Variant report

Variant	rs12723198
Chromosome Location	chr1:165702346-165702347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165699986..165702964-chr1:165714611..165716642,2	K562	blood:
2	chr1:165702257..165704580-chr1:165731133..165732717,2	K562	blood:
3	chr1:165701078..165702896-chr1:165706943..165709704,2	K562	blood:
4	chr1:165701898..165704747-chr1:165797455..165798967,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10800152	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10918266	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10918276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10918281	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12028087	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913846	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2153263	0.80[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs2153264	0.80[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs2790057	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2814470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4366297	0.80[ASN][1000 genomes]
rs4656462	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4657470	0.88[CEU][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6426937	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6426940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6656194	0.81[CHB][hapmap]
rs6670705	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6679238	0.83[ASN][1000 genomes]
rs7411708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7512095	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540840	0.90[AMR][1000 genomes];0.94[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:118 , 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	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:165687600-165705000	Weak transcription	Thymus	Thymus
4	chr1:165687600-165706000	Weak transcription	HepG2	liver
5	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
7	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:165687800-165707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:165690200-165710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:165691000-165710000	Weak transcription	Fetal Kidney	kidney
12	chr1:165693200-165705600	Weak transcription	Ovary	ovary
13	chr1:165693400-165709600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:165693800-165706000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:165694000-165706000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:165694000-165708600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:165694000-165709800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:165694000-165709800	Weak transcription	Brain Substantia Nigra	brain
19	chr1:165694000-165711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:165694200-165705000	Weak transcription	Left Ventricle	heart
21	chr1:165694200-165709800	Weak transcription	Colonic Mucosa	Colon
22	chr1:165694200-165709800	Weak transcription	Pancreas	Pancrea
23	chr1:165694200-165709800	Weak transcription	Spleen	Spleen
24	chr1:165694200-165710000	Weak transcription	NHEK	skin
25	chr1:165694200-165721600	Weak transcription	Aorta	Aorta
26	chr1:165694200-165721600	Weak transcription	Esophagus	oesophagus
27	chr1:165694400-165705800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:165694400-165721600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:165694600-165709800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:165694600-165711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:165694600-165711000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:165694800-165709800	Weak transcription	Small Intestine	intestine
34	chr1:165695600-165708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:165695600-165709800	Weak transcription	Brain Angular Gyrus	brain
36	chr1:165695800-165705400	Weak transcription	Fetal Lung	lung
37	chr1:165695800-165712000	Weak transcription	Psoas Muscle	Psoas
38	chr1:165696000-165709800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:165696000-165721600	Weak transcription	Gastric	stomach
40	chr1:165696400-165709200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:165696600-165706800	Weak transcription	Fetal Heart	heart
42	chr1:165696800-165709800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:165696800-165709800	Weak transcription	Brain Germinal Matrix	brain
44	chr1:165696800-165709800	Weak transcription	NHLF	lung
45	chr1:165697200-165704200	Weak transcription	K562	blood
46	chr1:165697200-165705000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:165697200-165709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:165697200-165710400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:165697400-165704000	Weak transcription	Fetal Thymus	thymus
50	chr1:165697400-165704200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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