Variant report

Variant	rs72993320
Chromosome Location	chr4:175237536-175237537
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	chr4:175236259..175238610-chr5:137804763..137806400,2	K562	blood:

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

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

rs_ID	r²[population]
rs1046702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050092	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17060418	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17060434	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17060436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17060455	1.00[ASN][1000 genomes]
rs17060459	1.00[ASN][1000 genomes]
rs17358230	0.84[EUR][1000 genomes]
rs72993311	1.00[ASN][1000 genomes]
rs72993312	0.90[ASN][1000 genomes]
rs72993314	1.00[ASN][1000 genomes]
rs7685970	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7699942	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 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	chr4:175206200-175241000	Weak transcription	Right Ventricle	heart
3	chr4:175206600-175237800	Weak transcription	Osteobl	bone
4	chr4:175206800-175241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:175207000-175239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:175207000-175240000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:175207000-175242000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:175214200-175239200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:175214600-175238000	Weak transcription	HMEC	breast
10	chr4:175214600-175238400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:175214600-175238800	Weak transcription	Aorta	Aorta
12	chr4:175214600-175239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:175214600-175239000	Weak transcription	HepG2	liver
14	chr4:175214600-175240000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:175214600-175240200	Weak transcription	Brain Angular Gyrus	brain
16	chr4:175214600-175240600	Weak transcription	Fetal Stomach	stomach
17	chr4:175214600-175241600	Weak transcription	Lung	lung
18	chr4:175214600-175241600	Weak transcription	Thymus	Thymus
19	chr4:175214600-175241800	Weak transcription	Pancreas	Pancrea
20	chr4:175214600-175242000	Weak transcription	Brain Substantia Nigra	brain
21	chr4:175214600-175243200	Weak transcription	Ovary	ovary
22	chr4:175214600-175244800	Weak transcription	Psoas Muscle	Psoas
23	chr4:175214600-175245400	Weak transcription	HSMM	muscle
24	chr4:175214600-175254800	Weak transcription	Esophagus	oesophagus
25	chr4:175214800-175239200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:175214800-175240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:175214800-175241200	Weak transcription	Brain Anterior Caudate	brain
28	chr4:175215200-175241600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:175215200-175242600	Weak transcription	GM12878-XiMat	blood
30	chr4:175217600-175241600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:175217800-175240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:175218600-175242000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:175219000-175239600	Weak transcription	Fetal Brain Female	brain
34	chr4:175219000-175242800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:175219600-175237800	Weak transcription	HUVEC	blood vessel
36	chr4:175221400-175239200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:175221600-175240600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:175222400-175242000	Weak transcription	Fetal Intestine Small	intestine
39	chr4:175222600-175241400	Weak transcription	Spleen	Spleen
40	chr4:175225000-175237600	Weak transcription	NH-A	brain
41	chr4:175225400-175241800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:175225800-175240800	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:175225800-175241600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:175227400-175238800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:175229200-175238000	Strong transcription	Primary B cells from cord blood	blood
46	chr4:175229600-175237600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:175230000-175245800	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:175230400-175239400	Weak transcription	Fetal Kidney	kidney
49	chr4:175230400-175240000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:175230600-175241600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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