Variant report

Variant	rs3132593
Chromosome Location	chr6:30618116-30618117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30618080-30618133	MCF-7	breast:	n/a	n/a
2	POLR2A	chr6:30617138-30618316	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:30618096-30618117	K562	blood:	n/a	n/a
4	POLR2A	chr6:30612895-30618163	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:30618025-30618146	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:30618094-30618550	K562	blood:	n/a	n/a
7	POLR2A	chr6:30617953-30618386	PFSK-1	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30580789..30587552-chr6:30608606..30620072,66	K562	blood:
2	chr6:30609523..30619025-chr6:30620991..30630753,19	MCF-7	breast:
3	chr6:30591157..30598732-chr6:30607879..30619621,21	K562	blood:
4	chr6:30583697..30586292-chr6:30616781..30618296,2	MCF-7	breast:

No data

Variant related genes	Relation type
C6orf136	TF binding region
ENSG00000137343	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000204568	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1264422	1.00[AMR][1000 genomes]
rs1264430	1.00[AMR][1000 genomes]
rs1264442	1.00[AMR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes]
rs2252845	1.00[AMR][1000 genomes]
rs2517563	1.00[AMR][1000 genomes]
rs2517567	1.00[AMR][1000 genomes]
rs2534688	1.00[AMR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes]
rs3094105	1.00[AMR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes]
rs3130675	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv884093	chr6:30604955-30618906	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30615800-30618800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30615800-30619000	Weak transcription	Aorta	Aorta
3	chr6:30615800-30619000	Weak transcription	Spleen	Spleen
4	chr6:30615800-30619600	Weak transcription	Esophagus	oesophagus
5	chr6:30616000-30618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:30616000-30618800	Weak transcription	Ovary	ovary
7	chr6:30616000-30618800	Weak transcription	Small Intestine	intestine
8	chr6:30616000-30627000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:30616200-30618600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:30616200-30618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:30616200-30618600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:30616200-30618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:30616200-30618600	Weak transcription	K562	blood
14	chr6:30616200-30618800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:30616200-30618800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:30616200-30618800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:30616200-30618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:30616200-30618800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:30616200-30618800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:30616200-30618800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:30616200-30618800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:30616200-30618800	Weak transcription	Primary B cells from cord blood	blood
23	chr6:30616200-30618800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:30616200-30618800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:30616200-30618800	Weak transcription	Adipose Nuclei	Adipose
26	chr6:30616200-30618800	Weak transcription	Brain Angular Gyrus	brain
27	chr6:30616200-30618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:30616200-30618800	Weak transcription	Brain Substantia Nigra	brain
29	chr6:30616200-30618800	Weak transcription	HMEC	breast
30	chr6:30616200-30618800	Weak transcription	HSMMtube	muscle
31	chr6:30616200-30618800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:30616200-30618800	Weak transcription	NH-A	brain
33	chr6:30616200-30618800	Weak transcription	NHEK	skin
34	chr6:30616200-30618800	Weak transcription	Osteobl	bone
35	chr6:30616200-30619000	Weak transcription	Stomach Mucosa	stomach
36	chr6:30616200-30619400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:30616200-30619400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:30616200-30619800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr6:30616200-30620200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:30616200-30620200	Weak transcription	HSMM	muscle
41	chr6:30616200-30620200	Weak transcription	NHLF	lung
42	chr6:30616200-30620600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:30616200-30620600	Weak transcription	GM12878-XiMat	blood
44	chr6:30616200-30621000	Weak transcription	HUVEC	blood vessel
45	chr6:30616200-30622000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:30616200-30622400	Weak transcription	NHDF-Ad	bronchial
47	chr6:30616200-30627600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr6:30616200-30627600	Weak transcription	Fetal Brain Male	brain
49	chr6:30616200-30630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:30616200-30639800	Weak transcription	Right Atrium	heart

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