Variant report

Variant	rs6844546
Chromosome Location	chr4:152074760-152074761
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10020317	0.95[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10461253	0.83[AFR][1000 genomes]
rs11734577	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11934792	0.81[ASN][1000 genomes]
rs12505974	0.83[AFR][1000 genomes]
rs12648512	0.94[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13122245	0.86[AFR][1000 genomes]
rs2407431	0.81[ASN][1000 genomes]
rs2407438	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3792611	0.90[AFR][1000 genomes]
rs4696658	0.83[AFR][1000 genomes]
rs6846323	0.90[AFR][1000 genomes]
rs6846981	0.90[AFR][1000 genomes]
rs7664483	0.89[AFR][1000 genomes]
rs7669180	0.90[AFR][1000 genomes]
rs7691584	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised 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	38 gene(s)	inside rSNPs	diseases
4	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
8	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
11	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152025200-152085400	Weak transcription	Hela-S3	cervix
2	chr4:152027000-152086600	Weak transcription	Fetal Kidney	kidney
3	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
4	chr4:152043400-152095800	Weak transcription	Placenta	Placenta
5	chr4:152047400-152087800	Weak transcription	Psoas Muscle	Psoas
6	chr4:152050600-152087000	Weak transcription	HSMMtube	muscle
7	chr4:152051600-152087200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
9	chr4:152059200-152087000	Weak transcription	Fetal Heart	heart
10	chr4:152059400-152074800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:152062000-152074800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:152062200-152083800	Weak transcription	Brain Substantia Nigra	brain
13	chr4:152062200-152090000	Weak transcription	Brain Anterior Caudate	brain
14	chr4:152064200-152087400	Weak transcription	A549	lung
15	chr4:152065000-152091800	Weak transcription	HMEC	breast
16	chr4:152065400-152087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:152065600-152089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:152065800-152086600	Weak transcription	NHLF	lung
19	chr4:152065800-152086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:152066000-152087000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:152066000-152095200	Weak transcription	Esophagus	oesophagus
22	chr4:152066200-152092600	Weak transcription	Colonic Mucosa	Colon
23	chr4:152066200-152095800	Weak transcription	Gastric	stomach
24	chr4:152066400-152095800	Weak transcription	Aorta	Aorta
25	chr4:152066600-152083800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:152066600-152083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:152067000-152083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:152067000-152083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:152067000-152090000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:152068600-152083800	Weak transcription	NHEK	skin
31	chr4:152069200-152090000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:152069400-152090000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:152069600-152078000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:152069600-152083800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:152069600-152083800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:152069600-152086400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:152069600-152087800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:152069600-152087800	Weak transcription	Right Ventricle	heart
39	chr4:152069600-152087800	Weak transcription	HSMM	muscle
40	chr4:152069600-152089200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:152069800-152077800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:152069800-152078600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:152069800-152083400	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:152069800-152085200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:152069800-152087200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:152070400-152079200	Weak transcription	NHDF-Ad	bronchial
47	chr4:152070600-152076000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:152070600-152083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:152070800-152076000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:152070800-152076000	Weak transcription	Liver	Liver

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