Variant report

Variant	rs34844277
Chromosome Location	chr12:29306301-29306302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr12:29306226-29306700	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr12:29306293-29306595	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr12:29306190-29306478	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:29306180-29306330	GM06990	blood:	n/a	n/a
5	CTCF	chr12:29306220-29306370	NB4	blood:	n/a	n/a
6	ZNF263	chr12:29306205-29307000	HEK293-T-REx	kidney:	n/a	chr12:29306651-29306672
7	CTCF	chr12:29306300-29306450	BE2_C	brain:	n/a	n/a
8	MYC	chr12:29306146-29306454	NB4	blood:	n/a	n/a
9	POLR2A	chr12:29306252-29306516	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:29306300-29306450	Caco-2	colon:	n/a	n/a
11	CTCF	chr12:29306280-29306430	BE2_C	brain:	n/a	n/a
12	POLR2A	chr12:29306287-29306457	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:29306300-29306507	GM19239	blood:	n/a	n/a
14	CTCF	chr12:29306284-29306509	GM19238	blood:	n/a	n/a

No data

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

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:

No data

Variant related genes	Relation type
ENSG00000257258	TF binding region
ENSG00000257258	Chromatin interaction
ENSG00000064763	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10843330	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843331	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843332	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843334	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843336	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843338	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050035	0.88[EUR][1000 genomes]
rs11050039	0.88[EUR][1000 genomes]
rs11050040	0.88[EUR][1000 genomes]
rs11050046	0.91[EUR][1000 genomes]
rs11050076	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11050077	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11050078	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11050095	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050096	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050103	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11050113	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050125	0.80[EUR][1000 genomes]
rs11050129	0.80[EUR][1000 genomes]
rs12049941	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12228075	0.88[EUR][1000 genomes]
rs12306316	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12581588	0.80[EUR][1000 genomes]
rs1390536	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1390537	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1587186	0.91[EUR][1000 genomes]
rs73071989	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7309466	0.82[EUR][1000 genomes];0.81[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29302600-29306800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:29303200-29307600	Weak transcription	Placenta	Placenta
3	chr12:29303200-29308200	Weak transcription	Left Ventricle	heart
4	chr12:29303200-29309800	Weak transcription	NHDF-Ad	bronchial
5	chr12:29303400-29306400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:29303400-29306800	Enhancers	Small Intestine	intestine
7	chr12:29303400-29307000	Enhancers	Fetal Intestine Large	intestine
8	chr12:29303400-29308000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:29303400-29308200	Weak transcription	Right Ventricle	heart
10	chr12:29303400-29309000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:29303400-29309800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:29303400-29311400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:29303400-29312200	Weak transcription	Spleen	Spleen
14	chr12:29303400-29316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:29303400-29317000	Weak transcription	Colonic Mucosa	Colon
16	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
17	chr12:29303600-29308000	Weak transcription	NH-A	brain
18	chr12:29303600-29308800	Enhancers	Dnd41	blood
19	chr12:29303600-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:29303800-29310200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:29304000-29312600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:29304200-29307000	Enhancers	Fetal Intestine Small	intestine
23	chr12:29304200-29308000	Weak transcription	K562	blood
24	chr12:29304400-29308800	Enhancers	Primary B cells from cord blood	blood
25	chr12:29304600-29306600	Enhancers	GM12878-XiMat	blood
26	chr12:29304600-29306800	Enhancers	Primary T cells from cord blood	blood
27	chr12:29304800-29306400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:29304800-29306600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:29304800-29306600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr12:29304800-29307000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:29305200-29306400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:29305200-29306600	Enhancers	Adipose Nuclei	Adipose
33	chr12:29305200-29306800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:29305200-29306800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:29305200-29307000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:29305400-29306400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:29305400-29306400	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:29305400-29306400	Enhancers	Brain Hippocampus Middle	brain
39	chr12:29305400-29306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:29305400-29306600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:29305400-29306600	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:29305400-29306600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:29305400-29306600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr12:29305400-29306800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:29305400-29306800	Enhancers	Colon Smooth Muscle	Colon
46	chr12:29305400-29307000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:29305400-29307000	Enhancers	Brain Angular Gyrus	brain
48	chr12:29305400-29307000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:29305400-29307200	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:29305600-29306800	Enhancers	HUES64 Cell Line	embryonic stem cell

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