Variant report

Variant	rs4857404
Chromosome Location	chr3:98309154-98309155
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	POLR2A	chr3:98308938-98309292	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98302949..98305459-chr3:98308547..98310946,2	K562	blood:

Variant related genes	Relation type
CPOX	TF binding region
ENSG00000080819	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10804679	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10935444	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11709315	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13063161	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34214978	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35282212	0.83[ASN][1000 genomes]
rs3804622	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4857405	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4857406	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv536661	chr3:98286588-98315764	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98287200-98310200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:98287400-98310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:98292400-98310400	Weak transcription	Small Intestine	intestine
4	chr3:98292400-98311000	Weak transcription	Fetal Brain Male	brain
5	chr3:98292600-98310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:98293000-98311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:98293200-98310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:98294400-98310400	Weak transcription	Colonic Mucosa	Colon
9	chr3:98294400-98311000	Weak transcription	Stomach Mucosa	stomach
10	chr3:98294800-98311000	Weak transcription	Esophagus	oesophagus
11	chr3:98295600-98309800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:98296000-98310200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:98296200-98310400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:98296400-98310000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:98296600-98311200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:98296800-98309600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:98296800-98310800	Weak transcription	NHLF	lung
18	chr3:98297000-98309600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:98297400-98310400	Weak transcription	Hela-S3	cervix
20	chr3:98298200-98310800	Weak transcription	HUVEC	blood vessel
21	chr3:98299600-98311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:98300000-98311200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:98301800-98310000	Strong transcription	Liver	Liver
24	chr3:98302000-98309800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:98302400-98310000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr3:98302400-98310200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:98302600-98309600	Strong transcription	Fetal Thymus	thymus
28	chr3:98302600-98310200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:98302600-98310200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:98303000-98309400	Strong transcription	Fetal Stomach	stomach
31	chr3:98303600-98310000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr3:98303800-98310200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:98304400-98311600	Weak transcription	Aorta	Aorta
34	chr3:98304600-98310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:98304600-98310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:98304600-98310600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:98304600-98310800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:98304600-98311400	Weak transcription	HSMMtube	muscle
39	chr3:98304800-98310000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:98304800-98310200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:98304800-98311000	Weak transcription	HSMM	muscle
42	chr3:98305000-98311600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:98305200-98311000	Weak transcription	Spleen	Spleen
44	chr3:98305200-98311600	Weak transcription	Gastric	stomach
45	chr3:98305400-98310000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:98305400-98311000	Weak transcription	Thymus	Thymus
47	chr3:98305600-98311000	Weak transcription	Right Ventricle	heart
48	chr3:98305800-98309400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:98305800-98310400	Weak transcription	Fetal Intestine Small	intestine
50	chr3:98306400-98309600	Strong transcription	Fetal Brain Female	brain

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