Variant report

Variant	rs2011897
Chromosome Location	chr17:34054408-34054409
allele	A/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:3)
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	chr17:34053798-34057239	K562	blood:	n/a	n/a
2	POLR2A	chr17:34054358-34055182	K562	blood:	n/a	n/a
3	POLR2A	chr17:34053548-34054520	K562	blood:	n/a	n/a
4	POLR2A	chr17:34054107-34057401	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:34054233-34054881	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr17:34053535-34054657	K562	blood:	n/a	n/a
7	POLR2A	chr17:34053961-34054653	K562	blood:	n/a	n/a
8	POLR2A	chr17:34054168-34054441	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr17:34053940-34054438	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:34052693..34055249-chr17:34130383..34133177,2	K562	blood:
2	chr17:34052461..34055326-chr17:34057428..34060444,5	K562	blood:
3	chr17:34053645..34055834-chr17:34135102..34137667,2	MCF-7	breast:

No data

Variant related genes	Relation type
RASL10B	TF binding region
ENSG00000172660	Chromatin interaction
ENSG00000141150	Chromatin interaction
ENSG00000267578	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10438814	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1080352	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs11650473	1.00[CHB][hapmap]
rs11652234	0.82[ASN][1000 genomes]
rs11871358	0.89[EUR][1000 genomes]
rs1634683	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17550268	0.81[CEU][hapmap]
rs17550632	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17550716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs17638867	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs178736	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs188959	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011528	0.92[EUR][1000 genomes]
rs225244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs225248	0.84[EUR][1000 genomes]
rs225249	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225250	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225252	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225256	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225257	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225258	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225260	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs225261	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225264	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225265	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225266	0.84[EUR][1000 genomes]
rs225267	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225270	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225271	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225274	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225275	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225283	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225285	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs225286	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225287	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225288	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225292	0.80[EUR][1000 genomes]
rs225294	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225296	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225298	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225300	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs225303	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225305	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225306	0.90[CEU][hapmap]
rs225307	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225308	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226084	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226087	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226090	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2376177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2428464	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523114	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523116	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523117	0.83[EUR][1000 genomes]
rs2626625	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2626626	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35542792	0.82[ASN][1000 genomes]
rs3859282	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859284	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890900	0.85[EUR][1000 genomes]
rs4795086	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4796098	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4796100	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796101	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796104	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505484	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505485	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505486	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505487	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7208672	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210966	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7211724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7213804	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214250	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214742	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217378	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217533	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221203	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829922	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829923	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829925	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829927	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829932	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829933	0.97[EUR][1000 genomes]
rs72829936	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72829940	0.91[EUR][1000 genomes]
rs8064895	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070030	1.00[CHB][hapmap]
rs8071584	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8072676	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8074800	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8077826	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303690	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9674851	1.00[JPT][hapmap]
rs9894813	0.80[CEU][hapmap]
rs9895464	1.00[JPT][hapmap]
rs9898128	1.00[JPT][hapmap]
rs9912939	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9914929	1.00[JPT][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2011897	SUZ12P	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:34032600-34055800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:34034800-34055600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:34035400-34056200	Strong transcription	A549	lung
6	chr17:34036000-34055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:34036600-34055800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:34036800-34054800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr17:34040200-34055000	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr17:34040600-34054800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr17:34040600-34055200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:34040600-34055600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:34042800-34055400	Strong transcription	Primary T cells from cord blood	blood
16	chr17:34043800-34054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:34044800-34055800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:34045000-34058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:34046000-34054800	Strong transcription	Dnd41	blood
20	chr17:34046600-34056200	Strong transcription	HMEC	breast
21	chr17:34048200-34055400	Strong transcription	Primary B cells from cord blood	blood
22	chr17:34048400-34055600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr17:34050000-34055000	Strong transcription	Liver	Liver
24	chr17:34050200-34055800	Strong transcription	Thymus	Thymus
25	chr17:34050400-34055400	Strong transcription	Fetal Brain Female	brain
26	chr17:34050400-34056000	Strong transcription	Lung	lung
27	chr17:34050600-34055000	Strong transcription	Spleen	Spleen
28	chr17:34050600-34055200	Strong transcription	Esophagus	oesophagus
29	chr17:34050600-34055400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:34051600-34054800	Genic enhancers	Placenta	Placenta
31	chr17:34052000-34054600	Genic enhancers	Fetal Muscle Leg	muscle
32	chr17:34052200-34054600	Genic enhancers	NH-A	brain
33	chr17:34052200-34054600	Enhancers	NHDF-Ad	bronchial
34	chr17:34052200-34055000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:34052200-34057800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:34052400-34054800	Genic enhancers	Fetal Stomach	stomach
37	chr17:34052400-34055000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:34052400-34055000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr17:34052400-34057600	Weak transcription	Brain Substantia Nigra	brain
40	chr17:34052600-34054600	Weak transcription	Brain Angular Gyrus	brain
41	chr17:34052600-34054600	Genic enhancers	Left Ventricle	heart
42	chr17:34052600-34055000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:34052600-34058600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:34052800-34054600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:34052800-34054600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
46	chr17:34052800-34056600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:34052800-34057600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr17:34052800-34057800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr17:34052800-34058000	Weak transcription	Fetal Brain Male	brain
50	chr17:34052800-34058200	Weak transcription	Aorta	Aorta

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