Variant report

Variant	rs12532843
Chromosome Location	chr7:66407518-66407519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66384580..66387165-chr7:66405669..66409377,3	K562	blood:

Variant related genes	Relation type
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10232188	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10234322	0.89[AFR][1000 genomes]
rs10235334	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10235423	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235638	0.86[AFR][1000 genomes]
rs10236124	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10237309	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241528	0.89[AFR][1000 genomes]
rs10247591	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10250124	0.89[AFR][1000 genomes]
rs10250831	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10263993	0.83[AFR][1000 genomes]
rs10264223	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264873	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266792	0.80[AFR][1000 genomes]
rs10267922	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10269487	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10270138	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10275343	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10275956	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10279240	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281794	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10479729	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12531365	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532805	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532829	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533298	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533724	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12534188	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534948	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536003	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537176	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537474	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538038	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540371	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1589887	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138017	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17680606	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748115	0.80[AFR][1000 genomes]
rs2077180	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2091315	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293350	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28501161	0.80[AFR][1000 genomes]
rs28510688	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28524571	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28590087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28641990	0.80[AFR][1000 genomes]
rs28729561	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778914	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778916	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382352	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4617036	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4717326	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56743740	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59765110	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61554495	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465677	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465679	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465704	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62465717	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465731	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465735	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465746	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465749	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62465751	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465753	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62466579	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62466580	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73140000	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73143914	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143998	0.89[AFR][1000 genomes]
rs73151646	0.80[AFR][1000 genomes]
rs7777631	0.89[AFR][1000 genomes]
rs7785755	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv436556	chr7:66403338-66410081	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
2	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:66391200-66409800	Weak transcription	Brain Germinal Matrix	brain
4	chr7:66393400-66411800	Weak transcription	Stomach Mucosa	stomach
5	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
6	chr7:66394200-66408000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:66395800-66408000	Weak transcription	Esophagus	oesophagus
8	chr7:66395800-66412800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:66396000-66408200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:66396000-66409800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:66396000-66415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:66396800-66408000	Weak transcription	Small Intestine	intestine
13	chr7:66398400-66410000	Weak transcription	Right Ventricle	heart
14	chr7:66398800-66407800	Weak transcription	Psoas Muscle	Psoas
15	chr7:66398800-66409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:66398800-66409800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:66398800-66410000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:66398800-66415400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:66399200-66409600	Weak transcription	Aorta	Aorta
20	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:66401800-66408000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:66401800-66409400	Weak transcription	Fetal Lung	lung
23	chr7:66402000-66408200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:66402400-66424200	Strong transcription	Dnd41	blood
25	chr7:66402600-66414000	Strong transcription	Primary T cells from cord blood	blood
26	chr7:66403000-66424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:66403200-66409800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:66403200-66409800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:66403400-66408000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:66403400-66417000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:66403400-66417200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:66403400-66424400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:66403400-66426000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:66403400-66426400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:66403600-66411400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:66403600-66411400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr7:66403600-66417200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:66403600-66424600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:66403600-66425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:66403600-66426400	Strong transcription	Thymus	Thymus
41	chr7:66403600-66426600	Strong transcription	Fetal Stomach	stomach
42	chr7:66403800-66417200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:66403800-66418800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:66403800-66425200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:66403800-66425800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr7:66404000-66408800	Strong transcription	Primary B cells from cord blood	blood
47	chr7:66404000-66414000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:66404000-66414000	Strong transcription	K562	blood
49	chr7:66404000-66417400	Strong transcription	Lung	lung
50	chr7:66404600-66408000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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