Variant report

Variant	rs10517345
Chromosome Location	chr4:56342821-56342822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1047343	1.00[AMR][1000 genomes]
rs11727248	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs1552522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085783	1.00[AMR][1000 genomes]
rs17085803	1.00[AMR][1000 genomes]
rs17085857	1.00[AMR][1000 genomes]
rs17085864	1.00[AMR][1000 genomes]
rs17085882	1.00[AMR][1000 genomes]
rs17085885	1.00[AMR][1000 genomes]
rs2412650	1.00[AMR][1000 genomes]
rs2899036	0.93[YRI][hapmap]
rs34028624	1.00[AMR][1000 genomes]
rs34822003	1.00[AMR][1000 genomes]
rs58578647	1.00[AMR][1000 genomes]
rs73151822	1.00[AMR][1000 genomes]
rs73151893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153661	1.00[AMR][1000 genomes]
rs73153688	1.00[AMR][1000 genomes]
rs73816271	1.00[AMR][1000 genomes]
rs73816274	1.00[AMR][1000 genomes]
rs7657206	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7659053	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7661096	1.00[AMR][1000 genomes]
rs7662129	1.00[AMR][1000 genomes]
rs7663749	1.00[AMR][1000 genomes]
rs7680836	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7686016	1.00[AMR][1000 genomes]
rs7696080	1.00[AMR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56293000-56354800	Weak transcription	Aorta	Aorta
2	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:56304600-56365600	Weak transcription	Spleen	Spleen
4	chr4:56304800-56375800	Weak transcription	Pancreas	Pancrea
5	chr4:56306000-56361200	Weak transcription	Stomach Mucosa	stomach
6	chr4:56314400-56356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:56314400-56377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:56315400-56357000	Weak transcription	Hela-S3	cervix
9	chr4:56318600-56363400	Weak transcription	HepG2	liver
10	chr4:56318800-56352400	Weak transcription	K562	blood
11	chr4:56318800-56358400	Weak transcription	Right Ventricle	heart
12	chr4:56326600-56343200	Strong transcription	Liver	Liver
13	chr4:56328600-56350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:56332600-56365600	Weak transcription	Esophagus	oesophagus
15	chr4:56332600-56377800	Weak transcription	Gastric	stomach
16	chr4:56336000-56376800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:56337400-56343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:56337400-56377000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:56337600-56354600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:56339800-56344000	Strong transcription	Placenta	Placenta
21	chr4:56340000-56345600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:56340200-56345200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:56341000-56354800	Weak transcription	Fetal Stomach	stomach
24	chr4:56341000-56363600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:56341200-56346400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:56341200-56356400	Weak transcription	Thymus	Thymus
27	chr4:56341400-56343000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:56341400-56343200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:56341400-56347000	Weak transcription	GM12878-XiMat	blood
30	chr4:56341400-56364200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:56341400-56365600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:56341400-56385600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:56341600-56343000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:56341600-56343800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:56341600-56344000	Weak transcription	Brain Germinal Matrix	brain
36	chr4:56341600-56352600	Weak transcription	Primary B cells from cord blood	blood
37	chr4:56341600-56354400	Weak transcription	Brain Angular Gyrus	brain
38	chr4:56341600-56354400	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:56341600-56354400	Weak transcription	Fetal Thymus	thymus
40	chr4:56341600-56354800	Weak transcription	Brain Anterior Caudate	brain
41	chr4:56341600-56355600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:56341600-56357600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:56341600-56358200	Weak transcription	Small Intestine	intestine
44	chr4:56341600-56358600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:56341600-56365800	Weak transcription	Lung	lung
46	chr4:56341600-56369200	Weak transcription	HSMMtube	muscle
47	chr4:56341600-56369400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:56341600-56377000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:56341800-56343800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:56341800-56343800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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