Variant report

Variant	rs12645029
Chromosome Location	chr4:152650032-152650033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152648199..152650587-chr4:152655705..152657391,2	K562	blood:
2	chr4:152642909..152646471-chr4:152647150..152651425,3	K562	blood:
3	chr4:152621775..152623780-chr4:152649637..152652464,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10001603	0.83[EUR][1000 genomes]
rs1107797	0.83[CEU][hapmap]
rs12649199	0.81[EUR][1000 genomes]
rs17360371	0.80[EUR][1000 genomes]
rs17360385	0.84[EUR][1000 genomes]
rs1822346	1.00[CEU][hapmap]
rs1822347	1.00[CEU][hapmap]
rs4696098	1.00[CEU][hapmap]
rs4696099	1.00[CEU][hapmap]
rs4696266	0.92[CEU][hapmap]
rs4696268	0.89[CEU][hapmap]
rs4696288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696290	0.80[EUR][1000 genomes]
rs62327349	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62327350	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535822	0.81[CEU][hapmap]
rs6816471	1.00[CEU][hapmap]
rs6836249	0.88[CEU][hapmap]
rs7674244	1.00[CEU][hapmap]
rs7683134	1.00[CEU][hapmap]
rs7695412	0.88[CEU][hapmap]
rs7695866	1.00[CEU][hapmap]
rs875667	1.00[CEU][hapmap]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152612000-152651000	Weak transcription	K562	blood
2	chr4:152614600-152651200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:152615000-152651000	Weak transcription	HSMM	muscle
4	chr4:152616600-152665400	Weak transcription	NHDF-Ad	bronchial
5	chr4:152621400-152651600	Weak transcription	Small Intestine	intestine
6	chr4:152625000-152651000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:152629000-152658800	Weak transcription	Pancreas	Pancrea
8	chr4:152629200-152657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:152629200-152681400	Weak transcription	Colonic Mucosa	Colon
10	chr4:152629400-152651200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:152629400-152651200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:152629400-152681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:152631200-152651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:152633400-152657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:152636600-152651000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:152636600-152651000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:152638000-152651600	Weak transcription	Ovary	ovary
18	chr4:152638200-152651600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:152640600-152658800	Weak transcription	Lung	lung
20	chr4:152640800-152651200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:152640800-152651400	Weak transcription	Gastric	stomach
22	chr4:152640800-152658800	Weak transcription	Right Atrium	heart
23	chr4:152641000-152657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:152641000-152657000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:152641000-152657400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:152641200-152657600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr4:152641400-152651000	Weak transcription	HepG2	liver
28	chr4:152641400-152651200	Weak transcription	Stomach Mucosa	stomach
29	chr4:152641400-152651400	Weak transcription	HSMMtube	muscle
30	chr4:152641400-152657000	Weak transcription	Aorta	Aorta
31	chr4:152641400-152657000	Weak transcription	Liver	Liver
32	chr4:152643000-152651000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:152643000-152651400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:152643200-152657000	Weak transcription	Fetal Intestine Small	intestine
35	chr4:152644400-152657000	Weak transcription	Primary T cells from cord blood	blood
36	chr4:152644600-152650800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:152644600-152666600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:152645000-152657400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr4:152646600-152651200	Weak transcription	Left Ventricle	heart
40	chr4:152646600-152657000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:152647200-152651000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:152648200-152651400	Enhancers	NHEK	skin
43	chr4:152648200-152652000	Enhancers	HMEC	breast
44	chr4:152648800-152651000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:152649000-152657200	Weak transcription	Primary B cells from cord blood	blood
46	chr4:152649400-152651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:152649800-152650200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:152650000-152650800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:152650000-152651600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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