Variant report

Variant	rs11776547
Chromosome Location	chr8:103899282-103899283
allele	A/G
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	chr8:103899018-103899619	GM12878	blood:	n/a	n/a
2	SPI1	chr8:103899236-103899580	GM12891	blood:	n/a	n/a
3	IKZF1	chr8:103898939-103899716	GM12878	blood:	n/a	n/a
4	EP300	chr8:103899138-103899547	GM12878	blood:	n/a	chr8:103899518-103899532
5	SP1	chr8:103899104-103899618	GM12878	blood:	n/a	n/a
6	TCF12	chr8:103899081-103899561	GM12878	blood:	n/a	n/a
7	MAX	chr8:103899121-103899569	H1-hESC	embryonic stem cell:	n/a	chr8:103899427-103899437 chr8:103899347-103899357
8	BATF	chr8:103899123-103899620	GM12878	blood:	n/a	n/a
9	RUNX3	chr8:103898891-103899646	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:103898873-103899818	HL-60	blood:	n/a	n/a
11	POLR2A	chr8:103899006-103899580	GM12892	blood:	n/a	n/a
12	PAX5	chr8:103898993-103899670	GM12878	blood:	n/a	chr8:103899304-103899323 chr8:103899378-103899387
13	SIN3A	chr8:103899069-103899564	GM12878	blood:	n/a	n/a
14	EBF1	chr8:103899142-103899517	GM12878	blood:	n/a	n/a
15	POU2F2	chr8:103898957-103899660	GM12878	blood:	n/a	n/a
16	TCF3	chr8:103899141-103899590	GM12878	blood:	n/a	n/a
17	NRF1	chr8:103899176-103899532	GM12878	blood:	n/a	n/a
18	MAX	chr8:103899237-103899537	H1-hESC	embryonic stem cell:	n/a	chr8:103899427-103899437 chr8:103899347-103899357
19	RELA	chr8:103899090-103899650	GM15510	blood:	n/a	n/a
20	POLR2A	chr8:103898934-103899670	GM12892	blood:	n/a	n/a
21	POU2F2	chr8:103899093-103899510	GM12878	blood:	n/a	n/a
22	YY1	chr8:103899050-103899623	GM12878	blood:	n/a	n/a
23	TAF1	chr8:103899194-103899375	GM12878	blood:	n/a	n/a
24	EBF1	chr8:103898954-103899609	GM12878	blood:	n/a	n/a
25	YY1	chr8:103898973-103899647	GM12878	blood:	n/a	n/a
26	USF2	chr8:103899079-103899508	GM12878	blood:	n/a	chr8:103899334-103899350
27	POLR2A	chr8:103899041-103899744	HL-60	blood:	n/a	n/a
28	BCLAF1	chr8:103898957-103899608	GM12878	blood:	n/a	n/a
29	CTCF	chr8:103899244-103899442	GM12878	blood:	n/a	n/a
30	MAZ	chr8:103899186-103899642	GM12878	blood:	n/a	chr8:103899427-103899437
31	POU2F2	chr8:103898984-103899555	GM12891	blood:	n/a	n/a
32	EP300	chr8:103899076-103899618	GM12878	blood:	n/a	chr8:103899518-103899532
33	RELA	chr8:103899161-103899604	GM19193	blood:	n/a	n/a
34	CHD1	chr8:103898980-103899683	GM12878	blood:	n/a	n/a
35	FOXM1	chr8:103899023-103899704	GM12878	blood:	n/a	n/a
36	POU2F2	chr8:103899140-103899555	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:103899023-103899594	GM12878	blood:	n/a	n/a
38	PML	chr8:103898885-103899848	GM12878	blood:	n/a	chr8:103899314-103899323
39	POLR2A	chr8:103898910-103899693	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:103899060-103899593	GM12891	blood:	n/a	n/a
41	POLR2A	chr8:103898982-103899651	GM12891	blood:	n/a	n/a
42	MAX	chr8:103899172-103899481	K562	blood:	n/a	chr8:103899427-103899437 chr8:103899347-103899357
43	YY1	chr8:103898991-103899571	GM12892	blood:	n/a	n/a
44	CHD2	chr8:103899040-103899614	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:103898910-103899626	GM12891	blood:	n/a	n/a
46	EBF1	chr8:103899015-103899645	GM12878	blood:	n/a	n/a
47	RELA	chr8:103899069-103899665	GM10847	blood:	n/a	n/a
48	PAX5	chr8:103899072-103899547	GM12878	blood:	n/a	chr8:103899304-103899323 chr8:103899378-103899387
49	MEF2A	chr8:103899115-103899627	GM12878	blood:	n/a	n/a
50	EP300	chr8:103899145-103899697	GM12878	blood:	n/a	chr8:103899518-103899532

No.	Distal block	Cell Line	Cell type
1	chr8:103889506..103892045-chr8:103897446..103899606,2	MCF-7	breast:
2	chr8:103875263..103877983-chr8:103897539..103900721,6	MCF-7	breast:
3	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLF10-1	chr8:103895319-103899375	XLOC_007173
2	lnc-KB-1507C5.2.1-4	chr8:103897360-103901038	NONHSAT128118
3	lnc-KLF10-1	chr8:103899146-103899375	NONHSAT128116

Variant related genes	Relation type
ENSG00000253263	TF binding region
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10104995	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955294	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993347	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1806300	0.90[AFR][1000 genomes]
rs2458280	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2513875	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2570947	0.82[AFR][1000 genomes]
rs2570949	0.97[EUR][1000 genomes]
rs2570950	0.82[AFR][1000 genomes]
rs28594922	0.81[ASN][1000 genomes]
rs2916561	0.82[AFR][1000 genomes]
rs35656046	0.90[AFR][1000 genomes]
rs548488	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs581610	0.87[AFR][1000 genomes]
rs601088	0.90[AFR][1000 genomes]
rs642004	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs665298	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs678839	0.81[EUR][1000 genomes];0.81[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103906800	Weak transcription	Gastric	stomach
2	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
4	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:103878200-103906600	Weak transcription	Ovary	ovary
7	chr8:103878800-103899800	Weak transcription	Esophagus	oesophagus
8	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:103882800-103906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:103884400-103900600	Weak transcription	Aorta	Aorta
11	chr8:103889800-103906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:103889800-103906400	Weak transcription	Brain Substantia Nigra	brain
13	chr8:103890000-103906400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:103890000-103906600	Weak transcription	Brain Anterior Caudate	brain
15	chr8:103890000-103906600	Weak transcription	Right Ventricle	heart
16	chr8:103890200-103900400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:103890200-103906400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:103891000-103906600	Weak transcription	Liver	Liver
19	chr8:103891800-103907200	Weak transcription	Brain Germinal Matrix	brain
20	chr8:103893200-103902200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:103893600-103906800	Weak transcription	Left Ventricle	heart
22	chr8:103893600-103906800	Weak transcription	Pancreas	Pancrea
23	chr8:103893800-103900600	Weak transcription	Lung	lung
24	chr8:103894000-103906400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:103894000-103906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:103894200-103906000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:103894200-103906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:103894200-103906600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
30	chr8:103894800-103902200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:103895800-103901000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:103896000-103906200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:103896000-103906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:103896400-103911200	Weak transcription	Primary T cells from cord blood	blood
35	chr8:103897000-103899600	Strong transcription	Fetal Muscle Leg	muscle
36	chr8:103897600-103906600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:103898000-103902000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:103898200-103899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:103898200-103906600	Weak transcription	Adipose Nuclei	Adipose
40	chr8:103898200-103906800	Weak transcription	Fetal Brain Female	brain
41	chr8:103898200-103906800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:103898400-103900200	Enhancers	Primary B cells from cord blood	blood
43	chr8:103898400-103906200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:103898800-103899800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr8:103898800-103900000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr8:103898800-103900000	Enhancers	Fetal Thymus	thymus
47	chr8:103898800-103900000	Flanking Active TSS	GM12878-XiMat	blood
48	chr8:103899000-103899400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:103899000-103899400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:103899000-103899400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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