Variant report

Variant	rs71352990
Chromosome Location	chr19:35887083-35887084
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	FOXA1	chr19:35886776-35887192	HepG2	liver:	n/a	n/a
2	FOXA1	chr19:35886811-35887164	HepG2	liver:	n/a	n/a
3	SETDB1	chr19:35886844-35887141	U2OS	brain:	n/a	n/a
4	FOXA2	chr19:35886886-35887183	HepG2	liver:	n/a	n/a
5	KAP1	chr19:35886670-35887171	HEK293	kidney:	n/a	n/a
6	FOXA1	chr19:35886779-35887348	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:35886903-35887125	HepG2	liver:	n/a	n/a
8	MAFF	chr19:35886887-35887083	HepG2	liver:	n/a	n/a
9	KAP1	chr19:35886680-35887165	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35881601..35884861-chr19:35885155..35888151,3	K562	blood:

Variant related genes	Relation type
ENSG00000205786	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12608520	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12608942	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609641	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12609661	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12610119	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12610992	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611325	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12972897	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12975528	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12977409	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12980178	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34465330	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34746896	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35163547	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218044	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35371131	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35410394	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35487056	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36005447	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806147	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68149281	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71352985	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71352987	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71352988	0.85[EUR][1000 genomes]
rs7247482	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254239	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7343167	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS 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	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active 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	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv2471	chr19:35837405-35903115	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv833811	chr19:35850257-36029535	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv911625	chr19:35856925-35890205	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911626	chr19:35856925-35896467	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv911627	chr19:35856925-35921266	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv9714	chr19:35884836-35887576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35884200-35890800	Weak transcription	Right Atrium	heart
2	chr19:35886000-35887600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:35886200-35887800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:35886200-35887800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:35886600-35887200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr19:35886600-35887200	Enhancers	Fetal Lung	lung
7	chr19:35886600-35887200	Enhancers	Placenta	Placenta
8	chr19:35886600-35887200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr19:35886600-35887200	Enhancers	Stomach Mucosa	stomach
10	chr19:35886600-35887200	Enhancers	GM12878-XiMat	blood
11	chr19:35886600-35887600	Enhancers	Fetal Intestine Small	intestine
12	chr19:35886600-35887600	Enhancers	Pancreas	Pancrea
13	chr19:35886600-35888000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr19:35886800-35887200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr19:35886800-35887200	Enhancers	Brain Cingulate Gyrus	brain
16	chr19:35886800-35887200	Enhancers	Brain Substantia Nigra	brain
17	chr19:35886800-35887200	Enhancers	Spleen	Spleen
18	chr19:35886800-35899200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:35887000-35887200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:35887000-35887600	Enhancers	HepG2	liver
21	chr19:35887000-35887800	Weak transcription	Fetal Intestine Large	intestine
22	chr19:35887000-35894600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:35887000-35896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links