Variant report

Variant	rs10843334
Chromosome Location	chr12:29307933-29307934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29305381..29308079-chr12:29313278..29315521,2	K562	blood:
2	chr12:29300317..29304551-chr12:29306298..29309570,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064763	Chromatin interaction
ENSG00000257258	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10843330	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843331	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843332	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843336	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843338	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050035	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11050039	0.89[EUR][1000 genomes]
rs11050040	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11050046	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11050076	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11050077	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11050078	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11050095	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050096	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050103	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050113	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050125	0.81[EUR][1000 genomes]
rs11050129	0.81[EUR][1000 genomes]
rs12049941	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12228075	0.89[EUR][1000 genomes]
rs12306316	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12581588	0.81[EUR][1000 genomes]
rs1390536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390537	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496214	0.82[AFR][1000 genomes]
rs1587186	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34844277	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73071989	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7309466	0.83[EUR][1000 genomes];0.82[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29303200-29308200	Weak transcription	Left Ventricle	heart
2	chr12:29303200-29309800	Weak transcription	NHDF-Ad	bronchial
3	chr12:29303400-29308000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:29303400-29308200	Weak transcription	Right Ventricle	heart
5	chr12:29303400-29309000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:29303400-29309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29303400-29311400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:29303400-29312200	Weak transcription	Spleen	Spleen
9	chr12:29303400-29316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:29303400-29317000	Weak transcription	Colonic Mucosa	Colon
11	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
12	chr12:29303600-29308000	Weak transcription	NH-A	brain
13	chr12:29303600-29308800	Enhancers	Dnd41	blood
14	chr12:29303600-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:29303800-29310200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:29304000-29312600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:29304200-29308000	Weak transcription	K562	blood
18	chr12:29304400-29308800	Enhancers	Primary B cells from cord blood	blood
19	chr12:29306000-29312400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:29306400-29310400	Weak transcription	Right Atrium	heart
21	chr12:29306400-29313000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:29306400-29313200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:29306600-29308000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:29306600-29308000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:29306600-29308200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:29306600-29308200	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:29306600-29308600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:29306600-29310400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:29306600-29310600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:29306600-29312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:29306600-29312600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:29306600-29313000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:29306800-29308000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:29306800-29308000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:29306800-29308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:29306800-29308000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:29306800-29308000	Weak transcription	Small Intestine	intestine
39	chr12:29306800-29308000	Weak transcription	HUVEC	blood vessel
40	chr12:29306800-29308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:29306800-29308200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:29306800-29310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:29306800-29313200	Weak transcription	Fetal Thymus	thymus
44	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:29307000-29308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:29307000-29308000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:29307000-29308000	Weak transcription	Brain Anterior Caudate	brain
48	chr12:29307000-29308000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:29307000-29308200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:29307000-29308200	Weak transcription	Brain Hippocampus Middle	brain

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