Variant report

Variant	rs4317803
Chromosome Location	chr1:113286840-113286841
allele	C/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	MAX	chr1:113286582-113287306	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF2	chr1:113286653-113287147	H1-hESC	embryonic stem cell:	n/a	chr1:113286671-113286687
3	CHD2	chr1:113286755-113287177	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr1:113286259-113287274	IMR90	lung:	n/a	n/a
5	TEAD4	chr1:113286827-113287298	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr1:113286700-113286893	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:113286516-113287279	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:113286770-113287321	SK-N-SH	brain:	n/a	n/a
9	HDAC2	chr1:113286803-113287320	H1-hESC	embryonic stem cell:	n/a	n/a
10	GABPA	chr1:113286552-113287182	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:113286828-113287028	K562	blood:	n/a	n/a
12	E2F6	chr1:113286653-113287340	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr1:113286248-113287368	H1-hESC	embryonic stem cell:	n/a	chr1:113286469-113286478
14	TBP	chr1:113286535-113287139	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr1:113286705-113287338	H1-hESC	embryonic stem cell:	n/a	chr1:113286907-113286920 chr1:113287104-113287117 chr1:113286707-113286719
16	CTCF	chr1:113286740-113286890	NHLF	lung:	n/a	n/a
17	BACH1	chr1:113286491-113287320	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr1:113286824-113287118	H1-hESC	embryonic stem cell:	n/a	n/a

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

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11584214	0.90[ASN][1000 genomes]
rs34532657	0.86[ASN][1000 genomes]
rs4381183	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4534375	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4534376	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683234	0.87[ASN][1000 genomes]
rs6685749	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68020961	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72701137	0.95[ASN][1000 genomes]
rs7555319	0.80[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113285800-113287000	Bivalent Enhancer	Fetal Heart	heart
2	chr1:113285800-113287200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:113285800-113287200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:113286200-113287000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
5	chr1:113286200-113287000	Bivalent Enhancer	Lung	lung
6	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr1:113286200-113287200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr1:113286200-113287200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:113286200-113287200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:113286200-113287200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:113286200-113287200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr1:113286200-113287200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr1:113286200-113287200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:113286200-113287200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr1:113286200-113287200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
22	chr1:113286200-113287400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:113286200-113287400	Bivalent/Poised TSS	NHDF-Ad	bronchial
24	chr1:113286200-113287400	Bivalent/Poised TSS	NHEK	skin
25	chr1:113286400-113287000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:113286400-113287000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:113286400-113287000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:113286400-113287000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:113286400-113287000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:113286400-113287000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr1:113286400-113287000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
32	chr1:113286400-113287000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:113286400-113287000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr1:113286400-113287000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr1:113286400-113287000	Active TSS	Ovary	ovary
36	chr1:113286400-113287000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
37	chr1:113286400-113287000	Flanking Active TSS	Right Ventricle	heart
38	chr1:113286400-113287000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr1:113286400-113287000	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr1:113286400-113287000	Enhancers	Spleen	Spleen
41	chr1:113286400-113287200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:113286400-113287200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr1:113286400-113287200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr1:113286400-113287200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:113286400-113287200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:113286400-113287200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
47	chr1:113286400-113287200	Bivalent/Poised TSS	Fetal Brain Female	brain
48	chr1:113286400-113287200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr1:113286400-113287200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr1:113286400-113287200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links