Variant report

Variant	rs57991968
Chromosome Location	chr6:33376588-33376589
allele	C/T
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:18)
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	chr6:33376588-33376638	HNPCEpiC	eye:	n/a
2	chr6:33376588-33376638	AG10803	skin:	n/a
3	chr6:33376588-33376638	Hepatocyte	liver:	n/a
4	chr6:33376588-33376638	HCM	heart:	n/a
5	chr6:33376588-33376638	BE2_C	brain:	n/a
6	chr6:33376588-33376638	PFSK-1	brain:	n/a
7	chr6:33376588-33376638	GM12878	blood:	n/a
8	chr6:33376588-33376638	AG09319	gingival:	n/a
9	chr6:33376588-33376638	LNCaP	prostate:	n/a
10	chr6:33376588-33376638	AG09309	skin:	n/a
11	chr6:33376588-33376638	A549	lung:	n/a
12	chr6:33376588-33376638	GM06990	blood:	n/a
13	chr6:33376588-33376638	AoSMC	blood vessel:	n/a
14	chr6:33376588-33376638	SK-N-SH	brain:	n/a
15	chr6:33376588-33376638	HCT-116	colon:	n/a
16	chr6:33376588-33376638	NT2-D1	testis:	n/a
17	chr6:33376588-33376638	HEK293	kidney:	embryo
18	chr6:33376588-33376638	HEEpiC	esophagus:	n/a
19	chr6:33376588-33376638	GM12892	blood:	n/a
20	chr6:33376588-33376638	PrEC	prostate:	n/a
21	chr6:33376588-33376638	HCF	heart:	n/a
22	chr6:33376588-33376638	SK-N-MC	brain:	n/a
23	chr6:33376588-33376638	HL-60	blood:	n/a
24	chr6:33376588-33376638	HRE	kidney:	n/a
25	chr6:33376588-33376638	HMEC	breast:	n/a
26	chr6:33376588-33376638	ProgFib	skin:	n/a
27	chr6:33376588-33376638	SAEC	small airway:	n/a
28	chr6:33376588-33376638	HRPEpiC	eye:	n/a
29	chr6:33376588-33376638	Caco-2	colon:	n/a
30	chr6:33376588-33376638	NB4	blood:	n/a
31	chr6:33376588-33376638	AG04450	lung:	fetal
32	chr6:33376588-33376638	CMK	blood:	n/a
33	chr6:33376588-33376638	PANC-1	pancreas:	n/a
34	chr6:33376588-33376638	SK-N-SH_RA	brain:	n/a
35	chr6:33376588-33376638	MCF10A-Er-Src	breast:	n/a
36	chr6:33376588-33376638	NH-A	brain:	n/a
37	chr6:33376588-33376638	H1-hESC	embryonic stem cell:	embryo
38	chr6:33376588-33376638	K562	blood:	n/a
39	chr6:33376588-33376638	T-47D	breast:	n/a
40	chr6:33376588-33376638	U87	brain:	n/a
41	chr6:33376588-33376638	AG04449	skin:	fetal
42	chr6:33376588-33376638	BJ	skin:	n/a
43	chr6:33376588-33376638	HUVEC	blood vessel:	n/a
44	chr6:33376588-33376638	HIPEpiC	eye:	n/a
45	chr6:33376588-33376638	GM12891	blood:	n/a
46	chr6:33376588-33376638	IMR90	lung:	fetal
47	chr6:33376588-33376638	Hela-S3	cervix:	n/a
48	chr6:33376588-33376638	GM19239	blood:	n/a
49	chr6:33376588-33376638	Jurkat	blood:	n/a
50	chr6:33376588-33376638	HepG2	liver:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:33366608..33368247-chr6:33376462..33378479,2	MCF-7	breast:
3	chr6:33167104..33169096-chr6:33376083..33378504,2	K562	blood:
4	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
5	chr6:32939728..32941836-chr6:33373672..33377243,3	MCF-7	breast:
6	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
7	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
8	chr6:33344403..33346909-chr6:33375417..33377208,2	K562	blood:
9	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
10	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
11	chr6:33166881..33169550-chr6:33376292..33379063,3	K562	blood:
12	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
13	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
14	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
15	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
16	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
17	chr6:33215708..33217469-chr6:33373843..33377513,3	MCF-7	breast:
18	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

No data

Variant related genes	Relation type
PHF1	CpG island
ENSG00000204256	Chromatin interaction
ENSG00000232940	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000202441	Chromatin interaction

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

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

rs_ID	r²[population]
rs57206692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59507163	0.83[AFR][1000 genomes]
rs6901334	1.00[AMR][1000 genomes]
rs6930593	1.00[AMR][1000 genomes]
rs73402303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402305	0.84[AFR][1000 genomes]
rs73402312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402373	1.00[AMR][1000 genomes]
rs73402386	1.00[AMR][1000 genomes]
rs73416054	0.86[AFR][1000 genomes]
rs9469425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469439	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33377400	Weak transcription	Small Intestine	intestine
2	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
3	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
4	chr6:33360400-33377600	Weak transcription	Lung	lung
5	chr6:33360800-33377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:33361000-33377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:33361200-33377200	Weak transcription	Colonic Mucosa	Colon
8	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:33361600-33377200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:33363200-33377200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:33363200-33377200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:33363400-33377200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:33363400-33377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:33364000-33377200	Weak transcription	Fetal Heart	heart
16	chr6:33365200-33376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:33365400-33376600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:33365400-33376600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:33365400-33376600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:33365400-33376800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr6:33365400-33376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:33365400-33376800	Strong transcription	K562	blood
23	chr6:33366400-33377200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:33366400-33377200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:33369800-33377000	Strong transcription	Hela-S3	cervix
26	chr6:33371800-33377200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:33372000-33377400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:33372600-33377200	Weak transcription	NH-A	brain
29	chr6:33372600-33377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:33372600-33377600	Weak transcription	Fetal Kidney	kidney
31	chr6:33372800-33377200	Weak transcription	Placenta	Placenta
32	chr6:33372800-33377600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:33373400-33377200	Weak transcription	Spleen	Spleen
34	chr6:33373600-33377000	Weak transcription	Primary T cells from cord blood	blood
35	chr6:33373800-33377000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:33373800-33377000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:33374000-33377000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:33374000-33377000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:33374000-33377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr6:33374000-33377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:33374000-33377400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:33374200-33377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:33374200-33377200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:33374200-33377200	Weak transcription	NHDF-Ad	bronchial
45	chr6:33374400-33377000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:33374400-33377200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:33374400-33377200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:33374400-33377200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:33374400-33377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:33374400-33377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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