Variant report

Variant	rs72702258
Chromosome Location	chr4:175227273-175227274
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	chr4:175222302..175225291-chr4:175225581..175228426,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11555602	1.00[ASN][1000 genomes]
rs14278	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17060445	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67875138	1.00[ASN][1000 genomes]
rs67936635	1.00[ASN][1000 genomes]
rs72702219	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72702220	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72702225	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72702227	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72702230	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72702234	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702236	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702242	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702244	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702246	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702249	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702250	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73009476	1.00[ASN][1000 genomes]
rs7656298	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681841	1.00[ASN][1000 genomes]
rs7692518	0.86[AMR][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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175205600-175241600	Weak transcription	Small Intestine	intestine
2	chr4:175206000-175235000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
4	chr4:175206400-175228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:175206600-175237800	Weak transcription	Osteobl	bone
6	chr4:175206800-175229200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:175207000-175239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:175207000-175240000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:175214200-175239200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:175214600-175228400	Weak transcription	Left Ventricle	heart
13	chr4:175214600-175229000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:175214600-175230000	Weak transcription	Fetal Lung	lung
15	chr4:175214600-175230200	Weak transcription	Fetal Brain Male	brain
16	chr4:175214600-175233600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:175214600-175236000	Weak transcription	A549	lung
18	chr4:175214600-175237200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:175214600-175237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:175214600-175238000	Weak transcription	HMEC	breast
21	chr4:175214600-175238400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:175214600-175238800	Weak transcription	Aorta	Aorta
23	chr4:175214600-175239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:175214600-175239000	Weak transcription	HepG2	liver
25	chr4:175214600-175240000	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:175214600-175240200	Weak transcription	Brain Angular Gyrus	brain
27	chr4:175214600-175240600	Weak transcription	Fetal Stomach	stomach
28	chr4:175214600-175241600	Weak transcription	Lung	lung
29	chr4:175214600-175241600	Weak transcription	Thymus	Thymus
30	chr4:175214600-175241800	Weak transcription	Pancreas	Pancrea
31	chr4:175214600-175242000	Weak transcription	Brain Substantia Nigra	brain
32	chr4:175214600-175243200	Weak transcription	Ovary	ovary
33	chr4:175214600-175244800	Weak transcription	Psoas Muscle	Psoas
34	chr4:175214600-175245400	Weak transcription	HSMM	muscle
35	chr4:175214600-175254800	Weak transcription	Esophagus	oesophagus
36	chr4:175214800-175232000	Weak transcription	NHDF-Ad	bronchial
37	chr4:175214800-175239200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:175214800-175240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:175214800-175241200	Weak transcription	Brain Anterior Caudate	brain
40	chr4:175215000-175228800	Weak transcription	Fetal Kidney	kidney
41	chr4:175215000-175235800	Weak transcription	Hela-S3	cervix
42	chr4:175215200-175241600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:175215200-175242600	Weak transcription	GM12878-XiMat	blood
44	chr4:175217600-175231000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:175217600-175232400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:175217600-175241600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:175217800-175240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:175218600-175242000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:175219000-175239600	Weak transcription	Fetal Brain Female	brain
50	chr4:175219000-175242800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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