Variant report

Variant	rs113707476
Chromosome Location	chr6:36702907-36702908
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:36702871-36703064	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr6:36702860-36703010	RPTEC	kidney:	n/a	n/a
3	CTCF	chr6:36702904-36703009	GM12878	blood:	n/a	n/a
4	CTCF	chr6:36702893-36703008	Fibrobl	skin:	n/a	n/a
5	CTCF	chr6:36702880-36703030	GM12870	blood:	n/a	n/a
6	CTCF	chr6:36702860-36703010	HCM	heart:	n/a	n/a
7	CTCF	chr6:36702840-36702990	HBMEC	blood vessel:	n/a	n/a
8	ZNF143	chr6:36702643-36703091	GM12878	blood:	n/a	chr6:36702832-36702850
9	POLR2A	chr6:36701895-36703832	HL-60	blood:	n/a	n/a
10	CTCF	chr6:36702800-36702950	HCM	heart:	n/a	n/a
11	CTCF	chr6:36702880-36703030	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr6:36702860-36703058	NHEK	skin:	n/a	n/a
13	CTCF	chr6:36702900-36703050	AG04449	skin:	n/a	n/a
14	CTCF	chr6:36702860-36703010	NHEK	skin:	n/a	n/a
15	CEBPB	chr6:36702907-36703264	IMR90	lung:	n/a	n/a
16	CTCF	chr6:36702860-36703010	BJ	skin:	n/a	n/a
17	CTCF	chr6:36702900-36703190	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr6:36702840-36702990	GM12873	blood:	n/a	n/a
19	CTCF	chr6:36702900-36703050	GM12866	blood:	n/a	n/a
20	CTCF	chr6:36702900-36703050	GM12871	blood:	n/a	n/a
21	CTCF	chr6:36702900-36703050	HCFaa	heart:	n/a	n/a
22	CTCF	chr6:36702880-36703030	GM12874	blood:	n/a	n/a
23	CTCF	chr6:36702900-36703050	GM12878	blood:	n/a	n/a
24	CTCF	chr6:36702880-36703030	HL-60	blood:	n/a	n/a
25	CTCF	chr6:36702840-36702990	AG04450	lung:	n/a	n/a
26	CTCF	chr6:36702860-36703010	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr6:36702799-36703127	GM12878	blood:	n/a	n/a
28	CTCF	chr6:36702880-36703030	GM12873	blood:	n/a	n/a
29	CTCF	chr6:36702860-36703010	HPF	lung:	n/a	n/a
30	MAZ	chr6:36702661-36703935	IMR90	lung:	n/a	n/a
31	CTCF	chr6:36702855-36703111	IMR90	lung:	n/a	n/a
32	CTCF	chr6:36702859-36703060	GM19238	blood:	n/a	n/a
33	CTCF	chr6:36702900-36703050	SAEC	small airway:	n/a	n/a
34	CTCF	chr6:36702860-36703010	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr6:36702880-36703030	HMEC	breast:	n/a	n/a
36	CTCF	chr6:36702880-36703030	GM12867	blood:	n/a	n/a
37	CTCF	chr6:36702820-36702970	HAc	cerebellar:	n/a	n/a
38	CTCF	chr6:36702880-36703030	NHEK	skin:	n/a	n/a
39	CTCF	chr6:36702880-36703030	GM12872	blood:	n/a	n/a
40	CTCF	chr6:36702840-36702990	GM12875	blood:	n/a	n/a
41	POLR2A	chr6:36702134-36704101	NB4	blood:	n/a	n/a
42	CTCF	chr6:36702880-36703030	GM12868	blood:	n/a	n/a
43	CTCF	chr6:36702880-36703030	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr6:36702860-36703010	GM12874	blood:	n/a	n/a
45	CTCF	chr6:36702900-36703050	AG09319	gingival:	n/a	n/a
46	CTCF	chr6:36702880-36703030	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr6:36702800-36702950	NB4	blood:	n/a	n/a
48	CTCF	chr6:36702880-36703030	GM12864	blood:	n/a	n/a
49	CTCF	chr6:36702900-36703050	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr6:36702900-36703050	HPF	lung:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36692869..36694899-chr6:36700775..36703080,2	MCF-7	breast:
2	chr6:36583432..36585248-chr6:36700120..36704013,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220349	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv885809	chr6:36687518-36719079	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv885810	chr6:36695223-36714491	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv885811	chr6:36695223-36719079	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv885812	chr6:36696904-36705684	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv819609	chr6:36700559-36708943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv520755	chr6:36702284-36713720	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv885813	chr6:36702843-36713720	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36694000-36703000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:36699200-36703200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:36699200-36703400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:36702000-36704000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:36702200-36703800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:36702200-36703800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:36702200-36703800	Enhancers	Spleen	Spleen
8	chr6:36702200-36704000	Enhancers	Esophagus	oesophagus
9	chr6:36702200-36704000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:36702200-36704200	Enhancers	Stomach Mucosa	stomach
11	chr6:36702200-36704800	Enhancers	Lung	lung
12	chr6:36702400-36703000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:36702400-36703000	Enhancers	Fetal Brain Male	brain
14	chr6:36702400-36703000	Enhancers	Left Ventricle	heart
15	chr6:36702400-36703000	Enhancers	Ovary	ovary
16	chr6:36702400-36703400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr6:36702400-36703400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr6:36702400-36703400	Bivalent Enhancer	Placenta	Placenta
19	chr6:36702400-36703400	Enhancers	Fetal Thymus	thymus
20	chr6:36702400-36703400	Enhancers	GM12878-XiMat	blood
21	chr6:36702400-36703600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:36702400-36703600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:36702400-36703600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:36702400-36703600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:36702400-36703600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:36702400-36703600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:36702400-36703800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:36702400-36704000	Enhancers	Psoas Muscle	Psoas
29	chr6:36702400-36704000	Enhancers	Right Atrium	heart
30	chr6:36702400-36704000	Enhancers	Right Ventricle	heart
31	chr6:36702400-36704200	Enhancers	Small Intestine	intestine
32	chr6:36702600-36703000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr6:36702600-36703000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:36702600-36703000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:36702600-36703000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:36702600-36703000	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr6:36702600-36703200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:36702600-36703200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr6:36702600-36703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:36702600-36703200	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr6:36702600-36703400	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:36702600-36703400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:36702600-36703400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:36702600-36703400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:36702600-36703400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:36702600-36703400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:36702600-36703400	Flanking Active TSS	Colonic Mucosa	Colon
48	chr6:36702600-36703400	Enhancers	HMEC	breast
49	chr6:36702600-36703400	Flanking Active TSS	NHEK	skin
50	chr6:36702600-36703400	Flanking Active TSS	NHLF	lung

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