Variant report

Variant	rs9908809
Chromosome Location	chr17:33951819-33951820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33948219..33950290-chr17:33951562..33953635,2	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12103451	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12103729	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12150473	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12150480	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16971277	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs321600	0.84[ASN][1000 genomes]
rs321602	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34619890	0.85[EUR][1000 genomes]
rs55898431	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56056154	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56227129	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56292300	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61515677	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72828056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72828059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828073	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72828084	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72828093	0.81[EUR][1000 genomes]
rs740913	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9892037	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9892539	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9906309	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9906872	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9909815	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9911836	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1062793	chr17:33944732-33976685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
2	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:33926000-33955200	Weak transcription	Pancreas	Pancrea
7	chr17:33926800-33952600	Weak transcription	Fetal Brain Male	brain
8	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
11	chr17:33933600-33952800	Weak transcription	Brain Substantia Nigra	brain
12	chr17:33933600-33967400	Weak transcription	Gastric	stomach
13	chr17:33935600-33953000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:33935600-33953400	Weak transcription	HSMMtube	muscle
15	chr17:33936000-33953800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:33936800-33956800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr17:33937400-33965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:33938200-33953200	Weak transcription	Colonic Mucosa	Colon
19	chr17:33938600-33952000	Weak transcription	Fetal Brain Female	brain
20	chr17:33938600-33952800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr17:33938600-33953400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:33938600-33953600	Weak transcription	Spleen	Spleen
23	chr17:33938600-33954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:33939000-33953800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:33940000-33960000	Weak transcription	Right Ventricle	heart
26	chr17:33942200-33953000	Weak transcription	NHLF	lung
27	chr17:33942200-33953400	Weak transcription	Lung	lung
28	chr17:33942200-33954400	Weak transcription	Aorta	Aorta
29	chr17:33943400-33956800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:33943600-33956800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:33944600-33957400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:33945600-33953800	Weak transcription	Fetal Heart	heart
33	chr17:33947000-33958200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:33947400-33952800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:33947800-33952400	Weak transcription	Fetal Stomach	stomach
36	chr17:33947800-33953600	Weak transcription	Fetal Intestine Small	intestine
37	chr17:33947800-33955000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:33948600-33958200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr17:33949200-33953600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr17:33949400-33953600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:33949800-33958800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr17:33950000-33957200	Strong transcription	Osteobl	bone
48	chr17:33950200-33957200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:33950200-33957800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr17:33950400-33953800	Strong transcription	Primary B cells from peripheral blood	blood

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