Variant report

Variant	rs197921
Chromosome Location	chr17:45006040-45006041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44937329..44939889-chr17:45005323..45007178,2	K562	blood:
2	chr17:45003530..45006692-chr17:45016648..45018948,3	K562	blood:
3	chr17:45004362..45006941-chr17:45070896..45073803,2	MCF-7	breast:
4	chr17:44982234..44984014-chr17:45005166..45007066,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11079743	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1625900	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1634270	1.00[EUR][1000 genomes]
rs1638447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638449	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1662595	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1662598	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941147	1.00[EUR][1000 genomes]
rs183199	0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs197933	1.00[EUR][1000 genomes]
rs197934	1.00[EUR][1000 genomes]
rs197940	1.00[EUR][1000 genomes]
rs2018281	1.00[EUR][1000 genomes]
rs2108922	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28377288	1.00[EUR][1000 genomes]
rs28740955	1.00[EUR][1000 genomes]
rs3851783	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4083002	1.00[EUR][1000 genomes]
rs4968289	1.00[EUR][1000 genomes]
rs60458827	1.00[EUR][1000 genomes]
rs7212013	1.00[EUR][1000 genomes]
rs7221149	1.00[EUR][1000 genomes]
rs73316337	1.00[EUR][1000 genomes]
rs73987013	1.00[EUR][1000 genomes]
rs73987030	1.00[EUR][1000 genomes]
rs8064340	1.00[EUR][1000 genomes]
rs8064568	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8071980	1.00[EUR][1000 genomes]
rs8078556	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893406	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9893495	1.00[EUR][1000 genomes]
rs9900809	1.00[EUR][1000 genomes]
rs9910543	1.00[EUR][1000 genomes]
rs9915693	0.86[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45001200-45011400	Weak transcription	Fetal Brain Male	brain
2	chr17:45001400-45006800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:45001400-45006800	Weak transcription	Placenta	Placenta
4	chr17:45001400-45007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:45001400-45009400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:45001600-45008200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:45001600-45008200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:45001600-45020800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:45001800-45007000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr17:45001800-45007200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:45001800-45008200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:45001800-45008200	Weak transcription	HSMMtube	muscle
13	chr17:45002000-45006200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:45002000-45006200	Weak transcription	NH-A	brain
15	chr17:45002000-45006400	Weak transcription	NHDF-Ad	bronchial
16	chr17:45002000-45006600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:45002000-45006800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:45002000-45007000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:45002000-45007000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:45002000-45007600	Weak transcription	Brain Substantia Nigra	brain
21	chr17:45002000-45008400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr17:45002000-45008400	Weak transcription	Brain Angular Gyrus	brain
23	chr17:45002000-45021000	Weak transcription	Fetal Heart	heart
24	chr17:45002200-45006600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:45002200-45006600	Weak transcription	Fetal Kidney	kidney
26	chr17:45002200-45006600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr17:45002200-45006800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:45002200-45007000	Weak transcription	Brain Germinal Matrix	brain
29	chr17:45002200-45007200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:45002200-45007200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr17:45002200-45007600	Weak transcription	Fetal Lung	lung
32	chr17:45002200-45007600	Weak transcription	A549	lung
33	chr17:45002400-45006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:45002400-45006800	Weak transcription	Brain Hippocampus Middle	brain
35	chr17:45002400-45006800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr17:45002400-45006800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:45002400-45007400	Weak transcription	Brain Anterior Caudate	brain
38	chr17:45002600-45007600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:45002800-45006200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:45002800-45006200	Weak transcription	Thymus	Thymus
41	chr17:45002800-45006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:45002800-45006800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr17:45002800-45006800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:45002800-45007000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:45002800-45020000	Strong transcription	Fetal Muscle Leg	muscle
46	chr17:45003000-45006400	Weak transcription	Osteobl	bone
47	chr17:45003000-45006800	Weak transcription	Fetal Brain Female	brain
48	chr17:45003200-45006400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr17:45003600-45006400	Enhancers	Spleen	Spleen
50	chr17:45003600-45007000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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