Variant report

Variant	rs9914730
Chromosome Location	chr17:33997756-33997757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33996336..33998248-chr17:34000233..34002749,3	K562	blood:
2	chr17:33990380..33993199-chr17:33997435..33999392,3	K562	blood:
3	chr17:33989028..33991880-chr17:33997553..33999488,2	K562	blood:
4	chr17:33997419..33999058-chr17:34073023..34074672,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1037591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10491114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491115	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870399	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11870475	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12449919	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12450039	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12452633	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12452961	0.97[ASN][1000 genomes]
rs12600662	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12603142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971122	0.89[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap]
rs1964509	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2079924	0.86[EUR][1000 genomes]
rs226424	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs226427	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs226433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226435	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226437	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2301731	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2428463	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2523115	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28384428	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28384429	0.97[ASN][1000 genomes]
rs28661650	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3785759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3785763	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62079728	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7211363	0.89[ASN][1000 genomes]
rs7213022	0.95[AFR][1000 genomes]
rs9303689	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9891317	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9904644	0.82[JPT][hapmap];0.91[YRI][hapmap]
rs9904957	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9906037	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9907911	0.91[YRI][hapmap]
rs9916483	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
5	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
9	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr17:33963400-34001200	Weak transcription	Aorta	Aorta
11	chr17:33966000-34002000	Strong transcription	Primary T cells from cord blood	blood
12	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:33968400-33997800	Weak transcription	Brain Substantia Nigra	brain
14	chr17:33969000-34001200	Weak transcription	Right Ventricle	heart
15	chr17:33969400-34001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:33969600-33998600	Weak transcription	Fetal Brain Male	brain
17	chr17:33970000-33997800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:33970400-34001200	Weak transcription	Small Intestine	intestine
19	chr17:33971200-33997800	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:33972000-33998800	Weak transcription	Ovary	ovary
21	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr17:33977200-34010400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr17:33977800-33997800	Weak transcription	Gastric	stomach
24	chr17:33978000-33997800	Weak transcription	Lung	lung
25	chr17:33978000-34001200	Weak transcription	Brain Angular Gyrus	brain
26	chr17:33978200-33997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr17:33978200-33997800	Weak transcription	Fetal Brain Female	brain
28	chr17:33979400-34016600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:33980800-33998200	Weak transcription	Brain Germinal Matrix	brain
30	chr17:33981400-33997800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:33981400-34001200	Weak transcription	Pancreas	Pancrea
32	chr17:33981600-33997800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:33982000-34007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:33985000-33998800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr17:33985000-33999200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr17:33985400-34001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:33985800-33997800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:33985800-33998600	Weak transcription	Fetal Kidney	kidney
39	chr17:33987400-33997800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:33987400-33997800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr17:33987400-33997800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:33988400-33997800	Weak transcription	Fetal Heart	heart
43	chr17:33988600-33998200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr17:33988600-34002400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr17:33989600-33999000	Weak transcription	Hela-S3	cervix
46	chr17:33989800-33997800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:33990600-33997800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:33990800-33997800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:33990800-33998200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:33991000-33997800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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