Variant report

Variant	rs34000912
Chromosome Location	chr11:67127124-67127125
allele	A/C
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	POLR2A	chr11:67126456-67127339	U87	brain:	n/a	n/a
2	POLR2A	chr11:67126435-67127345	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:

Variant related genes	Relation type
RN7SKP239	TF binding region
POLD4	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10896166	0.86[ASN][1000 genomes]
rs12791853	0.82[ASN][1000 genomes]
rs12805811	0.83[ASN][1000 genomes]
rs1419861	0.98[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1638569	0.85[ASN][1000 genomes]
rs17878756	0.85[ASN][1000 genomes]
rs17883741	0.85[ASN][1000 genomes]
rs1790731	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1790735	0.91[ASN][1000 genomes]
rs1790737	0.98[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1790738	0.98[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1790739	0.98[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1790762	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1894112	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1944096	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2286619	0.85[ASN][1000 genomes]
rs2298815	0.88[ASN][1000 genomes]
rs2429459	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2429463	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2511057	0.91[ASN][1000 genomes]
rs2514257	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2532605	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2852875	0.86[ASN][1000 genomes]
rs34087937	0.83[ASN][1000 genomes]
rs35176549	0.82[ASN][1000 genomes]
rs35821109	0.85[ASN][1000 genomes]
rs35876769	0.85[ASN][1000 genomes]
rs3737460	0.89[ASN][1000 genomes]
rs4244822	0.89[ASN][1000 genomes]
rs61734600	0.85[ASN][1000 genomes]
rs71457775	0.85[ASN][1000 genomes]
rs7394531	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7934433	0.89[ASN][1000 genomes]
rs867193	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9326373	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9734588	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67121600-67132600	Weak transcription	Fetal Brain Female	brain
2	chr11:67121800-67132800	Weak transcription	Fetal Brain Male	brain
3	chr11:67122600-67128000	Weak transcription	Primary T cells from cord blood	blood
4	chr11:67123400-67131800	Weak transcription	Aorta	Aorta
5	chr11:67125000-67130400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:67125000-67131400	Weak transcription	Lung	lung
7	chr11:67125000-67131800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:67125000-67132000	Weak transcription	Esophagus	oesophagus
9	chr11:67125000-67132000	Weak transcription	Left Ventricle	heart
10	chr11:67125000-67132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:67125000-67132200	Weak transcription	Gastric	stomach
12	chr11:67125000-67132200	Weak transcription	Ovary	ovary
13	chr11:67125000-67132200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:67125000-67132400	Weak transcription	Pancreas	Pancrea
15	chr11:67125000-67133400	Weak transcription	Fetal Kidney	kidney
16	chr11:67125000-67137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:67125200-67131800	Weak transcription	Right Ventricle	heart
18	chr11:67125200-67132000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:67125200-67132200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:67125200-67133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:67125200-67138200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:67125200-67139200	Weak transcription	Small Intestine	intestine
23	chr11:67125600-67131800	Weak transcription	Adipose Nuclei	Adipose
24	chr11:67125600-67133600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:67125600-67136600	Weak transcription	HUVEC	blood vessel
26	chr11:67125800-67129600	Weak transcription	Fetal Intestine Small	intestine
27	chr11:67125800-67131400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:67125800-67131600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:67125800-67131800	Weak transcription	Fetal Intestine Large	intestine
30	chr11:67125800-67132200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:67125800-67133600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:67125800-67133800	Weak transcription	K562	blood
33	chr11:67126000-67129000	Weak transcription	HSMM	muscle
34	chr11:67126000-67130000	Weak transcription	Fetal Lung	lung
35	chr11:67126000-67131400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:67126000-67131400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:67126000-67131400	Weak transcription	Spleen	Spleen
38	chr11:67126000-67131800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:67126000-67131800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:67126000-67132000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:67126000-67132000	Weak transcription	NHEK	skin
42	chr11:67126000-67132200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:67126000-67132200	Weak transcription	NHDF-Ad	bronchial
44	chr11:67126000-67133400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:67126000-67133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:67126000-67133800	Weak transcription	HSMMtube	muscle
47	chr11:67126200-67127200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:67126200-67129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:67126200-67129400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:67126200-67129400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links