Variant report

Variant	rs12103451
Chromosome Location	chr17:34033890-34033891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12103729	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12150473	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12150480	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34619890	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55898431	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56056154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227129	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56292300	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61515677	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72828056	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72828059	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72828073	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72828084	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72828093	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs740913	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9892037	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9892539	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9904187	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9906309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9906872	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9908809	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9909815	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9911836	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv908080	chr17:34027964-34054044	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
4	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
5	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
6	chr17:34011800-34036200	Weak transcription	Hela-S3	cervix
7	chr17:34013600-34036000	Weak transcription	NHLF	lung
8	chr17:34016000-34036600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:34017200-34034600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:34017800-34040400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:34018800-34034600	Weak transcription	Pancreas	Pancrea
12	chr17:34018800-34036000	Weak transcription	Gastric	stomach
13	chr17:34018800-34050600	Weak transcription	Esophagus	oesophagus
14	chr17:34019000-34044000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:34021000-34036800	Weak transcription	NHEK	skin
16	chr17:34021200-34037000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:34022000-34036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:34022000-34036200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:34022200-34036000	Weak transcription	Ovary	ovary
20	chr17:34022200-34042400	Weak transcription	Aorta	Aorta
21	chr17:34022400-34036000	Weak transcription	Left Ventricle	heart
22	chr17:34022600-34035400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:34022600-34036000	Weak transcription	Psoas Muscle	Psoas
24	chr17:34022800-34036000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:34022800-34036200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:34022800-34036400	Weak transcription	Colon Smooth Muscle	Colon
27	chr17:34023000-34034800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:34023000-34034800	Weak transcription	Brain Angular Gyrus	brain
29	chr17:34023000-34035200	Weak transcription	GM12878-XiMat	blood
30	chr17:34023000-34036800	Weak transcription	NHDF-Ad	bronchial
31	chr17:34023200-34034600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:34023200-34034800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:34023200-34034800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr17:34023200-34035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:34023200-34035800	Weak transcription	Brain Anterior Caudate	brain
36	chr17:34023200-34036000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:34023200-34036000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:34023200-34036000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:34023200-34036800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr17:34023200-34037000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:34023200-34037400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:34023200-34043800	Weak transcription	Spleen	Spleen
43	chr17:34023200-34044000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr17:34023200-34051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr17:34023400-34034600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr17:34023400-34034800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr17:34023400-34036000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:34023400-34036800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr17:34023400-34044200	Weak transcription	Brain Germinal Matrix	brain
50	chr17:34023600-34036000	Weak transcription	Placenta	Placenta

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