Variant report

Variant	rs12537604
Chromosome Location	chr7:129550461-129550462
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	chr7:129543014..129545443-chr7:129549308..129551080,2	K562	blood:
2	chr7:129547818..129550816-chr7:129688251..129690388,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12530557	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531622	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531936	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532612	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532959	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533033	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533290	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12533464	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533528	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533953	0.85[EUR][1000 genomes]
rs12534043	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534061	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12534320	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535347	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535722	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535728	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12535857	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536424	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12536978	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537150	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537336	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537576	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537660	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537782	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538787	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539145	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539653	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539800	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540479	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540517	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12540541	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12690	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464970	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464971	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464972	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471874	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1471877	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17559301	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1965567	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1965568	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631601	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2727457	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34930431	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189138	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55675451	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55732825	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735840	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748031	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55767113	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55769831	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55772531	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55798026	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55809128	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56022754	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56025626	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56034137	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080853	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56085705	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56094908	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56117230	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56153730	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56167610	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56176516	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56191413	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56321762	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56332361	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56333543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376893	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56381627	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56408895	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs718925	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718926	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr7:129516200-129584400	Weak transcription	Fetal Brain Male	brain
2	chr7:129518200-129557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129518200-129564600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:129520800-129551200	Weak transcription	Placenta	Placenta
5	chr7:129529800-129553400	Weak transcription	Brain Germinal Matrix	brain
6	chr7:129530000-129587600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:129537000-129554800	Weak transcription	NHDF-Ad	bronchial
8	chr7:129537200-129552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:129539600-129554800	Weak transcription	Dnd41	blood
10	chr7:129541000-129552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:129541400-129551800	Weak transcription	NHLF	lung
12	chr7:129541800-129559200	Weak transcription	Esophagus	oesophagus
13	chr7:129543000-129553600	Weak transcription	Gastric	stomach
14	chr7:129544600-129551200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:129544800-129559400	Weak transcription	Lung	lung
16	chr7:129545400-129553600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:129545800-129550600	Weak transcription	Thymus	Thymus
18	chr7:129545800-129551400	Weak transcription	NHEK	skin
19	chr7:129545800-129553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:129546600-129550600	Weak transcription	Fetal Intestine Large	intestine
21	chr7:129547000-129552400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:129547000-129557200	Weak transcription	Colonic Mucosa	Colon
23	chr7:129547000-129563600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:129547200-129550800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:129547200-129554200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:129547400-129550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:129547400-129551400	Weak transcription	GM12878-XiMat	blood
28	chr7:129547400-129553200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:129547400-129553400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:129547400-129553400	Weak transcription	Right Atrium	heart
31	chr7:129547400-129554600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:129547400-129554600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:129547400-129557000	Weak transcription	Fetal Lung	lung
34	chr7:129547400-129563600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:129547400-129576800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:129547600-129550800	Weak transcription	Adipose Nuclei	Adipose
37	chr7:129547600-129551000	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:129547600-129553400	Weak transcription	Aorta	Aorta
39	chr7:129547600-129554400	Weak transcription	Fetal Kidney	kidney
40	chr7:129547600-129555600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:129547600-129558400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:129547800-129552600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:129547800-129553800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:129548000-129553400	Weak transcription	Right Ventricle	heart
45	chr7:129548000-129557600	Weak transcription	HepG2	liver
46	chr7:129548400-129551600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:129548400-129551800	Weak transcription	HMEC	breast
48	chr7:129548400-129553800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:129548400-129554200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:129548400-129562600	Weak transcription	Hela-S3	cervix

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