Variant report

Variant	rs6685749
Chromosome Location	chr1:113287260-113287261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:113286582-113287306	H1-hESC	embryonic stem cell:	n/a	n/a
2	RCOR1	chr1:113286259-113287274	IMR90	lung:	n/a	n/a
3	TEAD4	chr1:113286827-113287298	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr1:113286864-113287273	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:113286516-113287279	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:113286770-113287321	SK-N-SH	brain:	n/a	n/a
7	HDAC2	chr1:113286803-113287320	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr1:113286653-113287340	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr1:113286248-113287368	H1-hESC	embryonic stem cell:	n/a	chr1:113286469-113286478
10	CTCF	chr1:113286887-113287270	IMR90	lung:	n/a	n/a
11	RAD21	chr1:113286705-113287338	H1-hESC	embryonic stem cell:	n/a	chr1:113286907-113286920 chr1:113287104-113287117 chr1:113286707-113286719
12	BACH1	chr1:113286491-113287320	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113287238-113287288	Hepatocyte	liver:	n/a
2	chr1:113287238-113287288	ECC-1	luminal epithelium:	n/a
3	chr1:113287238-113287288	U87	brain:	n/a
4	chr1:113287238-113287288	ovcar-3	ovarian:	n/a
5	chr1:113287238-113287288	AoSMC	blood vessel:	n/a
6	chr1:113287238-113287288	HCPEpiC	choroid plexus:	n/a
7	chr1:113287238-113287288	PrEC	prostate:	n/a
8	chr1:113287238-113287288	PFSK-1	brain:	n/a
9	chr1:113287238-113287288	SKMC	muscle:	n/a
10	chr1:113287238-113287288	HRPEpiC	eye:	n/a
11	chr1:113287238-113287288	HEK293	kidney:	embryo
12	chr1:113287238-113287288	LNCaP	prostate:	n/a
13	chr1:113287238-113287288	SK-N-MC	brain:	n/a
14	chr1:113287238-113287288	RPTEC	kidney:	n/a
15	chr1:113287238-113287288	HL-60	blood:	n/a
16	chr1:113287238-113287288	AG09309	skin:	n/a
17	chr1:113287238-113287288	GM12892	blood:	n/a
18	chr1:113287238-113287288	Caco-2	colon:	n/a
19	chr1:113287238-113287288	NB4	blood:	n/a
20	chr1:113287238-113287288	NH-A	brain:	n/a
21	chr1:113287238-113287288	T-47D	breast:	n/a
22	chr1:113287238-113287288	HAEpiC	amniotic membrane:	n/a
23	chr1:113287238-113287288	H1-hESC	embryonic stem cell:	embryo
24	chr1:113287238-113287288	HEEpiC	esophagus:	n/a
25	chr1:113287238-113287288	HCM	heart:	n/a
26	chr1:113287238-113287288	Hela-S3	cervix:	n/a
27	chr1:113287238-113287288	A549	lung:	n/a
28	chr1:113287238-113287288	HRE	kidney:	n/a
29	chr1:113287238-113287288	NT2-D1	testis:	n/a
30	chr1:113287238-113287288	SK-N-SH_RA	brain:	n/a
31	chr1:113287238-113287288	HNPCEpiC	eye:	n/a
32	chr1:113287238-113287288	HCT-116	colon:	n/a
33	chr1:113287238-113287288	NHBE	bronchial:	n/a
34	chr1:113287238-113287288	BE2_C	brain:	n/a
35	chr1:113287238-113287288	Jurkat	blood:	n/a
36	chr1:113287238-113287288	AG04450	lung:	fetal
37	chr1:113287238-113287288	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:113287238-113287288	CMK	blood:	n/a
39	chr1:113287238-113287288	GM19239	blood:	n/a
40	chr1:113287238-113287288	AG04449	skin:	fetal
41	chr1:113287238-113287288	GM12878	blood:	n/a
42	chr1:113287238-113287288	HMEC	breast:	n/a
43	chr1:113287238-113287288	PANC-1	pancreas:	n/a
44	chr1:113287238-113287288	AG09319	gingival:	n/a
45	chr1:113287238-113287288	K562	blood:	n/a
46	chr1:113287238-113287288	HCF	heart:	n/a
47	chr1:113287238-113287288	HIPEpiC	eye:	n/a
48	chr1:113287238-113287288	ProgFib	skin:	n/a
49	chr1:113287238-113287288	HepG2	liver:	n/a
50	chr1:113287238-113287288	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113285199..113288052-chr1:113290099..113291862,2	K562	blood:
2	chr1:113286977..113288523-chr1:113338925..113341550,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234790	TF binding region
ENSG00000234790	CpG island
ENSG00000234790	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11584214	0.92[ASN][1000 genomes]
rs34532657	0.87[ASN][1000 genomes]
rs4317803	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4381183	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534375	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534376	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61220461	0.80[ASN][1000 genomes]
rs6683234	0.89[ASN][1000 genomes]
rs68020961	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72701137	0.97[ASN][1000 genomes]
rs7553091	0.80[ASN][1000 genomes]
rs7555319	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv547566	chr1:113248365-113301657	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113286200-113287400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:113286200-113287400	Bivalent/Poised TSS	NHDF-Ad	bronchial
3	chr1:113286200-113287400	Bivalent/Poised TSS	NHEK	skin
4	chr1:113286400-113287400	Flanking Active TSS	NH-A	brain
5	chr1:113286400-113287400	Bivalent/Poised TSS	NHLF	lung
6	chr1:113286600-113287400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr1:113286600-113287400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
8	chr1:113286600-113287400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:113287000-113287400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr1:113287000-113287400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr1:113287000-113287400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
12	chr1:113287000-113287400	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr1:113287200-113287400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr1:113287200-113287400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr1:113287200-113287400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:113287200-113287400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr1:113287200-113287400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:113287200-113287400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:113287200-113287400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:113287200-113287400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:113287200-113287400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:113287200-113287400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:113287200-113287400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:113287200-113287400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:113287200-113287400	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr1:113287200-113287400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr1:113287200-113287400	Bivalent Enhancer	Fetal Kidney	kidney
28	chr1:113287200-113287400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr1:113287200-113287400	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:113287200-113287400	Bivalent Enhancer	Fetal Thymus	thymus
31	chr1:113287200-113287400	Enhancers	HMEC	breast
32	chr1:113287200-113287400	Enhancers	Osteobl	bone
33	chr1:113287200-113287600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:113287200-113290800	Weak transcription	Pancreas	Pancrea

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