Variant report

Variant	rs2349646
Chromosome Location	chr17:17017170-17017171
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17011246..17012827-chr17:17014614..17017458,3	K562	blood:
2	chr17:17014931..17017643-chr17:17019821..17021328,2	K562	blood:
3	chr17:17016476..17019464-chr17:17021686..17024565,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10852847	1.00[ASN][1000 genomes]
rs11078374	1.00[ASN][1000 genomes]
rs11867934	0.94[AMR][1000 genomes]
rs11871902	1.00[ASN][1000 genomes]
rs1974721	0.80[AMR][1000 genomes]
rs2090018	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2271520	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs4247118	0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247120	1.00[ASN][1000 genomes]
rs4275914	1.00[ASN][1000 genomes]
rs4514740	1.00[ASN][1000 genomes]
rs4985696	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985701	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4985702	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4985717	1.00[ASN][1000 genomes]
rs4985718	0.83[AMR][1000 genomes]
rs4985740	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985746	1.00[ASN][1000 genomes]
rs4985778	1.00[ASN][1000 genomes]
rs6502563	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7206981	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7207485	0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208929	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208973	0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7217091	0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221842	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7222311	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8064550	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8072184	1.00[ASN][1000 genomes]
rs8073842	1.00[ASN][1000 genomes]
rs8079563	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893911	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898995	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9908767	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914671	0.83[AMR][1000 genomes];1.00[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	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17000200-17018200	Weak transcription	NH-A	brain
2	chr17:17002600-17023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr17:17007800-17021000	Weak transcription	HepG2	liver
5	chr17:17008000-17017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
7	chr17:17009400-17020600	Enhancers	Lung	lung
8	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:17010200-17017200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr17:17010200-17021600	Weak transcription	Dnd41	blood
11	chr17:17010200-17025000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr17:17010200-17025000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:17010400-17024000	Enhancers	Primary B cells from peripheral blood	blood
14	chr17:17010400-17025200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:17011000-17019200	Enhancers	Primary B cells from cord blood	blood
16	chr17:17011200-17028800	Weak transcription	Fetal Brain Female	brain
17	chr17:17011400-17021600	Weak transcription	Aorta	Aorta
18	chr17:17011800-17017800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr17:17011800-17018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:17012200-17018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:17012400-17018000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr17:17012400-17018000	Weak transcription	Brain Germinal Matrix	brain
24	chr17:17012600-17023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:17012800-17017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:17013200-17017800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:17013600-17017800	Weak transcription	Liver	Liver
28	chr17:17013600-17018600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr17:17014000-17017800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:17014000-17017800	Weak transcription	Small Intestine	intestine
31	chr17:17014000-17018000	Weak transcription	Fetal Thymus	thymus
32	chr17:17014000-17018400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:17014000-17022200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr17:17014200-17017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:17014200-17017600	Weak transcription	Fetal Kidney	kidney
36	chr17:17014200-17017800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:17014200-17017800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:17014200-17018000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:17014200-17018000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:17014200-17018000	Weak transcription	Thymus	Thymus
41	chr17:17014200-17018200	Weak transcription	Colon Smooth Muscle	Colon
42	chr17:17014200-17018400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:17014200-17019000	Enhancers	Fetal Lung	lung
44	chr17:17014200-17019400	Weak transcription	Hela-S3	cervix
45	chr17:17014400-17017400	Weak transcription	Osteobl	bone
46	chr17:17014400-17017600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr17:17014400-17018000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:17014400-17018000	Weak transcription	Colonic Mucosa	Colon
49	chr17:17014400-17018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr17:17014400-17018400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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