Variant report

Variant	rs539168524
Chromosome Location	chr6:36808068-36808069
allele	A/G
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	MYC	chr6:36807717-36808085	K562	blood:	n/a	chr6:36808000-36808010
2	ZBTB7A	chr6:36807977-36808145	HepG2	liver:	n/a	n/a
3	YY1	chr6:36807625-36808102	HepG2	liver:	n/a	chr6:36807680-36807694
4	ZBTB7A	chr6:36807586-36808288	K562	blood:	n/a	chr6:36807712-36807721
5	MAZ	chr6:36807597-36808084	K562	blood:	n/a	chr6:36808000-36808010
6	POLR2A	chr6:36807037-36808162	H1-neurons	neurons:	n/a	n/a
7	CTCF	chr6:36807507-36808105	K562	blood:	n/a	chr6:36807713-36807726
8	POLR2A	chr6:36807074-36808141	H1-neurons	neurons:	n/a	n/a
9	CTBP2	chr6:36807924-36809045	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB7A	chr6:36807009-36808340	ECC-1	luminal epithelium:	n/a	chr6:36807712-36807721
11	MAX	chr6:36807540-36808074	K562	blood:	n/a	chr6:36808000-36808010
12	GABPA	chr6:36807590-36808079	K562	blood:	n/a	chr6:36807915-36807924
13	CTCF	chr6:36807920-36808070	AG10803	skin:	n/a	n/a
14	MAZ	chr6:36807030-36808127	IMR90	lung:	n/a	chr6:36808000-36808010
15	CREB1	chr6:36807440-36808123	K562	blood:	n/a	n/a
16	ZBTB7A	chr6:36807000-36808387	K562	blood:	n/a	chr6:36807712-36807721
17	ZBTB7A	chr6:36806924-36808244	ECC-1	luminal epithelium:	n/a	chr6:36807712-36807721 chr6:36806964-36806973
18	MAX	chr6:36807644-36808118	ECC-1	luminal epithelium:	n/a	chr6:36808000-36808010
19	CTCF	chr6:36807940-36808090	AG09309	skin:	n/a	n/a
20	E2F6	chr6:36808060-36809021	H1-hESC	embryonic stem cell:	n/a	chr6:36808802-36808811 chr6:36808071-36808088 chr6:36808073-36808087 chr6:36808078-36808085
21	CTCF	chr6:36807960-36808110	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36803997..36809047-chr6:36852852..36856509,4	K562	blood:
2	chr6:36807524..36809361-chr6:36841077..36843091,2	K562	blood:
3	chr6:36807086..36809328-chr6:36841078..36843476,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE5-1	chr6:36807550-36808916	XLOC_005701

Variant related genes	Relation type
CPNE5	TF binding region
ENSG00000137168	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5262	chr6:36799329-36826210	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv3421891	chr6:36806599-36809147	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36804000-36808200	Active TSS	Brain Anterior Caudate	brain
2	chr6:36806200-36808200	Active TSS	Brain Angular Gyrus	brain
3	chr6:36806200-36808400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:36806600-36808200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:36806600-36808200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr6:36806600-36808400	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr6:36806600-36809000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:36806600-36809000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr6:36806600-36809000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:36806600-36809000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:36806600-36809000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:36806600-36809000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:36806800-36808400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:36806800-36808400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
15	chr6:36806800-36808400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:36806800-36808600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:36806800-36808800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:36806800-36809000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:36807000-36808200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr6:36807000-36808400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr6:36807000-36808600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
22	chr6:36807000-36808600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:36807000-36808600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr6:36807000-36808800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:36807000-36808800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:36807200-36808200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:36807200-36808200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:36807200-36808200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:36807200-36808200	Active TSS	Aorta	Aorta
30	chr6:36807200-36808200	Active TSS	K562	blood
31	chr6:36807200-36808600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr6:36807200-36808800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr6:36807200-36808800	Enhancers	Spleen	Spleen
34	chr6:36807200-36809200	Enhancers	Fetal Brain Male	brain
35	chr6:36807400-36808200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:36807400-36808200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:36807400-36808200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr6:36807400-36808200	Active TSS	Ovary	ovary
39	chr6:36807400-36808200	Flanking Active TSS	Dnd41	blood
40	chr6:36807400-36808400	Bivalent Enhancer	Placenta	Placenta
41	chr6:36807400-36808800	Enhancers	Gastric	stomach
42	chr6:36807600-36808600	Flanking Bivalent TSS/Enh	Thymus	Thymus
43	chr6:36807800-36808200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr6:36807800-36808200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:36807800-36808200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:36807800-36808200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:36807800-36808200	Flanking Active TSS	Esophagus	oesophagus
48	chr6:36807800-36808200	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr6:36807800-36808200	Flanking Bivalent TSS/Enh	NH-A	brain
50	chr6:36807800-36808200	Flanking Bivalent TSS/Enh	Osteobl	bone

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