Variant report

Variant	rs11737402
Chromosome Location	chr4:88291439-88291440
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	SPI1	chr4:88291311-88291534	GM12878	blood:	n/a	chr4:88291426-88291439 chr4:88291439-88291448 chr4:88291429-88291438

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88288892..88291753-chr4:88294244..88297136,3	MCF-7	breast:

Variant related genes	Relation type
HSD17B11	TF binding region
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11097131	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11097147	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11721653	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11726577	0.81[EUR][1000 genomes]
rs11734330	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11930147	0.89[EUR][1000 genomes]
rs11930151	0.89[EUR][1000 genomes]
rs11939415	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11946007	0.89[EUR][1000 genomes]
rs12505484	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55895035	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56141705	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56258452	0.89[EUR][1000 genomes]
rs56284919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385009	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56390566	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56788263	0.88[EUR][1000 genomes]
rs58360495	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60597105	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305726	0.87[EUR][1000 genomes]
rs62305728	0.89[EUR][1000 genomes]
rs62305729	0.89[EUR][1000 genomes]
rs62305730	0.87[EUR][1000 genomes]
rs62305731	0.89[EUR][1000 genomes]
rs62305732	0.89[EUR][1000 genomes]
rs62305753	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62319084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319094	1.00[ASN][1000 genomes]
rs72652029	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7664717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665549	0.92[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671557	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7674658	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7690170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3436888	chr4:88291128-88295326	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11737402	HSD17B13	cis	Nerve Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:88256200-88292800	Weak transcription	Gastric	stomach
5	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
6	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:88266400-88292200	Weak transcription	Fetal Brain Male	brain
8	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:88267600-88292400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
11	chr4:88268000-88292200	Weak transcription	Ovary	ovary
12	chr4:88271200-88298000	Weak transcription	HSMMtube	muscle
13	chr4:88273000-88292200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
15	chr4:88274200-88296200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:88274400-88296400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr4:88274400-88297000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:88274600-88296200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr4:88274600-88296400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:88274600-88296600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:88274600-88297200	Strong transcription	Fetal Intestine Large	intestine
23	chr4:88274800-88296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:88274800-88298200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:88275200-88292200	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:88275200-88292400	Weak transcription	GM12878-XiMat	blood
27	chr4:88275200-88296200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:88275200-88299400	Strong transcription	Dnd41	blood
29	chr4:88276000-88292400	Weak transcription	NHDF-Ad	bronchial
30	chr4:88276200-88292400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:88276200-88292600	Weak transcription	NHLF	lung
32	chr4:88276200-88296000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:88276400-88292200	Weak transcription	Osteobl	bone
35	chr4:88276400-88292400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:88276400-88295800	Weak transcription	HMEC	breast
37	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:88277000-88292400	Weak transcription	Brain Anterior Caudate	brain
39	chr4:88278000-88295800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr4:88278200-88292800	Weak transcription	Esophagus	oesophagus
41	chr4:88278400-88292400	Weak transcription	HSMM	muscle
42	chr4:88278600-88292600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:88278600-88292600	Weak transcription	Stomach Mucosa	stomach
44	chr4:88278800-88292400	Weak transcription	Brain Angular Gyrus	brain
45	chr4:88278800-88297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:88279800-88297200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:88280200-88296400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:88280600-88296200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:88281800-88292200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:88281800-88292200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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