Variant report

Variant	rs12503512
Chromosome Location	chr4:7779386-7779387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7769826..7772813-chr4:7778014..7779534,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10000569	0.83[ASN][1000 genomes]
rs10004558	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022249	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025396	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031989	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050114	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155361	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10937858	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937860	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10937862	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11944501	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501412	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504177	0.81[EUR][1000 genomes]
rs16841116	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841207	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28406288	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429656	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28726367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28735524	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28759100	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689857	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689858	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689861	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6856818	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73206599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208810	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active 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	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
5	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
7	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
8	chr4:7760000-7783200	Strong transcription	HSMM	muscle
9	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:7760400-7780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:7760600-7780000	Weak transcription	Right Atrium	heart
12	chr4:7761000-7780400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
17	chr4:7765000-7780000	Strong transcription	Lung	lung
18	chr4:7766000-7780600	Strong transcription	Osteobl	bone
19	chr4:7766800-7781200	Strong transcription	HUVEC	blood vessel
20	chr4:7767200-7780800	Strong transcription	NH-A	brain
21	chr4:7767600-7781000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr4:7769000-7780200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:7771600-7780800	Strong transcription	Pancreas	Pancrea
25	chr4:7771800-7780200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:7772000-7783000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:7772800-7780400	Weak transcription	Brain Angular Gyrus	brain
28	chr4:7773600-7782800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:7773600-7783000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:7773600-7783600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:7773800-7779400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:7773800-7783400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:7774000-7782800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:7774000-7783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:7774200-7781600	Strong transcription	A549	lung
36	chr4:7774400-7780600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:7774400-7781000	Weak transcription	Fetal Heart	heart
38	chr4:7774600-7780200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:7774600-7783000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:7774600-7783400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:7775000-7780600	Strong transcription	Adipose Nuclei	Adipose
42	chr4:7775200-7779400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:7775200-7779800	Strong transcription	NHLF	lung
44	chr4:7775200-7782400	Strong transcription	Placenta	Placenta
45	chr4:7775400-7780400	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:7775400-7780800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:7775400-7783400	Weak transcription	Small Intestine	intestine
48	chr4:7775600-7780000	Strong transcription	Fetal Stomach	stomach
49	chr4:7775800-7779400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:7775800-7780000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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