Variant report

Variant	rs10800153
Chromosome Location	chr1:165713240-165713241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165707082..165709432-chr1:165711887..165713591,2	K562	blood:
2	chr1:165706527..165709432-chr1:165711887..165713533,2	K562	blood:
3	chr1:165712050..165713771-chr1:165714315..165716947,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10800154	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10800155	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	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
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	0.82[AMR][1000 genomes]
rs2790049	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790052	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790053	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814463	0.83[ASN][1000 genomes]
rs2814471	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]
rs4537525	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656460	0.82[AMR][1000 genomes]
rs4656461	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657471	0.88[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	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657477	0.83[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662839	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668108	0.88[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	0.88[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	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524755	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7528177	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7555523	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:123 , 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	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
4	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
5	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:165696000-165721600	Weak transcription	Gastric	stomach
8	chr1:165699800-165721600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:165702800-165714600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:165705200-165715800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:165706800-165713800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:165706800-165715000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:165707200-165714400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:165707400-165714600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:165707400-165718200	Strong transcription	Primary T cells from cord blood	blood
17	chr1:165707600-165713600	Strong transcription	Fetal Thymus	thymus
18	chr1:165707600-165714800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:165707600-165721600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:165707800-165713800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:165707800-165713800	Strong transcription	Osteobl	bone
22	chr1:165707800-165714200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:165707800-165714800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:165707800-165715400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:165707800-165717800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:165708000-165715000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:165708000-165715800	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:165708000-165721200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:165708200-165713800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:165708200-165718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:165708200-165721600	Weak transcription	Right Atrium	heart
32	chr1:165708400-165715600	Strong transcription	Fetal Stomach	stomach
33	chr1:165708400-165718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:165708600-165713400	Strong transcription	Lung	lung
35	chr1:165708600-165713600	Strong transcription	Fetal Intestine Large	intestine
36	chr1:165708600-165715200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:165708800-165714400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:165708800-165715400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:165708800-165716200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:165708800-165717400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:165708800-165721600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:165709000-165713600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:165709000-165714200	Strong transcription	Liver	Liver
44	chr1:165709000-165714400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:165709200-165718400	Strong transcription	Primary B cells from cord blood	blood
46	chr1:165709200-165720600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:165709400-165713400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:165709400-165713800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr1:165709400-165714000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:165709400-165715600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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