431386	0.82[CHD][hapmap]
rs10774565	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs10849774	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs10849780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065184	0.86[EUR][1000 genomes]
rs11065186	0.86[EUR][1000 genomes]
rs11065188	0.86[EUR][1000 genomes]
rs11065189	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs11065191	0.86[EUR][1000 genomes]
rs11065192	0.86[EUR][1000 genomes]
rs11065193	0.86[EUR][1000 genomes]
rs11065194	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11065195	1.00[EUR][1000 genomes]
rs11065196	1.00[EUR][1000 genomes]
rs11065197	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065198	1.00[EUR][1000 genomes]
rs11065199	1.00[EUR][1000 genomes]
rs11065204	1.00[EUR][1000 genomes]
rs11065205	1.00[EUR][1000 genomes]
rs11065214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065217	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065220	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065229	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065235	1.00[ASW][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065238	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065240	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065241	0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065242	0.81[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065243	0.92[ASN][1000 genomes]
rs11065244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065245	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes]
rs12228187	0.86[EUR][1000 genomes]
rs12229164	1.00[EUR][1000 genomes]
rs12229181	1.00[EUR][1000 genomes]
rs12231101	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12231499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12310160	0.81[CHB][hapmap]
rs17848090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2071266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2229534	1.00[ASW][hapmap];0.80[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239757	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239760	0.80[CHD][hapmap]
rs3751166	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809310	1.00[ASW][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs3809311	0.86[EUR][1000 genomes]
rs7302002	1.00[EUR][1000 genomes]
rs7973568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
2	chr12:121164200-121169800	Weak transcription	NH-A	brain
3	chr12:121164200-121170800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:121164200-121172600	Weak transcription	HSMMtube	muscle
5	chr12:121164200-121176400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121164400-121168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:121164400-121168200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:121164400-121168200	Weak transcription	Gastric	stomach
9	chr12:121164400-121168200	Weak transcription	Osteobl	bone
10	chr12:121164400-121168400	Weak transcription	Fetal Brain Male	brain
11	chr12:121164400-121169000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:121164400-121169800	Weak transcription	HSMM	muscle
13	chr12:121164400-121170400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:121164400-121170400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:121164400-121170600	Weak transcription	NHDF-Ad	bronchial
16	chr12:121164400-121170800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:121164400-121170800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:121164400-121174800	Weak transcription	Esophagus	oesophagus
19	chr12:121164400-121176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:121164400-121176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:121164600-121168000	Weak transcription	Fetal Brain Female	brain
24	chr12:121164600-121168200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:121164600-121168200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:121164600-121168200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:121164600-121168600	Weak transcription	NHEK	skin
28	chr12:121164600-121169000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:121164600-121172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:121164600-121177000	Weak transcription	Small Intestine	intestine
31	chr12:121164600-121177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:121164800-121168200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:121164800-121169000	Strong transcription	Thymus	Thymus
35	chr12:121164800-121169200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:121164800-121169400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:121164800-121169400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:121164800-121169400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:121164800-121169400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:121164800-121169400	Strong transcription	Fetal Stomach	stomach
41	chr12:121164800-121171600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:121164800-121173600	Weak transcription	GM12878-XiMat	blood
43	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:121165000-121169000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:121165000-121169000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:121165000-121169000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:121165000-121169200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:121165000-121169200	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:121165000-121169200	Strong transcription	Placenta	Placenta
50	chr12:121165000-121169200	Strong transcription	Left Ventricle	heart

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