Variant report

Variant	rs12115094
Chromosome Location	chr8:55054904-55054905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55047537..55049250-chr8:55053589..55055198,2	MCF-7	breast:
2	chr8:55054461..55056244-chr8:55065742..55067403,2	K562	blood:
3	chr8:55054490..55056244-chr8:55064883..55067242,2	K562	blood:
4	chr8:55047433..55051176-chr8:55051187..55056877,7	K562	blood:
5	chr8:55053583..55055531-chr8:55058324..55060040,2	K562	blood:

Variant related genes	Relation type
ENSG00000251835	Chromatin interaction
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1044604	0.87[EUR][1000 genomes]
rs1112697	1.00[EUR][1000 genomes]
rs1112698	1.00[EUR][1000 genomes]
rs11986605	1.00[EUR][1000 genomes]
rs11988830	0.87[EUR][1000 genomes]
rs11988859	0.87[EUR][1000 genomes]
rs11994366	0.87[EUR][1000 genomes]
rs11998000	1.00[EUR][1000 genomes]
rs16919750	0.87[EUR][1000 genomes]
rs16919924	0.87[EUR][1000 genomes]
rs28369337	0.87[EUR][1000 genomes]
rs28397021	0.87[EUR][1000 genomes]
rs28533970	0.87[EUR][1000 genomes]
rs55704212	1.00[EUR][1000 genomes]
rs55781183	0.87[EUR][1000 genomes]
rs55864901	1.00[EUR][1000 genomes]
rs56087054	1.00[EUR][1000 genomes]
rs58515879	1.00[EUR][1000 genomes]
rs59087284	1.00[EUR][1000 genomes]
rs59114404	1.00[EUR][1000 genomes]
rs59270026	1.00[EUR][1000 genomes]
rs59277432	1.00[EUR][1000 genomes]
rs60186893	0.94[EUR][1000 genomes]
rs60672236	0.80[EUR][1000 genomes]
rs6473905	0.87[EUR][1000 genomes]
rs6473906	0.87[EUR][1000 genomes]
rs6473907	0.87[EUR][1000 genomes]
rs6473908	0.87[EUR][1000 genomes]
rs6473910	1.00[EUR][1000 genomes]
rs6981386	1.00[EUR][1000 genomes]
rs6992073	1.00[EUR][1000 genomes]
rs7001391	1.00[EUR][1000 genomes]
rs7003793	0.87[EUR][1000 genomes]
rs7005653	0.87[EUR][1000 genomes]
rs7007031	0.87[EUR][1000 genomes]
rs7008593	0.87[EUR][1000 genomes]
rs7011032	1.00[EUR][1000 genomes]
rs7016108	0.87[EUR][1000 genomes]
rs73679602	0.87[EUR][1000 genomes]
rs73681304	0.87[EUR][1000 genomes]
rs73681305	0.87[EUR][1000 genomes]
rs73681307	1.00[EUR][1000 genomes]
rs73681308	1.00[EUR][1000 genomes]
rs73681309	1.00[EUR][1000 genomes]
rs7815998	1.00[EUR][1000 genomes]
rs7822750	0.87[EUR][1000 genomes]
rs7833336	1.00[EUR][1000 genomes]
rs7836760	1.00[EUR][1000 genomes]
rs7839276	1.00[EUR][1000 genomes]
rs7844291	1.00[EUR][1000 genomes]
rs7844299	0.87[EUR][1000 genomes]
rs9918912	1.00[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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55048200-55055400	Weak transcription	Spleen	Spleen
2	chr8:55048400-55055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:55048400-55055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:55048400-55055600	Weak transcription	Gastric	stomach
5	chr8:55048400-55056200	Weak transcription	Small Intestine	intestine
6	chr8:55048600-55055200	Weak transcription	Brain Substantia Nigra	brain
7	chr8:55048600-55055400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:55048600-55055400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:55048600-55055400	Weak transcription	Colonic Mucosa	Colon
10	chr8:55048600-55056000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:55048600-55056200	Weak transcription	Aorta	Aorta
12	chr8:55048600-55065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:55048600-55066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:55048800-55056200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:55048800-55063200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:55049000-55055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:55049000-55055600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:55049000-55056000	Weak transcription	Brain Angular Gyrus	brain
19	chr8:55049000-55056000	Weak transcription	Stomach Mucosa	stomach
20	chr8:55049000-55057600	Weak transcription	Psoas Muscle	Psoas
21	chr8:55049000-55061800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:55049000-55062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:55049000-55065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:55049200-55055200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:55049200-55055200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:55049200-55055400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:55049200-55055400	Weak transcription	Right Ventricle	heart
28	chr8:55049200-55055600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:55049200-55055800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:55049200-55056200	Weak transcription	Fetal Brain Male	brain
31	chr8:55049200-55056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:55049200-55061600	Strong transcription	Osteobl	bone
33	chr8:55049200-55063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:55049200-55063800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:55049200-55064000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:55049200-55064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:55049200-55064000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:55049200-55064000	Strong transcription	Fetal Intestine Large	intestine
39	chr8:55049200-55064200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr8:55049200-55064600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:55049400-55061600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:55049400-55063600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:55049400-55063800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:55049400-55064000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:55049400-55064000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:55049400-55064000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:55049400-55064600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:55049600-55062000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:55049600-55064000	Strong transcription	Adipose Nuclei	Adipose
50	chr8:55049800-55063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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