Variant report

Variant	rs1797400
Chromosome Location	chr12:66584162-66584163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66575489..66578360-chr12:66583089..66585352,2	K562	blood:
2	chr12:66583600..66585977-chr12:66589320..66590902,2	MCF-7	breast:
3	chr12:66578489..66581069-chr12:66583580..66586870,3	K562	blood:
4	chr12:66570661..66572865-chr12:66583805..66585652,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1058981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176027	1.00[EUR][1000 genomes]
rs1152884	0.84[AFR][1000 genomes]
rs1152905	1.00[EUR][1000 genomes]
rs1152910	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168756	1.00[AMR][1000 genomes]
rs1168758	0.95[AFR][1000 genomes]
rs1168764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1168772	0.95[AFR][1000 genomes]
rs1168773	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1179916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1617632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102069	1.00[EUR][1000 genomes]
rs17102109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102115	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1732875	0.96[AFR][1000 genomes]
rs1797401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1946750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6581665	1.00[EUR][1000 genomes]
rs7307987	1.00[EUR][1000 genomes]
rs7487759	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active 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	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66582400-66584200	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:66582400-66584600	Active TSS	NHDF-Ad	bronchial
3	chr12:66582400-66585400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:66582400-66586000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:66582600-66584400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:66582600-66584400	Active TSS	Fetal Lung	lung
7	chr12:66582600-66584400	Flanking Active TSS	HUVEC	blood vessel
8	chr12:66582600-66584400	Active TSS	NHLF	lung
9	chr12:66582800-66584200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:66582800-66584200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:66582800-66584400	Active TSS	Primary T cells from cord blood	blood
12	chr12:66582800-66584800	Active TSS	Right Atrium	heart
13	chr12:66583000-66584200	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:66583000-66584400	Active TSS	Fetal Muscle Leg	muscle
15	chr12:66583000-66584600	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr12:66583000-66584600	Active TSS	Brain Hippocampus Middle	brain
17	chr12:66583000-66584600	Active TSS	Stomach Smooth Muscle	stomach
18	chr12:66583000-66584600	Active TSS	GM12878-XiMat	blood
19	chr12:66583200-66584200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:66583200-66584400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:66583200-66584600	Active TSS	Brain Anterior Caudate	brain
22	chr12:66583200-66584800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr12:66583200-66584800	Active TSS	Right Ventricle	heart
24	chr12:66583400-66584600	Active TSS	Psoas Muscle	Psoas
25	chr12:66583400-66585000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr12:66583400-66585200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:66583400-66585600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:66583400-66586000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr12:66583600-66584400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
30	chr12:66583600-66584600	Weak transcription	Gastric	stomach
31	chr12:66583600-66584600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:66583600-66584800	Weak transcription	Lung	lung
33	chr12:66583600-66584800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:66583600-66585000	Weak transcription	Pancreas	Pancrea
35	chr12:66583600-66585200	Weak transcription	Spleen	Spleen
36	chr12:66583600-66585400	Weak transcription	Esophagus	oesophagus
37	chr12:66583600-66585400	Weak transcription	Ovary	ovary
38	chr12:66583600-66585600	Enhancers	Brain Germinal Matrix	brain
39	chr12:66583600-66585800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr12:66583600-66589000	Weak transcription	Brain Substantia Nigra	brain
41	chr12:66583600-66589000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:66583600-66591400	Weak transcription	Osteobl	bone
43	chr12:66583800-66584200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:66583800-66584200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:66583800-66584800	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:66583800-66584800	Weak transcription	Left Ventricle	heart
47	chr12:66583800-66589000	Weak transcription	Placenta	Placenta
48	chr12:66583800-66593000	Weak transcription	Aorta	Aorta
49	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:66584000-66584200	Active TSS	Primary neutrophils fromperipheralblood	blood

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