Variant report

Variant	rs12502295
Chromosome Location	chr4:186535247-186535248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186525785..186528396-chr4:186534071..186535793,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10002478	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12498673	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13117637	0.85[JPT][hapmap]
rs13129009	0.89[EUR][1000 genomes]
rs7699576	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527026	chr4:186325429-186553480	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	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
3	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186495400-186548000	Weak transcription	Esophagus	oesophagus
2	chr4:186509000-186576400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:186509400-186564200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:186513000-186536200	Weak transcription	Right Atrium	heart
5	chr4:186514400-186535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:186514400-186540200	Weak transcription	Ovary	ovary
7	chr4:186519000-186549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:186519000-186577600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:186519200-186544000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:186519200-186545800	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:186519200-186561000	Weak transcription	Fetal Kidney	kidney
12	chr4:186521200-186542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:186521200-186542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:186521200-186543800	Weak transcription	Brain Anterior Caudate	brain
15	chr4:186521200-186548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:186521400-186544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:186521600-186572200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:186523600-186577600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:186524200-186536600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:186524200-186541400	Strong transcription	HSMMtube	muscle
21	chr4:186524600-186547400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:186527200-186542800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:186528400-186537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:186528400-186537800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:186528400-186544000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:186528400-186544800	Weak transcription	Lung	lung
27	chr4:186529000-186545000	Weak transcription	Placenta	Placenta
28	chr4:186529400-186553400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:186530200-186537200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:186530400-186544000	Weak transcription	Adipose Nuclei	Adipose
31	chr4:186530400-186545000	Weak transcription	Osteobl	bone
32	chr4:186530400-186546800	Strong transcription	Liver	Liver
33	chr4:186530800-186540400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:186530800-186542600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:186531200-186540400	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:186532600-186560200	Weak transcription	Colonic Mucosa	Colon
37	chr4:186532800-186536200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:186532800-186536400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:186532800-186536400	Strong transcription	Pancreas	Pancrea
40	chr4:186533000-186536800	Strong transcription	Fetal Brain Female	brain
41	chr4:186533000-186540400	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:186533000-186545600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:186533200-186552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:186533800-186536200	Strong transcription	Fetal Intestine Small	intestine
45	chr4:186533800-186536400	Strong transcription	Fetal Stomach	stomach
46	chr4:186533800-186536400	Strong transcription	Left Ventricle	heart
47	chr4:186533800-186577600	Weak transcription	NH-A	brain
48	chr4:186534000-186536200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr4:186534000-186544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:186534200-186536200	Strong transcription	Gastric	stomach

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