Variant report

Variant	rs17017431
Chromosome Location	chr1:211543694-211543695
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211542319..211548394-chr1:211548704..211553201,8	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11577985	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11581989	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs11582143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12041498	0.94[CEU][hapmap]
rs17017361	1.00[CEU][hapmap]
rs17017394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17017399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17017432	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]
rs17017441	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17017451	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34318448	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3738203	0.82[AFR][1000 genomes]
rs55654731	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56380051	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61848978	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61848980	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61848982	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61851029	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61851030	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61851033	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6666324	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6699139	0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7514863	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7529673	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7533617	0.80[AFR][1000 genomes]
rs7538100	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7547352	0.82[AFR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17017431	LINC00467	cis	Muscle Skeletal	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr1:211515400-211548400	Weak transcription	Stomach Mucosa	stomach
7	chr1:211519400-211549000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:211519800-211544800	Weak transcription	Fetal Kidney	kidney
9	chr1:211519800-211547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:211519800-211548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:211521200-211550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:211521600-211555200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:211525000-211555600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:211525400-211550200	Weak transcription	NHDF-Ad	bronchial
15	chr1:211525400-211555000	Weak transcription	Fetal Lung	lung
16	chr1:211525600-211548200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:211525600-211550200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:211526400-211546400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:211526600-211555400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:211526800-211550800	Weak transcription	Small Intestine	intestine
21	chr1:211527400-211550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:211528000-211551400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:211528200-211550600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:211528400-211547600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:211528800-211554600	Weak transcription	Psoas Muscle	Psoas
26	chr1:211529400-211550400	Strong transcription	Fetal Thymus	thymus
27	chr1:211529600-211551200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:211530200-211555800	Weak transcription	Pancreas	Pancrea
29	chr1:211530400-211545600	Weak transcription	Lung	lung
30	chr1:211530400-211555200	Weak transcription	Brain Anterior Caudate	brain
31	chr1:211530600-211548800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:211530600-211550000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:211530600-211555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:211530800-211545400	Weak transcription	Fetal Intestine Large	intestine
35	chr1:211531000-211551600	Weak transcription	NHLF	lung
36	chr1:211531200-211550000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:211531200-211550000	Weak transcription	HSMM	muscle
38	chr1:211533400-211545000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:211533400-211547200	Weak transcription	Spleen	Spleen
40	chr1:211533400-211550200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:211533400-211551200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:211533400-211552000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:211533800-211554800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:211534600-211544400	Weak transcription	NH-A	brain
45	chr1:211534600-211545400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:211534600-211546200	Weak transcription	Placenta	Placenta
47	chr1:211534600-211547400	Weak transcription	HSMMtube	muscle
48	chr1:211534600-211555800	Weak transcription	Gastric	stomach
49	chr1:211535000-211549800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:211535000-211555000	Weak transcription	A549	lung

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