Variant report

Variant	rs12506000
Chromosome Location	chr4:152670765-152670766
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	chr4:152664298..152671404-chr4:152680286..152684631,9	K562	blood:

Variant related genes	Relation type
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10001603	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10013612	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10016160	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10222838	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10222925	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11723227	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1366907	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1429558	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1429559	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1877185	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1877186	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2089811	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2175409	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3805356	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3828546	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4696110	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4696290	0.82[ASN][1000 genomes]
rs58751443	0.80[ASN][1000 genomes]
rs59350867	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6535822	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6847844	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6849111	0.80[ASN][1000 genomes]
rs6855883	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6857073	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7654294	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7675818	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs867800	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508322	chr4:152617079-152678951	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152629200-152681400	Weak transcription	Colonic Mucosa	Colon
2	chr4:152629400-152681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:152651800-152681400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:152657800-152674000	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:152657800-152677600	Weak transcription	Brain Anterior Caudate	brain
6	chr4:152658400-152674200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:152658600-152674000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:152658600-152681200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:152659000-152674000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:152659000-152681400	Weak transcription	Pancreas	Pancrea
11	chr4:152659200-152673800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:152659200-152674200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:152659200-152674400	Weak transcription	Right Ventricle	heart
14	chr4:152659400-152674000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:152659400-152674200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:152659400-152674600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:152659400-152675200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:152659400-152675400	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:152659400-152677200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:152659400-152678400	Weak transcription	Fetal Stomach	stomach
21	chr4:152659400-152681400	Weak transcription	Thymus	Thymus
22	chr4:152659600-152673800	Weak transcription	Fetal Thymus	thymus
23	chr4:152659600-152674200	Weak transcription	Aorta	Aorta
24	chr4:152659600-152674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:152659600-152681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:152659800-152681400	Weak transcription	Spleen	Spleen
27	chr4:152660000-152674200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:152660200-152674200	Weak transcription	Esophagus	oesophagus
29	chr4:152660600-152673800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:152660800-152671400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:152660800-152674200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:152660800-152675000	Weak transcription	Left Ventricle	heart
33	chr4:152660800-152681000	Weak transcription	Fetal Lung	lung
34	chr4:152661200-152670800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:152661600-152674200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:152661600-152674800	Weak transcription	Dnd41	blood
37	chr4:152661800-152672200	Weak transcription	Primary B cells from cord blood	blood
38	chr4:152662400-152671000	Weak transcription	Liver	Liver
39	chr4:152662600-152681400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:152663000-152671200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:152663000-152671200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:152663000-152674400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr4:152663400-152670800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:152665000-152677200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:152665400-152681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:152665800-152671000	Weak transcription	Fetal Intestine Small	intestine
47	chr4:152666200-152673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:152666200-152674000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:152666200-152681200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:152666400-152681000	Weak transcription	HUVEC	blood vessel

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