Variant report

Variant	rs11993945
Chromosome Location	chr8:124281117-124281118
allele	G/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	PBX3	chr8:124281109-124281691	SK-N-SH	brain:	n/a	chr8:124281360-124281371
2	POLR2A	chr8:124281001-124281831	PFSK-1	brain:	n/a	n/a
3	GATA3	chr8:124281048-124281732	SK-N-SH	brain:	n/a	chr8:124281326-124281336
4	EP300	chr8:124281049-124281839	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr8:124281117-124281704	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr8:124281022-124281794	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr8:124281089-124281857	SK-N-SH	brain:	n/a	n/a
8	JUND	chr8:124281109-124281781	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124263337..124266584-chr8:124278018..124281362,4	K562	blood:
2	chr8:124268484..124272249-chr8:124280537..124283941,4	K562	blood:
3	chr8:124252240..124256259-chr8:124279136..124282026,3	MCF-7	breast:
4	chr8:124264230..124266419-chr8:124280121..124281703,2	MCF-7	breast:
5	chr8:124274961..124277233-chr8:124279589..124282392,3	K562	blood:
6	chr8:124274901..124276964-chr8:124280690..124283377,3	K562	blood:

Variant related genes	Relation type
ENSG00000238422	TF binding region
ZHX1	TF binding region
ZHX1-C8ORF76	TF binding region
ENSG00000165156	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000222607	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11990795	1.00[MEX][hapmap]
rs16898199	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56799031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57280091	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59211559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989437	1.00[MEX][hapmap]
rs6996427	1.00[MEX][hapmap]
rs73703776	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73703791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73703792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124253600-124284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:124254000-124284000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:124254000-124284000	Weak transcription	HSMMtube	muscle
4	chr8:124266200-124284400	Weak transcription	Stomach Mucosa	stomach
5	chr8:124267800-124283200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:124267800-124285000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:124267800-124285200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:124268200-124281200	Weak transcription	A549	lung
9	chr8:124268200-124281400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:124268200-124284000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:124268200-124284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:124268400-124281200	Weak transcription	NH-A	brain
13	chr8:124268400-124284400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:124268800-124284200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:124270000-124285200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:124270200-124284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:124270200-124284200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:124270200-124284200	Weak transcription	Fetal Kidney	kidney
19	chr8:124270400-124281200	Weak transcription	NHLF	lung
20	chr8:124270400-124284000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:124270600-124281200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:124270600-124281200	Weak transcription	NHDF-Ad	bronchial
23	chr8:124270600-124281400	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:124270600-124281400	Weak transcription	Small Intestine	intestine
25	chr8:124270600-124282000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:124270600-124283200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:124270600-124283200	Weak transcription	Fetal Brain Female	brain
28	chr8:124270600-124283600	Weak transcription	HepG2	liver
29	chr8:124270600-124284000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:124270600-124284000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:124270600-124284000	Weak transcription	Brain Germinal Matrix	brain
32	chr8:124270600-124284000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:124270600-124284000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:124270600-124284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:124270600-124284000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:124270600-124284200	Weak transcription	Brain Substantia Nigra	brain
37	chr8:124270600-124284400	Weak transcription	Primary T cells from cord blood	blood
38	chr8:124270600-124284600	Weak transcription	Aorta	Aorta
39	chr8:124270600-124284800	Weak transcription	Thymus	Thymus
40	chr8:124270600-124285000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:124270600-124285000	Weak transcription	Psoas Muscle	Psoas
42	chr8:124270600-124285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:124270600-124285200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:124270600-124285400	Weak transcription	Lung	lung
45	chr8:124270800-124283200	Weak transcription	Dnd41	blood
46	chr8:124270800-124283600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:124270800-124284000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:124270800-124284000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:124270800-124284000	Weak transcription	Fetal Brain Male	brain
50	chr8:124270800-124284000	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links