Variant report

Variant	rs73153604
Chromosome Location	chr4:56340385-56340386
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57846771	0.95[AFR][1000 genomes]
rs59578853	1.00[AFR][1000 genomes]
rs61504068	0.89[AFR][1000 genomes]
rs73151898	1.00[AFR][1000 genomes]
rs73153642	0.95[AFR][1000 genomes]
rs73153673	0.89[AFR][1000 genomes]
rs73153678	0.84[AFR][1000 genomes]
rs73153684	0.89[AFR][1000 genomes]
rs73155674	0.89[AFR][1000 genomes]
rs73155701	0.95[AFR][1000 genomes]
rs7684048	0.89[AFR][1000 genomes]
rs7692737	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56290800-56340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:56290800-56340600	Weak transcription	Thymus	Thymus
3	chr4:56293000-56354800	Weak transcription	Aorta	Aorta
4	chr4:56294000-56341200	Weak transcription	Small Intestine	intestine
5	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:56304600-56365600	Weak transcription	Spleen	Spleen
7	chr4:56304800-56375800	Weak transcription	Pancreas	Pancrea
8	chr4:56306000-56361200	Weak transcription	Stomach Mucosa	stomach
9	chr4:56307600-56340400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:56308800-56340400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:56314400-56340800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:56314400-56356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:56314400-56377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:56315000-56340600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:56315000-56340600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:56315400-56357000	Weak transcription	Hela-S3	cervix
17	chr4:56315800-56341000	Weak transcription	Colonic Mucosa	Colon
18	chr4:56316200-56340400	Weak transcription	Fetal Heart	heart
19	chr4:56317200-56340400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:56318600-56363400	Weak transcription	HepG2	liver
21	chr4:56318800-56340400	Weak transcription	HSMMtube	muscle
22	chr4:56318800-56352400	Weak transcription	K562	blood
23	chr4:56318800-56358400	Weak transcription	Right Ventricle	heart
24	chr4:56321800-56341200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:56323400-56340400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:56325200-56340400	Weak transcription	NHLF	lung
27	chr4:56325400-56340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr4:56325400-56340400	Weak transcription	NH-A	brain
29	chr4:56326600-56343200	Strong transcription	Liver	Liver
30	chr4:56327000-56340400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:56328600-56350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:56330800-56340600	Weak transcription	Brain Angular Gyrus	brain
33	chr4:56331000-56340400	Weak transcription	Brain Anterior Caudate	brain
34	chr4:56332200-56341400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:56332400-56340400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:56332400-56340600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:56332600-56340400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:56332600-56341000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:56332600-56365600	Weak transcription	Esophagus	oesophagus
40	chr4:56332600-56377800	Weak transcription	Gastric	stomach
41	chr4:56333000-56340600	Weak transcription	Psoas Muscle	Psoas
42	chr4:56335000-56342800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:56335200-56340600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:56335200-56340800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:56335400-56340400	Weak transcription	Ovary	ovary
46	chr4:56335800-56340400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:56335800-56340800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:56336000-56340400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:56336000-56376800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:56336200-56340600	Weak transcription	Fetal Intestine Small	intestine

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