Variant report

Variant	rs4713720
Chromosome Location	chr6:33877293-33877294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33877291-33877341	PANC-1	pancreas:	n/a
2	chr6:33877291-33877341	GM12878	blood:	n/a
3	chr6:33877291-33877341	NHBE	bronchial:	n/a
4	chr6:33877291-33877341	MCF-7	breast:	n/a
5	chr6:33877291-33877341	LNCaP	prostate:	n/a
6	chr6:33877291-33877341	ECC-1	luminal epithelium:	n/a
7	chr6:33877291-33877341	AG10803	skin:	n/a
8	chr6:33877291-33877341	HCF	heart:	n/a
9	chr6:33877291-33877341	K562	blood:	n/a
10	chr6:33877291-33877341	NT2-D1	testis:	n/a
11	chr6:33877291-33877341	IMR90	lung:	fetal
12	chr6:33877291-33877341	GM19239	blood:	n/a
13	chr6:33877291-33877341	GM12892	blood:	n/a
14	chr6:33877291-33877341	RPTEC	kidney:	n/a
15	chr6:33877291-33877341	HL-60	blood:	n/a
16	chr6:33877291-33877341	Jurkat	blood:	n/a
17	chr6:33877291-33877341	A549	lung:	n/a
18	chr6:33877291-33877341	HRCEpiC	kidney:	n/a
19	chr6:33877291-33877341	SK-N-SH	brain:	n/a
20	chr6:33877291-33877341	Caco-2	colon:	n/a
21	chr6:33877291-33877341	CMK	blood:	n/a
22	chr6:33877291-33877341	AG04450	lung:	fetal
23	chr6:33877291-33877341	PFSK-1	brain:	n/a
24	chr6:33877291-33877341	HPAEpiC	pulmonary alveolar:	n/a
25	chr6:33877291-33877341	PrEC	prostate:	n/a
26	chr6:33877291-33877341	Hela-S3	cervix:	n/a
27	chr6:33877291-33877341	SK-N-MC	brain:	n/a
28	chr6:33877291-33877341	HIPEpiC	eye:	n/a
29	chr6:33877291-33877341	NH-A	brain:	n/a
30	chr6:33877291-33877341	BE2_C	brain:	n/a
31	chr6:33877291-33877341	AG09319	gingival:	n/a
32	chr6:33877291-33877341	SAEC	small airway:	n/a
33	chr6:33877291-33877341	HCPEpiC	choroid plexus:	n/a
34	chr6:33877291-33877341	NHDF-neo	bronchial:	n/a
35	chr6:33877291-33877341	HUVEC	blood vessel:	n/a
36	chr6:33877291-33877341	SKMC	muscle:	n/a
37	chr6:33877291-33877341	HAEpiC	amniotic membrane:	n/a
38	chr6:33877291-33877341	HNPCEpiC	eye:	n/a
39	chr6:33877291-33877341	HMEC	breast:	n/a
40	chr6:33877291-33877341	Hepatocyte	liver:	n/a
41	chr6:33877291-33877341	AG09309	skin:	n/a
42	chr6:33877291-33877341	HRE	kidney:	n/a
43	chr6:33877291-33877341	HCT-116	colon:	n/a
44	chr6:33877291-33877341	T-47D	breast:	n/a
45	chr6:33877291-33877341	HepG2	liver:	n/a
46	chr6:33877291-33877341	HCM	heart:	n/a
47	chr6:33877291-33877341	HEEpiC	esophagus:	n/a
48	chr6:33877291-33877341	SK-N-SH_RA	brain:	n/a
49	chr6:33877291-33877341	ProgFib	skin:	n/a
50	chr6:33877291-33877341	MCF10A-Er-Src	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33864193..33866303-chr6:33876209..33879014,2	MCF-7	breast:
2	chr6:33864121..33865867-chr6:33876208..33878282,2	MCF-7	breast:
3	chr6:33871240..33875960-chr6:33876004..33878253,4	K562	blood:
4	chr6:33874668..33878393-chr6:33879974..33881906,3	K562	blood:
5	chr6:33868935..33870762-chr6:33875673..33878482,2	MCF-7	breast:
6	chr6:33875969..33877770-chr6:33880104..33881906,2	K562	blood:
7	chr6:33875835..33878450-chr6:33882484..33884000,2	K562	blood:
8	chr6:33871826..33874776-chr6:33875956..33877869,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233183	CpG island
ENSG00000249346	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12523795	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs12526291	0.88[CHB][hapmap]
rs16869672	1.00[CHB][hapmap]
rs6905327	0.84[JPT][hapmap]
rs6941036	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs732674	0.91[ASN][1000 genomes]
rs732675	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33865600-33883000	Weak transcription	Esophagus	oesophagus
2	chr6:33868200-33877800	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:33872800-33878000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:33872800-33878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:33873000-33884000	Enhancers	Fetal Thymus	thymus
6	chr6:33873200-33877400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:33873200-33878200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:33873400-33878000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:33873400-33878000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:33873400-33878400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:33873400-33883800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:33873800-33879000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:33873800-33882000	Weak transcription	Spleen	Spleen
14	chr6:33874000-33881800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:33874200-33882200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:33874200-33889200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:33874400-33877800	Enhancers	Liver	Liver
18	chr6:33874600-33878000	Enhancers	Fetal Intestine Large	intestine
19	chr6:33875400-33881400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:33875400-33881400	Weak transcription	Thymus	Thymus
21	chr6:33876000-33880800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:33876200-33877400	Weak transcription	K562	blood
23	chr6:33876400-33877400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:33876400-33877600	Weak transcription	Fetal Intestine Small	intestine
25	chr6:33876400-33879200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:33876400-33880000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:33876600-33878000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:33876600-33881800	Weak transcription	Primary B cells from cord blood	blood
29	chr6:33876600-33882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:33876800-33880200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:33876800-33882000	Weak transcription	GM12878-XiMat	blood
32	chr6:33877000-33877400	Bivalent Enhancer	HepG2	liver
33	chr6:33877000-33881600	Weak transcription	Primary T cells from cord blood	blood

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