Variant report

Variant	rs17110485
Chromosome Location	chr1:84967111-84967112
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:84966627-84967317	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr1:84957385-84973725	K562	blood:	n/a	n/a
3	POLR2A	chr1:84966336-84967654	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:84966387-84967507	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:84966766-84967531	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:84966726-84967619	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:84966458-84967422	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr1:84967107-84967236	A549	lung:	n/a	n/a
9	POLR2A	chr1:84967087-84967666	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84944599..84947463-chr1:84964878..84967395,3	MCF-7	breast:
2	chr1:84954216..84956546-chr1:84965976..84968272,2	MCF-7	breast:
3	chr1:84966859..84967438-chr4:130014522..130015128,2	Hela-S3	cervix:
4	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
5	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:

No data

Variant related genes	Relation type
SPATA1	TF binding region
ENSG00000117133	Chromatin interaction
ENSG00000151466	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10493754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10874449	0.85[ASN][1000 genomes]
rs11163973	0.91[ASN][1000 genomes]
rs11163974	0.84[ASN][1000 genomes]
rs11163975	0.91[ASN][1000 genomes]
rs11163976	0.91[ASN][1000 genomes]
rs11163982	1.00[ASN][1000 genomes]
rs11163985	1.00[ASN][1000 genomes]
rs11163986	0.85[ASN][1000 genomes]
rs11163987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11163993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11164001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12075532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12354394	0.85[ASN][1000 genomes]
rs13093	1.00[ASN][1000 genomes]
rs17110164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110949	0.85[ASN][1000 genomes]
rs1891126	1.00[CHB][hapmap]
rs3768247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs56876287	1.00[ASN][1000 genomes]
rs6576712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6576714	0.82[ASN][1000 genomes]
rs6658034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6658974	1.00[ASN][1000 genomes]
rs6660306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6662644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6662683	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6666572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6668752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6669593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6676502	0.96[ASN][1000 genomes]
rs6684882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6688208	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6690906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6698596	1.00[CHB][hapmap]
rs6701280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6704452	1.00[ASN][1000 genomes]
rs72948416	0.88[ASN][1000 genomes]
rs7524576	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7532298	0.82[ASN][1000 genomes]
rs7539413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7541850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7541909	1.00[ASN][1000 genomes]
rs7547208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7554311	1.00[CHB][hapmap]
rs7555773	1.00[ASN][1000 genomes]
rs7555821	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17110485	CTBS	cis	Heart Left Ventricle	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
2	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:84946800-84967400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:84947400-84969800	Weak transcription	Aorta	Aorta
6	chr1:84947800-84967800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:84949600-84968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:84951200-84971000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:84952400-84967400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:84953800-84968400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:84954800-84967600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr1:84954800-84969200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:84955000-84967200	Strong transcription	Fetal Thymus	thymus
14	chr1:84955000-84967200	Strong transcription	HSMM	muscle
15	chr1:84955000-84967400	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr1:84955000-84967400	Strong transcription	HUVEC	blood vessel
17	chr1:84955000-84967400	Strong transcription	NH-A	brain
18	chr1:84955000-84967400	Strong transcription	NHDF-Ad	bronchial
19	chr1:84955000-84968400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:84955200-84967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:84955200-84967400	Strong transcription	Adipose Nuclei	Adipose
22	chr1:84955200-84967400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:84955200-84968000	Strong transcription	Osteobl	bone
24	chr1:84955200-84968200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:84955200-84968800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:84955200-84968800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:84955800-84967400	Strong transcription	HMEC	breast
28	chr1:84956000-84969400	Weak transcription	Pancreas	Pancrea
29	chr1:84956800-84969400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:84956800-84970400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:84958000-84968800	Weak transcription	Right Ventricle	heart
32	chr1:84958600-84969400	Weak transcription	Gastric	stomach
33	chr1:84958600-84970400	Weak transcription	Lung	lung
34	chr1:84960200-84967200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:84960600-84968800	Weak transcription	Psoas Muscle	Psoas
36	chr1:84961400-84968800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:84961600-84968200	Strong transcription	K562	blood
38	chr1:84963000-84967400	Genic enhancers	Liver	Liver
39	chr1:84963000-84968200	Weak transcription	Fetal Intestine Small	intestine
40	chr1:84963000-84968800	Weak transcription	Fetal Stomach	stomach
41	chr1:84963000-84969400	Weak transcription	Spleen	Spleen
42	chr1:84963000-84969600	Weak transcription	Colonic Mucosa	Colon
43	chr1:84963800-84968200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:84963800-84968600	Weak transcription	Stomach Mucosa	stomach
45	chr1:84963800-84969400	Weak transcription	A549	lung
46	chr1:84963800-84970200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:84963800-84970200	Weak transcription	Fetal Brain Male	brain
48	chr1:84963800-84970400	Weak transcription	Brain Angular Gyrus	brain
49	chr1:84964000-84967400	Strong transcription	Primary B cells from cord blood	blood
50	chr1:84964000-84967600	Strong transcription	Primary B cells from peripheral blood	blood

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