Variant report

Variant	rs286595
Chromosome Location	chr5:154348552-154348553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154236951..154238944-chr5:154345833..154349110,3	MCF-7	breast:
2	chr5:154347106..154348977-chr5:154351843..154353596,2	MCF-7	breast:
3	chr5:154342000..154345250-chr5:154346858..154348980,3	MCF-7	breast:
4	chr5:154346229..154348677-chr5:154350514..154352609,2	K562	blood:
5	chr5:154328825..154331807-chr5:154348446..154350262,2	K562	blood:

Variant related genes	Relation type
ENSG00000155508	Chromatin interaction
ENSG00000170271	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11167702	0.85[MEX][hapmap]
rs11740031	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740589	0.93[ASW][hapmap];0.85[CEU][hapmap];0.89[GIH][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes]
rs11743080	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158133	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176273	0.89[MEX][hapmap]
rs286596	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286622	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853757	0.96[CEU][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes]
rs593637	0.82[YRI][hapmap]
rs62382248	1.00[ASN][1000 genomes]
rs6877876	1.00[ASN][1000 genomes]
rs7328	0.96[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715693	1.00[JPT][hapmap]
rs7719709	1.00[JPT][hapmap]
rs903837	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs286595	KIF4B	cis	parietal	SCAN
rs286595	LARP1	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154321800-154352200	Weak transcription	Right Ventricle	heart
2	chr5:154322000-154350000	Weak transcription	Fetal Brain Male	brain
3	chr5:154322400-154349600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:154322600-154364600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:154327600-154351600	Weak transcription	Fetal Heart	heart
6	chr5:154335600-154350600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:154335800-154349000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:154336000-154349000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:154336000-154349400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:154336200-154348800	Strong transcription	Fetal Intestine Large	intestine
11	chr5:154336200-154349000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:154336200-154349400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:154336600-154348800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:154336800-154350600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:154338400-154351800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:154339200-154350400	Weak transcription	Esophagus	oesophagus
17	chr5:154339200-154355400	Weak transcription	Gastric	stomach
18	chr5:154339200-154361200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:154339400-154350400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:154339400-154355400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:154339400-154355400	Weak transcription	Pancreas	Pancrea
22	chr5:154339400-154355600	Weak transcription	Lung	lung
23	chr5:154339600-154349800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:154339600-154356200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:154340200-154357200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:154341400-154366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:154341600-154349600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:154342400-154349400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:154342800-154363400	Weak transcription	Brain Germinal Matrix	brain
30	chr5:154343000-154348800	Strong transcription	Primary T cells from cord blood	blood
31	chr5:154343400-154356800	Weak transcription	Hela-S3	cervix
32	chr5:154343600-154349400	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:154344200-154348800	Strong transcription	Fetal Lung	lung
34	chr5:154344800-154356400	Weak transcription	HMEC	breast
35	chr5:154345000-154348800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr5:154345000-154357000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:154345200-154348800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:154345200-154348800	Strong transcription	Fetal Thymus	thymus
39	chr5:154345200-154349000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:154345400-154348600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:154345400-154349000	Strong transcription	Primary B cells from cord blood	blood
42	chr5:154345400-154349200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr5:154345600-154348600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:154345600-154348800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:154345600-154348800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:154345600-154348800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr5:154345600-154349000	Strong transcription	Liver	Liver
48	chr5:154345600-154349200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:154345800-154348800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:154345800-154348800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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