Variant report

Variant	rs12643642
Chromosome Location	chr4:87004534-87004535
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86996065..86997848-chr4:87003738..87005825,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12640230	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12642872	0.92[ASN][1000 genomes]
rs12642887	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1436522	0.87[ASN][1000 genomes]
rs2043648	0.84[ASN][1000 genomes]
rs2043650	0.84[ASN][1000 genomes]
rs2282595	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3755971	0.96[ASN][1000 genomes]
rs3775164	0.92[ASN][1000 genomes]
rs3775166	0.84[ASN][1000 genomes]
rs3775168	0.84[ASN][1000 genomes]
rs3775169	0.84[ASN][1000 genomes]
rs3775172	0.92[ASN][1000 genomes]
rs3775175	0.96[ASN][1000 genomes]
rs3775176	0.96[ASN][1000 genomes]
rs3775180	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3822035	0.92[ASN][1000 genomes]
rs3822036	0.96[ASN][1000 genomes]
rs4382028	0.87[ASN][1000 genomes]
rs4479697	0.84[ASN][1000 genomes]
rs55663953	0.94[ASN][1000 genomes]
rs58418821	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59198932	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59693882	0.96[ASN][1000 genomes]
rs59784739	0.90[ASN][1000 genomes]
rs60726298	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6531890	0.83[ASN][1000 genomes]
rs6856450	0.84[ASN][1000 genomes]
rs7691896	0.84[ASN][1000 genomes]
rs7692516	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009622	chr4:86893536-87119153	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003585	chr4:86957967-87250436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv594761	chr4:86976413-87018488	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2754254	chr4:86979147-87108510	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879521	chr4:86979927-87165758	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87002600-87005800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:87003200-87005600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:87003600-87004600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
4	chr4:87003600-87005000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr4:87003600-87005400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:87003600-87005400	ZNF genes & repeats	Fetal Kidney	kidney
7	chr4:87003600-87005400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr4:87003600-87005600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:87003800-87005000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:87003800-87005000	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr4:87003800-87005200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr4:87003800-87005200	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr4:87003800-87005200	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr4:87003800-87005200	ZNF genes & repeats	Fetal Lung	lung
15	chr4:87003800-87005400	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr4:87003800-87005400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:87003800-87005600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr4:87004000-87005200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:87004000-87005200	ZNF genes & repeats	Ovary	ovary
20	chr4:87004000-87005400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:87004000-87005400	ZNF genes & repeats	Aorta	Aorta
22	chr4:87004000-87005400	ZNF genes & repeats	Fetal Stomach	stomach
23	chr4:87004000-87005600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:87004000-87028400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:87004200-87005400	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr4:87004200-87006400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:87004400-87004600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr4:87004400-87005000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr4:87004400-87005200	ZNF genes & repeats	Left Ventricle	heart
30	chr4:87004400-87005400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:87004400-87005400	ZNF genes & repeats	Pancreas	Pancrea

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