Variant report

Variant	rs174673
Chromosome Location	chr22:19933778-19933779
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	USF1	chr22:19933388-19933780	K562	blood:	n/a	chr22:19933693-19933704
2	USF1	chr22:19933475-19933989	K562	blood:	n/a	chr22:19933693-19933704
3	POLR2A	chr22:19933624-19934006	HepG2	liver:	n/a	n/a
4	USF2	chr22:19933610-19933840	Hela-S3	cervix:	n/a	chr22:19933693-19933704

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:19928283..19930112-chr22:19933722..19937273,3	MCF-7	breast:
2	chr22:19927953..19930298-chr22:19931005..19934180,3	MCF-7	breast:

Variant related genes	Relation type
TXNRD2	TF binding region
COMT	TF binding region
ENSG00000184470	Chromatin interaction
ENSG00000093010	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483103	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12483995	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs165879	0.98[AMR][1000 genomes]
rs17210001	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs174683	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174684	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174685	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174686	0.91[AMR][1000 genomes]
rs174687	0.94[AMR][1000 genomes]
rs174689	1.00[AMR][1000 genomes]
rs2871046	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2871047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3788310	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	nsv914279	chr22:19638044-19954458	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
6	nsv1064992	chr22:19691720-20246906	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
7	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv588237	chr22:19749525-20306993	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
9	nsv1065963	chr22:19779317-20027562	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
10	nsv544580	chr22:19779317-20027562	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
11	nsv949462	chr22:19840196-20214783	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
12	nsv1065367	chr22:19856610-20127323	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
13	nsv469641	chr22:19879185-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
14	nsv482484	chr22:19879185-20055258	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
15	nsv834131	chr22:19879186-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	123 gene(s)	inside rSNPs	diseases
16	nsv834132	chr22:19887966-20069970	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
17	nsv588238	chr22:19898886-19937638	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv914306	chr22:19900075-19983014	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
19	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
20	nsv914307	chr22:19924021-19952132	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
21	nsv914308	chr22:19924021-19977647	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:19930800-19935000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:19930800-19936800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:19930800-19946400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:19931000-19935200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:19931200-19935000	Weak transcription	A549	lung
6	chr22:19931400-19935000	Weak transcription	Fetal Kidney	kidney
7	chr22:19931400-19935000	Weak transcription	Hela-S3	cervix
8	chr22:19931400-19936800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:19931400-19940600	Weak transcription	Esophagus	oesophagus
10	chr22:19931400-19940600	Weak transcription	Gastric	stomach
11	chr22:19931400-19946400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:19931400-19946400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:19931400-19954200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:19931400-19955200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr22:19931600-19934800	Weak transcription	Brain Angular Gyrus	brain
16	chr22:19931600-19935000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:19931600-19935000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:19931600-19935000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:19931600-19935000	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:19931600-19935000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:19931600-19935000	Weak transcription	Brain Substantia Nigra	brain
22	chr22:19931600-19935000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:19931600-19935000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr22:19931600-19935000	Weak transcription	Right Atrium	heart
25	chr22:19931600-19935000	Weak transcription	Stomach Mucosa	stomach
26	chr22:19931600-19935200	Weak transcription	HMEC	breast
27	chr22:19931600-19936600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:19931600-19936600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:19931600-19938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:19931600-19946400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:19931600-19946400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:19931600-19946600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr22:19931600-19947200	Weak transcription	Primary T cells from cord blood	blood
34	chr22:19931800-19933800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr22:19931800-19934000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr22:19931800-19934200	Weak transcription	HUVEC	blood vessel
37	chr22:19931800-19934600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr22:19931800-19934600	Weak transcription	Left Ventricle	heart
39	chr22:19931800-19934600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr22:19931800-19934600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:19931800-19934800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr22:19931800-19934800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:19931800-19934800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:19931800-19934800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:19931800-19934800	Weak transcription	Liver	Liver
46	chr22:19931800-19934800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:19931800-19934800	Weak transcription	Colon Smooth Muscle	Colon
48	chr22:19931800-19934800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:19931800-19934800	Weak transcription	Fetal Intestine Large	intestine
50	chr22:19931800-19934800	Weak transcription	Fetal Intestine Small	intestine

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