Variant report

Variant	rs7969699
Chromosome Location	chr12:29364774-29364775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10431273	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843341	0.91[EUR][1000 genomes]
rs11050080	0.85[EUR][1000 genomes]
rs11050082	0.89[EUR][1000 genomes]
rs11050085	0.89[EUR][1000 genomes]
rs11050094	0.87[EUR][1000 genomes]
rs11050097	0.89[EUR][1000 genomes]
rs11050105	0.91[CEU][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes]
rs11050116	0.85[CEU][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11050119	0.87[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11050120	0.84[YRI][hapmap]
rs11050122	0.87[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12578244	0.88[EUR][1000 genomes]
rs12821923	0.82[YRI][hapmap]
rs16934002	0.84[YRI][hapmap]
rs73073792	0.92[EUR][1000 genomes]
rs7307501	0.87[EUR][1000 genomes]
rs7308340	0.89[EUR][1000 genomes]
rs7316695	0.87[CEU][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes]
rs7954686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924108	0.83[AFR][1000 genomes];0.93[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29359200-29366400	Enhancers	Fetal Intestine Large	intestine
2	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
3	chr12:29361800-29365400	Weak transcription	Colonic Mucosa	Colon
4	chr12:29362000-29368800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:29362600-29365200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:29362600-29369800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:29362800-29364800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:29363600-29369000	Weak transcription	Dnd41	blood
9	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:29364000-29365200	Weak transcription	Fetal Intestine Small	intestine
11	chr12:29364000-29365200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:29364200-29365600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:29364200-29365600	Enhancers	Small Intestine	intestine
14	chr12:29364200-29366000	Enhancers	Adipose Nuclei	Adipose
15	chr12:29364400-29365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:29364400-29366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:29364600-29365400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:29364600-29365600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:29364600-29365800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:29364600-29365800	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:29364600-29366000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:29364600-29366400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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