Variant report

Variant	rs10011384
Chromosome Location	chr4:166127470-166127471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr4:166127429-166129772	K562	blood:	n/a	n/a
2	TEAD4	chr4:166127450-166127725	K562	blood:	n/a	n/a
3	TAL1	chr4:166127457-166127814	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:
2	chr4:166114045..166117632-chr4:166124756..166128607,4	K562	blood:
3	chr4:166126423..166128941-chr4:166299614..166301287,2	MCF-7	breast:
4	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
5	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:

No data

Variant related genes	Relation type
KLHL2	TF binding region
ENSG00000109472	Chromatin interaction
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10020817	1.00[AFR][1000 genomes]
rs28574662	0.90[AFR][1000 genomes]
rs28742025	0.90[AFR][1000 genomes]
rs9998869	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166121000-166127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:166124800-166127800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:166125200-166127600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:166125200-166127600	Weak transcription	Spleen	Spleen
5	chr4:166125400-166127600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:166125400-166127600	Enhancers	Liver	Liver
7	chr4:166125400-166127600	Weak transcription	Pancreas	Pancrea
8	chr4:166125400-166127800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:166125400-166127800	Weak transcription	Gastric	stomach
10	chr4:166125800-166127600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:166125800-166127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:166125800-166127600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:166125800-166127600	Weak transcription	GM12878-XiMat	blood
14	chr4:166126000-166127600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:166126000-166127600	Weak transcription	Stomach Mucosa	stomach
16	chr4:166126000-166127600	Weak transcription	NHDF-Ad	bronchial
17	chr4:166126000-166128000	Weak transcription	A549	lung
18	chr4:166126200-166127600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:166126200-166127600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:166126200-166127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:166126200-166127600	Weak transcription	Brain Anterior Caudate	brain
22	chr4:166126200-166127600	Weak transcription	Fetal Brain Female	brain
23	chr4:166126200-166127600	Weak transcription	HepG2	liver
24	chr4:166126200-166127600	Weak transcription	NHLF	lung
25	chr4:166126200-166127600	Weak transcription	Osteobl	bone
26	chr4:166126200-166127800	Weak transcription	NH-A	brain
27	chr4:166126400-166127600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:166126400-166127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:166126400-166127600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:166126400-166127600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:166126400-166127600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:166126600-166127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:166126600-166127600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:166126600-166127600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:166126600-166127600	Enhancers	Primary B cells from cord blood	blood
36	chr4:166126600-166127600	Weak transcription	Hela-S3	cervix
37	chr4:166126800-166127800	Enhancers	Fetal Brain Male	brain
38	chr4:166127000-166127800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:166127200-166127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:166127200-166127600	Enhancers	NHEK	skin
41	chr4:166127200-166127800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:166127200-166128400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr4:166127400-166127600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:166127400-166127600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:166127400-166127600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:166127400-166127600	Enhancers	Primary B cells from peripheral blood	blood
47	chr4:166127400-166127600	Enhancers	Primary T cells from cord blood	blood
48	chr4:166127400-166127600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:166127400-166127600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr4:166127400-166127600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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