Variant report

Variant	rs568279524
Chromosome Location	chr6:30659733-30659734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30659294-30660005	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30652587..30660257-chr6:30673612..30681352,12	MCF-7	breast:
2	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
3	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
4	chr6:30580498..30587281-chr6:30649167..30662031,51	K562	blood:
5	chr6:30659501..30661605-chr6:30670275..30673098,2	MCF-7	breast:
6	chr6:30582891..30586139-chr6:30656870..30660301,3	MCF-7	breast:

No data

Variant related genes	Relation type
NRM	TF binding region
PPP1R18	TF binding region
ENSG00000196230	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000224328	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
7	nsv884094	chr6:30637998-30660611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
9	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
10	nsv884095	chr6:30644987-30664567	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv884096	chr6:30647979-30664567	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv884097	chr6:30650378-30660611	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv884098	chr6:30650378-30664567	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv884099	chr6:30652931-30660611	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv969377	chr6:30659579-30667545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30658800-30660400	Enhancers	Placenta	Placenta
2	chr6:30658800-30662400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:30658800-30668200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:30658800-30670200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:30658800-30670400	Weak transcription	Lung	lung
6	chr6:30659000-30663600	Weak transcription	Pancreas	Pancrea
7	chr6:30659000-30669800	Weak transcription	Left Ventricle	heart
8	chr6:30659000-30670200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:30659000-30670200	Weak transcription	Esophagus	oesophagus
10	chr6:30659000-30670200	Weak transcription	Gastric	stomach
11	chr6:30659000-30670200	Weak transcription	Ovary	ovary
12	chr6:30659000-30670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:30659000-30670200	Weak transcription	Spleen	Spleen
14	chr6:30659000-30670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:30659000-30670800	Weak transcription	Right Ventricle	heart
16	chr6:30659200-30659800	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:30659200-30659800	Enhancers	Fetal Muscle Leg	muscle
18	chr6:30659200-30659800	Flanking Active TSS	HepG2	liver
19	chr6:30659200-30659800	Flanking Active TSS	K562	blood
20	chr6:30659200-30666400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:30659200-30667800	Weak transcription	Fetal Intestine Large	intestine
22	chr6:30659200-30668000	Weak transcription	Thymus	Thymus
23	chr6:30659200-30669800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:30659200-30670000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:30659200-30670200	Weak transcription	Colonic Mucosa	Colon
26	chr6:30659200-30670400	Weak transcription	Aorta	Aorta
27	chr6:30659200-30670400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:30659200-30673400	Weak transcription	Psoas Muscle	Psoas
29	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
30	chr6:30659400-30659800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:30659400-30659800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:30659400-30659800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:30659400-30659800	Enhancers	NHDF-Ad	bronchial
34	chr6:30659400-30662800	Weak transcription	Fetal Kidney	kidney
35	chr6:30659400-30662800	Weak transcription	Osteobl	bone
36	chr6:30659400-30666200	Weak transcription	Fetal Intestine Small	intestine
37	chr6:30659400-30666400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:30659400-30667600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:30659400-30667800	Weak transcription	Fetal Brain Female	brain
40	chr6:30659400-30669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:30659400-30669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:30659400-30670200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:30659400-30671000	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:30659400-30672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:30659400-30675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
47	chr6:30659600-30659800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:30659600-30659800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:30659600-30659800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:30659600-30659800	Enhancers	GM12878-XiMat	blood

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