Variant report

Variant	rs12028087
Chromosome Location	chr1:165706950-165706951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165706758..165709528-chr1:165795041..165797748,2	K562	blood:
2	chr1:165706527..165709432-chr1:165711887..165713533,2	K562	blood:
3	chr1:165701078..165702896-chr1:165706943..165709704,2	K562	blood:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10918266	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10918276	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12723198	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14223	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913846	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2814470	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4366297	0.80[ASN][1000 genomes]
rs4657470	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6426937	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6426940	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6670705	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6679238	0.83[ASN][1000 genomes]
rs7411708	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7512095	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540840	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
4	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:165687800-165707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:165690200-165710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:165691000-165710000	Weak transcription	Fetal Kidney	kidney
9	chr1:165693400-165709600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:165694000-165708600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:165694000-165709800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:165694000-165709800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:165694000-165711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:165694200-165709800	Weak transcription	Colonic Mucosa	Colon
15	chr1:165694200-165709800	Weak transcription	Pancreas	Pancrea
16	chr1:165694200-165709800	Weak transcription	Spleen	Spleen
17	chr1:165694200-165710000	Weak transcription	NHEK	skin
18	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
19	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
20	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:165694600-165709800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:165694600-165711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:165694600-165711000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:165694800-165709800	Weak transcription	Small Intestine	intestine
26	chr1:165695600-165708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:165695600-165709800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:165695800-165712000	Weak transcription	Psoas Muscle	Psoas
29	chr1:165696000-165709800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:165696000-165721600	Weak transcription	Gastric	stomach
31	chr1:165696400-165709200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:165696800-165709800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:165696800-165709800	Weak transcription	Brain Germinal Matrix	brain
34	chr1:165696800-165709800	Weak transcription	NHLF	lung
35	chr1:165697200-165709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:165697200-165710400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:165697400-165708400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:165697400-165709000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:165697400-165709600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:165697400-165709800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:165697400-165709800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:165697400-165709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:165697400-165709800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:165697400-165709800	Weak transcription	HMEC	breast
45	chr1:165697400-165709800	Weak transcription	HSMMtube	muscle
46	chr1:165697400-165710000	Weak transcription	NHDF-Ad	bronchial
47	chr1:165697600-165707400	Weak transcription	Hela-S3	cervix
48	chr1:165697600-165709800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:165698000-165709800	Weak transcription	Brain Anterior Caudate	brain
50	chr1:165698000-165709800	Weak transcription	Placenta	Placenta

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