Variant report

Variant	rs7967137
Chromosome Location	chr12:1870525-1870526
allele	C/T
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	CTCF	chr12:1870380-1870530	GM12865	blood:	n/a	n/a
2	CTCF	chr12:1870400-1870550	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1805184..1807328-chr12:1869608..1872383,2	K562	blood:

Variant related genes	Relation type
RPS4XP14	TF binding region
ENSG00000271500	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10735000	0.81[EUR][1000 genomes]
rs10744549	0.81[EUR][1000 genomes]
rs10744550	0.84[EUR][1000 genomes]
rs10773987	0.81[EUR][1000 genomes]
rs10848568	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs12296831	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468491	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928751	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058112	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286380	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35854772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766414	0.81[EUR][1000 genomes]
rs57414925	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60523400	0.81[EUR][1000 genomes]
rs66673051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67365540	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67405160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67567175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132184	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040763	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73041873	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7316374	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488369	0.85[CEU][hapmap]
rs767870	0.84[CEU][hapmap]
rs7975375	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs9805042	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs9805109	0.94[EUR][1000 genomes]
rs9888418	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
4	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv832306	chr12:1847726-2001308	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
6	nsv1038425	chr12:1857052-1902302	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1826000-1885400	Weak transcription	NH-A	brain
3	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
5	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
6	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
8	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
9	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
10	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
14	chr12:1862600-1874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:1863000-1882000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:1863400-1871400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:1863400-1871400	Strong transcription	GM12878-XiMat	blood
18	chr12:1863400-1871400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:1863400-1872600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:1864800-1879800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:1864800-1882200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:1864800-1885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:1865000-1885200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:1865800-1871400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:1866000-1871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:1866800-1871000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:1866800-1875000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:1866800-1883000	Weak transcription	Fetal Heart	heart
29	chr12:1867000-1871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:1867000-1882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:1867000-1882000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:1867000-1890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:1867200-1871000	Weak transcription	Liver	Liver
34	chr12:1867200-1871400	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:1867200-1872200	Enhancers	Brain Hippocampus Middle	brain
36	chr12:1867200-1878000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:1867200-1878400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:1867200-1878600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:1867200-1878800	Weak transcription	Fetal Intestine Small	intestine
40	chr12:1867200-1878800	Weak transcription	Lung	lung
41	chr12:1867200-1879200	Weak transcription	Gastric	stomach
42	chr12:1867200-1879200	Weak transcription	Left Ventricle	heart
43	chr12:1867200-1880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:1867200-1880200	Weak transcription	Esophagus	oesophagus
45	chr12:1867200-1880200	Weak transcription	Fetal Stomach	stomach
46	chr12:1867200-1880400	Weak transcription	Fetal Intestine Large	intestine
47	chr12:1867200-1882000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:1867200-1882000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:1867200-1882000	Weak transcription	Thymus	Thymus
50	chr12:1867200-1883000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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