Variant report

Variant	rs4381183
Chromosome Location	chr1:113286449-113286450
allele	A/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	EGR1	chr1:113286324-113286598	K562	blood:	n/a	chr1:113286464-113286477 chr1:113286464-113286478 chr1:113286463-113286478 chr1:113286466-113286476 chr1:113286464-113286477 chr1:113286467-113286476 chr1:113286465-113286476 chr1:113286466-113286476 chr1:113286527-113286534 chr1:113286467-113286477 chr1:113286464-113286477 chr1:113286464-113286477
2	RCOR1	chr1:113286259-113287274	IMR90	lung:	n/a	n/a
3	EGR1	chr1:113286352-113286612	K562	blood:	n/a	chr1:113286464-113286477 chr1:113286464-113286478 chr1:113286463-113286478 chr1:113286466-113286476 chr1:113286464-113286477 chr1:113286467-113286476 chr1:113286465-113286476 chr1:113286466-113286476 chr1:113286527-113286534 chr1:113286467-113286477 chr1:113286464-113286477 chr1:113286464-113286477
4	EGR1	chr1:113286301-113286734	H1-hESC	embryonic stem cell:	n/a	chr1:113286464-113286477 chr1:113286464-113286478 chr1:113286463-113286478 chr1:113286466-113286476 chr1:113286464-113286477 chr1:113286467-113286476 chr1:113286465-113286476 chr1:113286466-113286476 chr1:113286527-113286534 chr1:113286467-113286477 chr1:113286464-113286477 chr1:113286464-113286477
5	E2F6	chr1:113286248-113287368	H1-hESC	embryonic stem cell:	n/a	chr1:113286469-113286478
6	ZNF143	chr1:113286382-113286715	H1-hESC	embryonic stem cell:	n/a	chr1:113286401-113286411

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: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11584214	0.92[ASN][1000 genomes]
rs34532657	0.87[ASN][1000 genomes]
rs4317803	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4534375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534376	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61220461	0.80[ASN][1000 genomes]
rs6682219	0.81[JPT][hapmap]
rs6683234	0.89[ASN][1000 genomes]
rs6685749	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68020961	0.80[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113285600-113286800	Weak transcription	Pancreas	Pancrea
2	chr1:113285800-113287000	Bivalent Enhancer	Fetal Heart	heart
3	chr1:113285800-113287200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:113285800-113287200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:113286200-113286600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:113286200-113286600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:113286200-113286600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:113286200-113286800	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr1:113286200-113287000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr1:113286200-113287000	Bivalent Enhancer	Lung	lung
11	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr1:113286200-113287200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr1:113286200-113287200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:113286200-113287200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:113286200-113287200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:113286200-113287200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr1:113286200-113287200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr1:113286200-113287200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:113286200-113287200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr1:113286200-113287200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr1:113286200-113287200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
27	chr1:113286200-113287400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:113286200-113287400	Bivalent/Poised TSS	NHDF-Ad	bronchial
29	chr1:113286200-113287400	Bivalent/Poised TSS	NHEK	skin
30	chr1:113286400-113286600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:113286400-113286600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:113286400-113286600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:113286400-113286600	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr1:113286400-113286600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
35	chr1:113286400-113286600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr1:113286400-113286600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr1:113286400-113286600	Bivalent Enhancer	Fetal Stomach	stomach
38	chr1:113286400-113286600	Active TSS	Gastric	stomach
39	chr1:113286400-113286600	Bivalent Enhancer	Left Ventricle	heart
40	chr1:113286400-113286600	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr1:113286400-113286600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr1:113286400-113286600	Enhancers	HMEC	breast
43	chr1:113286400-113286800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
44	chr1:113286400-113286800	Bivalent Enhancer	Primary T cells from cord blood	blood
45	chr1:113286400-113286800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr1:113286400-113286800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:113286400-113286800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr1:113286400-113286800	Bivalent Enhancer	Placenta	Placenta
49	chr1:113286400-113286800	Flanking Active TSS	Right Atrium	heart
50	chr1:113286400-113286800	Flanking Bivalent TSS/Enh	Osteobl	bone

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