Variant report

Variant	rs16840961
Chromosome Location	chr4:7740470-7740471
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7738338..7740956-chr4:7755052..7757253,2	K562	blood:
2	chr4:7739904..7741898-chr4:7754670..7757440,2	K562	blood:

Variant related genes	Relation type
ENSG00000272620	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11733177	1.00[CHB][hapmap]
rs11930623	1.00[CHB][hapmap]
rs12500566	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12507674	1.00[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs16840950	0.88[EUR][1000 genomes]
rs17177064	1.00[CHB][hapmap]
rs17771470	1.00[CHB][hapmap]
rs2285773	1.00[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2285775	0.81[EUR][1000 genomes]
rs28744611	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3944126	0.84[EUR][1000 genomes]
rs4689845	1.00[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs4689846	1.00[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs73794751	0.83[EUR][1000 genomes]
rs73794752	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv878574	chr4:7715181-7751894	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv878576	chr4:7720919-7746820	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3356785	chr4:7738702-7741200	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers	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	chr4:7724800-7744600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:7726600-7757200	Weak transcription	Fetal Brain Female	brain
3	chr4:7739000-7740600	Strong transcription	Brain Angular Gyrus	brain
4	chr4:7739000-7742000	Strong transcription	Ovary	ovary
5	chr4:7739400-7740600	ZNF genes & repeats	Pancreas	Pancrea
6	chr4:7739600-7741400	Strong transcription	Brain Cingulate Gyrus	brain
7	chr4:7739800-7740800	Strong transcription	Brain Inferior Temporal Lobe	brain
8	chr4:7739800-7741400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:7739800-7741400	Strong transcription	Brain Germinal Matrix	brain
10	chr4:7739800-7741400	Strong transcription	Fetal Muscle Leg	muscle
11	chr4:7739800-7742800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:7739800-7745000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:7739800-7745000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:7740000-7741000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:7740200-7741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:7740200-7743600	Strong transcription	Fetal Stomach	stomach
17	chr4:7740200-7765000	Weak transcription	Aorta	Aorta
18	chr4:7740400-7743200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:7740400-7744600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:7740400-7745000	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:7740400-7745400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:7740400-7745800	Weak transcription	Esophagus	oesophagus
23	chr4:7740400-7746400	Weak transcription	Colonic Mucosa	Colon

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