Variant report

Variant	rs12758768
Chromosome Location	chr1:85835206-85835207
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	chr1:85832497..85835404-chr1:85838453..85841129,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10782550	0.85[ASN][1000 genomes]
rs11161597	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161599	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161614	0.85[EUR][1000 genomes]
rs11801146	0.82[ASN][1000 genomes]
rs12118950	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12120551	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12122816	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123745	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125900	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12128907	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12129502	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12130145	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130380	0.84[EUR][1000 genomes]
rs12130591	0.90[ASN][1000 genomes]
rs12131926	0.87[EUR][1000 genomes]
rs12132677	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133722	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12135333	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12138621	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12138852	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12139958	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140170	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12140272	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12140457	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12140935	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12717763	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724823	0.90[ASN][1000 genomes]
rs12736004	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12743049	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12758237	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1498374	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1608536	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17384381	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17388521	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076699	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300639	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300640	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28529751	0.90[ASN][1000 genomes]
rs34561661	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35193119	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35240561	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35761966	0.90[ASN][1000 genomes]
rs36110608	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768223	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71652696	0.93[AMR][1000 genomes];0.92[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
3	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
4	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:85823200-85836800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
7	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
8	chr1:85827000-85837800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:85827200-85836800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:85827600-85836800	Weak transcription	HepG2	liver
13	chr1:85828000-85838800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:85829400-85836800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:85829400-85838400	Weak transcription	Fetal Kidney	kidney
16	chr1:85829600-85839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:85830000-85835600	Weak transcription	Psoas Muscle	Psoas
18	chr1:85831600-85836800	Weak transcription	Small Intestine	intestine
19	chr1:85831800-85836800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:85832200-85836600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:85832600-85835600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85832800-85836400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:85832800-85838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:85832800-85838800	Weak transcription	HSMMtube	muscle
25	chr1:85832800-85839600	Weak transcription	HMEC	breast
26	chr1:85833000-85836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85833000-85838400	Weak transcription	NHEK	skin
28	chr1:85833200-85836600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:85833200-85837000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:85833400-85836800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:85833400-85839000	Weak transcription	NH-A	brain
32	chr1:85834000-85835600	Enhancers	Liver	Liver
33	chr1:85834000-85836200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:85834200-85836800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:85834200-85839000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:85834400-85835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:85834400-85838000	Weak transcription	NHLF	lung
38	chr1:85834400-85838200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
40	chr1:85834600-85835800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:85834600-85835800	Weak transcription	NHDF-Ad	bronchial
42	chr1:85834600-85836800	Weak transcription	HUVEC	blood vessel
43	chr1:85834600-85838400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:85834800-85836000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:85834800-85836000	Weak transcription	Osteobl	bone
46	chr1:85834800-85838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
48	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:85835000-85835400	Enhancers	A549	lung
50	chr1:85835000-85835400	Strong transcription	HSMM	muscle

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