Variant report

Variant	rs1044714
Chromosome Location	chr8:124264927-124264928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124253324..124256086-chr8:124261596..124265207,5	K562	blood:
2	chr8:124263337..124266584-chr8:124278018..124281362,4	K562	blood:
3	chr8:124216001..124218067-chr8:124262319..124265189,2	K562	blood:
4	chr8:124261353..124265873-chr8:124284184..124288485,10	K562	blood:
5	chr8:124264164..124266785-chr8:124286974..124288773,2	MCF-7	breast:
6	chr8:124253416..124258902-chr8:124261484..124265207,8	K562	blood:
7	chr8:124260703..124265032-chr8:124283515..124287145,6	K562	blood:
8	chr8:124252182..124253887-chr8:124263050..124265334,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189376	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000238422	Chromatin interaction
ENSG00000259305	Chromatin interaction

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

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

rs_ID	r²[population]
rs11779458	0.90[JPT][hapmap];0.81[MEX][hapmap]
rs11782961	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13248086	0.95[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13271849	0.90[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs16898130	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs6997530	0.81[MEX][hapmap]
rs6997816	0.81[MEX][hapmap]
rs7817153	0.90[JPT][hapmap]
rs7817345	0.90[JPT][hapmap]
rs9693914	0.90[JPT][hapmap]

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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124253600-124266400	Weak transcription	Gastric	stomach
2	chr8:124253600-124284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:124253800-124265800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:124253800-124266600	Weak transcription	Aorta	Aorta
5	chr8:124253800-124266800	Weak transcription	Esophagus	oesophagus
6	chr8:124253800-124267000	Weak transcription	A549	lung
7	chr8:124253800-124267000	Weak transcription	NHDF-Ad	bronchial
8	chr8:124253800-124269800	Weak transcription	Spleen	Spleen
9	chr8:124253800-124275400	Weak transcription	Colonic Mucosa	Colon
10	chr8:124254000-124265200	Weak transcription	Fetal Intestine Large	intestine
11	chr8:124254000-124265600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:124254000-124265600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:124254000-124265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:124254000-124265800	Weak transcription	Primary T cells from cord blood	blood
15	chr8:124254000-124265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:124254000-124265800	Weak transcription	Placenta	Placenta
17	chr8:124254000-124265800	Weak transcription	Fetal Stomach	stomach
18	chr8:124254000-124265800	Weak transcription	Fetal Thymus	thymus
19	chr8:124254000-124265800	Weak transcription	Right Ventricle	heart
20	chr8:124254000-124265800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:124254000-124265800	Weak transcription	NHEK	skin
22	chr8:124254000-124266000	Weak transcription	Primary B cells from cord blood	blood
23	chr8:124254000-124266000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:124254000-124266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:124254000-124266200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:124254000-124266400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:124254000-124266400	Weak transcription	Psoas Muscle	Psoas
28	chr8:124254000-124266400	Weak transcription	NHLF	lung
29	chr8:124254000-124266600	Weak transcription	Pancreas	Pancrea
30	chr8:124254000-124266600	Weak transcription	HepG2	liver
31	chr8:124254000-124266800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:124254000-124266800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:124254000-124266800	Weak transcription	Fetal Brain Male	brain
34	chr8:124254000-124266800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:124254000-124266800	Weak transcription	Thymus	Thymus
36	chr8:124254000-124267000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:124254000-124267200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:124254000-124269400	Weak transcription	Ovary	ovary
39	chr8:124254000-124270000	Weak transcription	Small Intestine	intestine
40	chr8:124254000-124284000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:124254000-124284000	Weak transcription	HSMMtube	muscle
42	chr8:124254200-124266000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:124254600-124267000	Weak transcription	Dnd41	blood
44	chr8:124256400-124269600	Weak transcription	Fetal Intestine Small	intestine
45	chr8:124256600-124266800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:124257800-124265800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:124257800-124266000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:124257800-124269600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:124258400-124265600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:124258600-124266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links