Variant report

Variant	rs10004511
Chromosome Location	chr4:186627441-186627442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10007109	0.98[ASN][1000 genomes]
rs10014995	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10017683	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10026539	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10031144	0.98[ASN][1000 genomes]
rs10434304	0.91[EUR][1000 genomes]
rs13115051	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13127592	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131969	0.99[ASN][1000 genomes]
rs13132598	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13140562	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13140699	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13140805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150700	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28367124	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28369184	0.98[ASN][1000 genomes]
rs28384265	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28523636	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28617776	0.81[ASN][1000 genomes]
rs28755896	0.80[AMR][1000 genomes]
rs34150318	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35803875	0.90[ASN][1000 genomes]
rs55889604	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56058454	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9991266	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][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	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186613600-186630800	Weak transcription	Right Atrium	heart
2	chr4:186615800-186629000	Weak transcription	HUVEC	blood vessel
3	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:186622200-186628400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:186622600-186637200	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:186622800-186628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:186623600-186633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:186624600-186629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:186625600-186633000	Weak transcription	Ovary	ovary
10	chr4:186626000-186627800	ZNF genes & repeats	Liver	Liver
11	chr4:186626000-186627800	ZNF genes & repeats	HepG2	liver
12	chr4:186626200-186629200	Weak transcription	Right Ventricle	heart
13	chr4:186626200-186631800	Weak transcription	Esophagus	oesophagus
14	chr4:186626400-186628400	Weak transcription	HSMMtube	muscle
15	chr4:186626400-186629000	Weak transcription	Left Ventricle	heart
16	chr4:186626400-186632200	Weak transcription	Aorta	Aorta
17	chr4:186626400-186633000	Weak transcription	Gastric	stomach
18	chr4:186626400-186633600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:186626800-186627800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr4:186626800-186628000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:186627000-186627800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr4:186627000-186627800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
23	chr4:186627000-186633000	Weak transcription	Fetal Stomach	stomach
24	chr4:186627200-186628400	Weak transcription	Fetal Heart	heart
25	chr4:186627200-186628600	Weak transcription	HSMM	muscle
26	chr4:186627200-186633000	Weak transcription	Pancreas	Pancrea
27	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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