Variant report

Variant	rs17267561
Chromosome Location	chr1:211540941-211540942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:211540932-211540970	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211528873..211531337-chr1:211538922..211541728,2	K562	blood:
2	chr1:211532398..211536632-chr1:211539285..211542103,4	K562	blood:
3	chr1:211540485..211542540-chr1:211554956..211557564,2	K562	blood:
4	chr1:211539579..211541985-chr1:211556064..211558282,2	K562	blood:

Variant related genes	Relation type
TRAF5	TF binding region
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1046690	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119713	0.81[EUR][1000 genomes]
rs11577134	0.90[CHB][hapmap]
rs11580728	0.90[CHB][hapmap]
rs11803005	0.81[EUR][1000 genomes]
rs12569232	0.90[CHB][hapmap]
rs12723208	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12729996	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12731366	0.89[CEU][hapmap]
rs12733930	0.90[CHB][hapmap]
rs12739630	0.90[CHB][hapmap]
rs12743163	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs12743458	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12752670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12754607	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12754747	0.91[CEU][hapmap];0.81[AFR][1000 genomes]
rs17188916	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17188937	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17189000	0.86[EUR][1000 genomes]
rs17267484	0.91[CEU][hapmap]
rs17267491	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17267554	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]
rs2280079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34027321	0.83[EUR][1000 genomes]
rs34140425	0.83[EUR][1000 genomes]
rs34251608	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34256746	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34418448	0.90[CHB][hapmap]
rs34440485	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34813082	0.81[EUR][1000 genomes]
rs35228985	0.81[EUR][1000 genomes]
rs35711226	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35791308	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3738200	1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41275358	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61848984	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540681	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs6679980	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs67764962	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67772854	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71640006	0.84[EUR][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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211509800-211544200	Weak transcription	HUVEC	blood vessel
2	chr1:211510600-211555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:211514800-211552200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:211515000-211555000	Weak transcription	Hela-S3	cervix
5	chr1:211515000-211555800	Weak transcription	Esophagus	oesophagus
6	chr1:211515200-211543200	Weak transcription	Colonic Mucosa	Colon
7	chr1:211515400-211548400	Weak transcription	Stomach Mucosa	stomach
8	chr1:211519400-211549000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:211519800-211544800	Weak transcription	Fetal Kidney	kidney
10	chr1:211519800-211547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:211519800-211548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:211521200-211550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:211521600-211555200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:211523600-211542800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:211525000-211555600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:211525400-211550200	Weak transcription	NHDF-Ad	bronchial
17	chr1:211525400-211555000	Weak transcription	Fetal Lung	lung
18	chr1:211525600-211548200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:211525600-211550200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:211526400-211542200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:211526400-211546400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:211526600-211555400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:211526800-211550800	Weak transcription	Small Intestine	intestine
24	chr1:211527400-211550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:211528000-211551400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:211528200-211550600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:211528400-211547600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:211528800-211554600	Weak transcription	Psoas Muscle	Psoas
29	chr1:211529400-211550400	Strong transcription	Fetal Thymus	thymus
30	chr1:211529600-211551200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:211530200-211555800	Weak transcription	Pancreas	Pancrea
32	chr1:211530400-211545600	Weak transcription	Lung	lung
33	chr1:211530400-211555200	Weak transcription	Brain Anterior Caudate	brain
34	chr1:211530600-211548800	Weak transcription	Fetal Intestine Small	intestine
35	chr1:211530600-211550000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:211530600-211555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:211530800-211545400	Weak transcription	Fetal Intestine Large	intestine
38	chr1:211531000-211551600	Weak transcription	NHLF	lung
39	chr1:211531200-211550000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:211531200-211550000	Weak transcription	HSMM	muscle
41	chr1:211531600-211542200	Weak transcription	Fetal Brain Male	brain
42	chr1:211531800-211541800	Weak transcription	Brain Substantia Nigra	brain
43	chr1:211532400-211543200	Weak transcription	Liver	Liver
44	chr1:211533400-211543000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:211533400-211543000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:211533400-211545000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:211533400-211547200	Weak transcription	Spleen	Spleen
48	chr1:211533400-211550200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:211533400-211551200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:211533400-211552000	Weak transcription	Muscle Satellite Cultured Cells	--

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