Variant report

Variant	rs4537525
Chromosome Location	chr1:165711089-165711090
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	chr1:165710113..165712004-chr1:165797069..165798776,2	K562	blood:
2	chr1:165710113..165712219-chr1:165796234..165798569,2	K562	blood:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10800135	1.00[JPT][hapmap]
rs10800153	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800154	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10800155	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918274	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12133745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403369	1.00[JPT][hapmap]
rs12691499	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691500	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547725	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2251768	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2790049	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790052	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790053	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814463	0.83[ASN][1000 genomes]
rs2814466	1.00[JPT][hapmap]
rs2814471	1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504591	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4233408	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656460	0.82[AMR][1000 genomes]
rs4656461	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657471	1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4657472	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4657474	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4657475	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657476	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657477	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426936	0.86[AMR][1000 genomes]
rs6660601	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662839	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668108	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668885	0.86[EUR][1000 genomes]
rs6696454	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71628393	0.83[ASN][1000 genomes]
rs7518099	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524755	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7528177	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7555523	1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:165694000-165711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
5	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
6	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:165695800-165712000	Weak transcription	Psoas Muscle	Psoas
9	chr1:165696000-165721600	Weak transcription	Gastric	stomach
10	chr1:165699800-165721600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:165702800-165714600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:165705200-165715800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:165706800-165713800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr1:165706800-165715000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:165707200-165714400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:165707400-165714600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:165707400-165718200	Strong transcription	Primary T cells from cord blood	blood
19	chr1:165707600-165713600	Strong transcription	Fetal Thymus	thymus
20	chr1:165707600-165714800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:165707600-165721600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:165707800-165711200	Weak transcription	A549	lung
23	chr1:165707800-165711800	Weak transcription	Fetal Brain Male	brain
24	chr1:165707800-165713800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:165707800-165713800	Strong transcription	Osteobl	bone
26	chr1:165707800-165714200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:165707800-165714800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:165707800-165715400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:165707800-165717800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:165708000-165712800	Strong transcription	Fetal Brain Female	brain
31	chr1:165708000-165715000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:165708000-165715800	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:165708000-165721200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:165708200-165713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:165708200-165718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:165708200-165721600	Weak transcription	Right Atrium	heart
37	chr1:165708400-165712400	Strong transcription	Brain Hippocampus Middle	brain
38	chr1:165708400-165715600	Strong transcription	Fetal Stomach	stomach
39	chr1:165708400-165718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:165708600-165712000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:165708600-165712800	Strong transcription	Thymus	Thymus
42	chr1:165708600-165713400	Strong transcription	Lung	lung
43	chr1:165708600-165713600	Strong transcription	Fetal Intestine Large	intestine
44	chr1:165708600-165715200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:165708800-165714400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:165708800-165715400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:165708800-165716200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:165708800-165717400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:165708800-165721600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:165709000-165712400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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