Variant report

Variant	rs7512095
Chromosome Location	chr1:165721223-165721224
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	chr1:165719684..165722558-chr1:165723344..165727845,5	K562	blood:
2	chr1:165720854..165729861-chr1:165736355..165740477,8	K562	blood:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10918266	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918276	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12028087	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12723198	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs14223	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1913846	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814470	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4657470	0.86[EUR][1000 genomes]
rs6426937	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6426940	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6670705	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7411708	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7540840	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	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
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
4	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
5	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:165696000-165721600	Weak transcription	Gastric	stomach
8	chr1:165699800-165721600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:165707600-165721600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:165708200-165721600	Weak transcription	Right Atrium	heart
12	chr1:165708800-165721600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:165710400-165721600	Weak transcription	Stomach Mucosa	stomach
14	chr1:165710400-165727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:165711200-165721600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:165711200-165721600	Weak transcription	Fetal Heart	heart
17	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:165711400-165722000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:165712000-165721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:165712000-165721600	Weak transcription	Pancreas	Pancrea
21	chr1:165712000-165721600	Weak transcription	Right Ventricle	heart
22	chr1:165712200-165721600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:165712200-165721600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:165712200-165721600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:165712200-165721600	Weak transcription	Brain Substantia Nigra	brain
26	chr1:165712200-165721600	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:165712200-165721600	Weak transcription	Left Ventricle	heart
28	chr1:165712200-165721600	Weak transcription	Psoas Muscle	Psoas
29	chr1:165712200-165721600	Weak transcription	Spleen	Spleen
30	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:165712400-165721600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:165712400-165721600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:165712400-165721600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:165712400-165721600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:165712400-165721600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:165712400-165722000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:165712400-165726800	Weak transcription	Fetal Lung	lung
38	chr1:165712400-165727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:165712400-165727200	Weak transcription	HMEC	breast
40	chr1:165712600-165721600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:165712600-165721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:165712600-165721600	Weak transcription	Fetal Brain Male	brain
43	chr1:165712600-165721600	Weak transcription	Ovary	ovary
44	chr1:165712600-165722000	Weak transcription	Brain Germinal Matrix	brain
45	chr1:165712600-165722600	Weak transcription	HUVEC	blood vessel
46	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
47	chr1:165712800-165721600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:165712800-165721600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:165712800-165721600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:165712800-165721600	Weak transcription	Rectal Smooth Muscle	rectum

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