Variant report

Variant	rs12123935
Chromosome Location	chr1:93175814-93175815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93175208..93177703-chr1:93227101..93229847,2	K562	blood:
2	chr1:93175257..93178526-chr1:93178760..93181629,3	K562	blood:
3	chr1:93168714..93171281-chr1:93175586..93177919,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1003116	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1034218	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10735781	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10747446	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10782936	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10782937	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10782941	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874710	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10874711	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10874724	0.83[EUR][1000 genomes]
rs10874725	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10874726	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10874727	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10874732	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874733	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874736	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874738	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11164785	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11164789	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11164791	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11164796	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11164807	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11164810	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12021539	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12025792	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12401423	0.84[EUR][1000 genomes]
rs1337107	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1535372	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2065915	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2107518	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2107519	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2391197	0.92[EUR][1000 genomes]
rs3903212	0.83[EUR][1000 genomes]
rs3936944	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3936945	0.83[EUR][1000 genomes]
rs4294422	0.82[EUR][1000 genomes]
rs4294424	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4480368	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847267	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4847301	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847306	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847311	0.84[EUR][1000 genomes]
rs4847336	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4847432	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4970707	0.82[EUR][1000 genomes]
rs6603989	0.82[EUR][1000 genomes]
rs6603997	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6604007	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6604008	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6604013	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6604014	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660136	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6660962	0.82[EUR][1000 genomes]
rs6666831	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6675753	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675757	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6680578	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6682801	0.84[EUR][1000 genomes]
rs6695638	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6697491	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs722356	0.82[EUR][1000 genomes]
rs7417452	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7418336	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7513775	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7514334	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7521752	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7530780	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535490	0.84[EUR][1000 genomes]
rs7539761	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7541588	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7541942	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7546197	0.93[EUR][1000 genomes]
rs7549341	0.84[EUR][1000 genomes]
rs7551324	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs911523	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93098400-93205400	Weak transcription	NHLF	lung
2	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
3	chr1:93123600-93178800	Weak transcription	Aorta	Aorta
4	chr1:93123600-93213400	Weak transcription	Gastric	stomach
5	chr1:93155800-93213400	Weak transcription	Lung	lung
6	chr1:93160800-93177000	Weak transcription	Ovary	ovary
7	chr1:93161000-93176800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:93161000-93197400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:93161000-93197800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:93161000-93199000	Weak transcription	Left Ventricle	heart
11	chr1:93163800-93177400	Weak transcription	Placenta	Placenta
12	chr1:93163800-93190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:93167600-93177800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:93170200-93189800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:93171400-93177400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:93173400-93177800	Enhancers	K562	blood
17	chr1:93174200-93177000	Enhancers	Liver	Liver
18	chr1:93174400-93202000	Weak transcription	Fetal Heart	heart
19	chr1:93174800-93176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:93175200-93176000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:93175200-93176000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:93175200-93176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:93175200-93176000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:93175200-93176000	Enhancers	HSMM	muscle
25	chr1:93175200-93176000	Enhancers	NH-A	brain
26	chr1:93175200-93176000	Enhancers	Osteobl	bone
27	chr1:93175200-93176200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:93175200-93177800	Enhancers	Fetal Intestine Large	intestine
29	chr1:93175200-93178000	Enhancers	HepG2	liver
30	chr1:93175200-93178400	Enhancers	Fetal Intestine Small	intestine
31	chr1:93175400-93176000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:93175400-93176000	Enhancers	HSMMtube	muscle
33	chr1:93175400-93176400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:93175400-93177600	Enhancers	Pancreas	Pancrea
35	chr1:93175600-93176000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:93175600-93176000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:93175600-93176000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:93175600-93177800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:93175600-93177800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:93175600-93179400	Weak transcription	A549	lung
41	chr1:93175600-93180000	Weak transcription	Stomach Mucosa	stomach
42	chr1:93175800-93176000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:93175800-93190200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:93175800-93199400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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