Variant report

Variant	rs11582143
Chromosome Location	chr1:211516976-211516977
allele	C/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	FOS	chr1:211516966-211517206	MCF10A-Er-Src	breast:	n/a	chr1:211517151-211517159 chr1:211517150-211517160 chr1:211517152-211517159
2	FOSL1	chr1:211516832-211517432	HCT-116	colon:	n/a	chr1:211517151-211517159 chr1:211517150-211517160 chr1:211517152-211517159

No.	Distal block	Cell Line	Cell type
1	chr1:211516288..211519071-chr1:211523168..211524871,2	K562	blood:
2	chr1:211513214..211514747-chr1:211516722..211518694,2	MCF-7	breast:
3	chr1:211507738..211509573-chr1:211515799..211517354,2	K562	blood:
4	chr1:211511449..211513491-chr1:211515653..211518862,3	K562	blood:

Variant related genes	Relation type
TRAF5	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11577985	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs11581989	0.87[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs12041498	0.94[CEU][hapmap]
rs17017361	0.87[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs17017394	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17017399	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17017431	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]
rs17017432	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17017441	0.86[ASW][hapmap];0.94[LWK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs17017451	0.86[ASW][hapmap];0.85[CHD][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.89[YRI][hapmap]
rs34318448	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654731	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56380051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61848978	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848980	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61848982	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61851029	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61851030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61851033	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6666324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699139	0.85[YRI][hapmap]
rs7514863	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7523875	1.00[CHD][hapmap]
rs7529673	0.82[AFR][1000 genomes]
rs7538100	0.86[ASW][hapmap];0.85[CHD][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.89[YRI][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11582143	LINC00467	cis	Muscle Skeletal	GTEx
rs11582143	CTSE	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211502400-211519000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:211502600-211519000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:211505000-211518800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:211505000-211530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:211505800-211529800	Weak transcription	Ovary	ovary
6	chr1:211506000-211517200	Weak transcription	Fetal Lung	lung
7	chr1:211506000-211518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:211506200-211517400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:211507800-211519000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:211508400-211519000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:211509200-211518800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:211509400-211519000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:211509600-211519000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:211509800-211517200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:211509800-211517800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:211509800-211518800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:211509800-211521600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:211509800-211529200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:211509800-211544200	Weak transcription	HUVEC	blood vessel
20	chr1:211510400-211520800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:211510600-211555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:211510800-211524000	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr1:211511200-211517200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:211511200-211518800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:211511400-211528600	Weak transcription	Right Atrium	heart
26	chr1:211511600-211533000	Weak transcription	Left Ventricle	heart
27	chr1:211511800-211518800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:211512200-211521600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:211513000-211517200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:211513200-211518400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:211513200-211518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:211513200-211520800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:211513200-211526600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:211513400-211517400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:211513400-211517600	Weak transcription	Fetal Thymus	thymus
36	chr1:211513400-211518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:211513400-211518800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:211513400-211518800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:211513400-211519000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:211513400-211519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:211513400-211524800	Weak transcription	A549	lung
42	chr1:211513400-211527000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:211513400-211528800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:211513600-211517000	Weak transcription	Small Intestine	intestine
45	chr1:211513600-211520200	Weak transcription	HSMMtube	muscle
46	chr1:211514400-211526600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:211514600-211517200	Weak transcription	Fetal Intestine Large	intestine
48	chr1:211514600-211517400	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:211514600-211518600	Weak transcription	Lung	lung
50	chr1:211514600-211518800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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