Variant report

Variant	rs62147727
Chromosome Location	chr2:73237356-73237357
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73236536..73238840-chr2:73240454..73241990,2	MCF-7	breast:
2	chr2:73232496..73234923-chr2:73234961..73237623,2	K562	blood:
3	chr2:73235057..73237061-chr2:73237071..73239459,2	K562	blood:
4	chr2:73231481..73233996-chr2:73235137..73237623,2	K562	blood:
5	chr2:73237245..73240239-chr2:73244780..73247411,3	K562	blood:
6	chr2:73237116..73240504-chr2:73244131..73248288,4	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1046183	0.90[AFR][1000 genomes]
rs10496188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13404068	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17008541	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17008565	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17008579	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008608	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421099	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs3849393	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58469852	0.83[AFR][1000 genomes]
rs58731407	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59108557	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59802755	0.81[AFR][1000 genomes]
rs61164794	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61652727	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62147718	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62147722	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62147726	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147728	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147731	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147733	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147735	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147756	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62148129	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62148130	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66570372	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710911	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6753054	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6753133	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6753301	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67673165	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
5	chr2:73212200-73247400	Weak transcription	HSMMtube	muscle
6	chr2:73212800-73238800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:73214000-73238400	Weak transcription	Fetal Lung	lung
8	chr2:73214200-73247800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
10	chr2:73215800-73247400	Weak transcription	Thymus	Thymus
11	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:73216200-73248800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:73217400-73249000	Weak transcription	Ovary	ovary
14	chr2:73217800-73237400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:73220600-73249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:73226200-73248800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:73227600-73249000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:73227800-73240800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:73227800-73240800	Weak transcription	HSMM	muscle
24	chr2:73227800-73241000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:73227800-73241000	Weak transcription	NHLF	lung
26	chr2:73227800-73241400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:73227800-73248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:73228000-73245800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:73228000-73248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:73228400-73247400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:73228600-73248200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:73228800-73248600	Weak transcription	Placenta	Placenta
33	chr2:73230800-73245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:73231000-73247400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:73233600-73240200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:73234400-73237800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:73234600-73237600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:73234600-73237800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:73234800-73237800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:73235000-73237600	Strong transcription	Osteobl	bone
42	chr2:73235000-73239200	Weak transcription	HUVEC	blood vessel
43	chr2:73235400-73237400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:73235600-73237600	Strong transcription	Liver	Liver
45	chr2:73235800-73247400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:73236000-73248600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:73236000-73264200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:73236200-73237600	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:73236200-73247400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:73236400-73247600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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