Variant report

Variant	rs72702089
Chromosome Location	chr4:186650984-186650985
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186642283..186645621-chr4:186649150..186653147,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13149134	1.00[ASN][1000 genomes]
rs34088679	1.00[ASN][1000 genomes]
rs34636498	1.00[ASN][1000 genomes]
rs35410654	1.00[ASN][1000 genomes]
rs35651701	1.00[ASN][1000 genomes]
rs35837246	1.00[ASN][1000 genomes]
rs4862563	1.00[ASN][1000 genomes]
rs55915443	1.00[ASN][1000 genomes]
rs72702052	1.00[ASN][1000 genomes]
rs72702053	1.00[ASN][1000 genomes]
rs72702054	1.00[ASN][1000 genomes]
rs72702055	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186630000-186651600	Weak transcription	HSMM	muscle
3	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:186638600-186651600	Weak transcription	Psoas Muscle	Psoas
5	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
6	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:186641400-186651600	Weak transcription	Right Ventricle	heart
8	chr4:186642200-186651600	Weak transcription	Spleen	Spleen
9	chr4:186642800-186651600	Weak transcription	Lung	lung
10	chr4:186642800-186657800	Weak transcription	Gastric	stomach
11	chr4:186643000-186651600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:186643000-186654000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:186643400-186651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:186643800-186657800	Weak transcription	Fetal Brain Female	brain
15	chr4:186644800-186651800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:186645200-186651600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:186645400-186651800	Weak transcription	Stomach Mucosa	stomach
18	chr4:186645600-186651600	Weak transcription	GM12878-XiMat	blood
19	chr4:186645800-186651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:186645800-186651600	Weak transcription	Right Atrium	heart
21	chr4:186645800-186651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:186646000-186651600	Weak transcription	Ovary	ovary
23	chr4:186646800-186653600	Weak transcription	HepG2	liver
24	chr4:186647000-186651000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:186648400-186651200	Weak transcription	Fetal Stomach	stomach
26	chr4:186648400-186658800	Weak transcription	Brain Germinal Matrix	brain
27	chr4:186648600-186651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:186648600-186651600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:186648600-186651800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:186648600-186652400	Weak transcription	Fetal Brain Male	brain
31	chr4:186649000-186651600	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:186649000-186651800	Weak transcription	Brain Anterior Caudate	brain
33	chr4:186649200-186653600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:186649200-186659000	Weak transcription	Fetal Kidney	kidney
35	chr4:186649600-186651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:186649600-186652200	Enhancers	HUVEC	blood vessel
37	chr4:186649800-186651000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr4:186649800-186652400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:186650000-186651000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:186650200-186651600	Weak transcription	Placenta	Placenta
41	chr4:186650200-186651600	Weak transcription	Pancreas	Pancrea
42	chr4:186650200-186652400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:186650200-186652400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:186650200-186652400	Enhancers	NHDF-Ad	bronchial
45	chr4:186650200-186653600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:186650400-186651000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:186650400-186651600	Weak transcription	HSMMtube	muscle
48	chr4:186650600-186651000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:186650600-186652400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:186650600-186652600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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