Variant report

Variant	rs2800551
Chromosome Location	chr10:38645117-38645118
allele	C/T
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	JUND	chr10:38645075-38645363	HepG2	liver:	n/a	chr10:38645266-38645275 chr10:38645288-38645297 chr10:38645141-38645155
2	POLR2A	chr10:38644953-38645345	U87	brain:	n/a	n/a
3	POLR2A	chr10:38644842-38645669	MCF-7	breast:	n/a	n/a
4	POLR2A	chr10:38644896-38645544	GM18951	blood:	n/a	n/a
5	HEY1	chr10:38644907-38645563	K562	blood:	n/a	n/a
6	POLR2A	chr10:38644843-38645934	GM12892	blood:	n/a	n/a
7	JUND	chr10:38644972-38645384	A549	lung:	n/a	chr10:38645266-38645275 chr10:38645288-38645297 chr10:38645141-38645155
8	POLR2A	chr10:38644989-38645396	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr10:38644751-38646067	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:38643240-38646387	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:38644802-38645923	GM12891	blood:	n/a	n/a
12	POLR2A	chr10:38644836-38645949	HUVEC	blood vessel:	n/a	n/a
13	FOXP2	chr10:38645061-38645422	SK-N-MC	brain:	n/a	n/a
14	CTCF	chr10:38644997-38645195	MCF-7	breast:	n/a	n/a
15	TAF1	chr10:38644965-38645687	GM12892	blood:	n/a	n/a
16	SIN3AK20	chr10:38644876-38645888	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:38644914-38645557	A549	lung:	n/a	n/a
18	RFX5	chr10:38645116-38645372	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:38644892-38645541	GM12878	blood:	n/a	n/a
20	SP1	chr10:38644700-38645880	HepG2	liver:	n/a	chr10:38645268-38645277 chr10:38645166-38645175 chr10:38645267-38645276 chr10:38645165-38645177 chr10:38645266-38645278 chr10:38645698-38645710 chr10:38645165-38645177 chr10:38645698-38645710 chr10:38645699-38645708 chr10:38645704-38645711 chr10:38645166-38645180 chr10:38645272-38645282 chr10:38645266-38645278
21	FOSL2	chr10:38644784-38645483	HepG2	liver:	n/a	chr10:38645266-38645275 chr10:38645288-38645297 chr10:38645141-38645155
22	POLR2A	chr10:38645114-38645921	H1-hESC	embryonic stem cell:	n/a	n/a
23	RFX5	chr10:38644958-38645561	SK-N-SH	brain:	n/a	n/a
24	REST	chr10:38644888-38645409	HepG2	liver:	n/a	chr10:38645021-38645041
25	CTCF	chr10:38644980-38645130	Caco-2	colon:	n/a	n/a
26	POLR2A	chr10:38644904-38645541	GM18505	blood:	n/a	n/a
27	TCF12	chr10:38644936-38645256	GM12878	blood:	n/a	chr10:38645134-38645142
28	POLR2A	chr10:38644903-38645534	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:38644856-38645853	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:38644761-38645985	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr10:38644761-38646252	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr10:38644877-38645677	GM12878	blood:	n/a	n/a
33	MYC	chr10:38644943-38645442	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:38644986-38645128	GM19240	blood:	n/a	n/a
35	POLR2A	chr10:38644796-38645578	HepG2	liver:	n/a	n/a
36	SREBP1	chr10:38644956-38645539	HepG2	liver:	n/a	n/a
37	POLR2A	chr10:38644724-38645945	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:38644844-38645177	ECC-1	luminal epithelium:	n/a	n/a
39	BATF	chr10:38645106-38645393	GM12878	blood:	n/a	n/a
40	TAF1	chr10:38644850-38646207	H1-hESC	embryonic stem cell:	n/a	n/a
41	PBX3	chr10:38644972-38645118	GM12878	blood:	n/a	chr10:38645098-38645118
42	POLR2A	chr10:38644811-38645699	U87	brain:	n/a	n/a
43	CTCF	chr10:38645001-38645168	GM12891	blood:	n/a	n/a
44	JUND	chr10:38644909-38645390	HepG2	liver:	n/a	chr10:38645266-38645275 chr10:38645288-38645297 chr10:38645141-38645155
45	POU2F2	chr10:38644905-38645214	GM12878	blood:	n/a	n/a
46	HEY1	chr10:38642929-38646746	HepG2	liver:	n/a	n/a
47	CBX3	chr10:38645112-38645474	K562	blood:	n/a	n/a
48	POLR2A	chr10:38644803-38645939	GM12892	blood:	n/a	n/a
49	PBX3	chr10:38644967-38645409	GM12878	blood:	n/a	chr10:38645098-38645118
50	FOXA1	chr10:38644830-38645285	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38645113-38645163	H1-hESC	embryonic stem cell:	embryo
2	chr10:38645113-38645163	HNPCEpiC	eye:	n/a
3	chr10:38645113-38645163	HIPEpiC	eye:	n/a
4	chr10:38645113-38645163	CMK	blood:	n/a
5	chr10:38645113-38645163	LNCaP	prostate:	n/a
6	chr10:38645113-38645163	Hela-S3	cervix:	n/a
7	chr10:38645113-38645163	K562	blood:	n/a
8	chr10:38645113-38645163	ovcar-3	ovarian:	n/a
9	chr10:38645113-38645163	BJ	skin:	n/a
10	chr10:38645113-38645163	SAEC	small airway:	n/a
11	chr10:38645113-38645163	PrEC	prostate:	n/a
12	chr10:38645113-38645163	Caco-2	colon:	n/a
13	chr10:38645113-38645163	NT2-D1	testis:	n/a
14	chr10:38645113-38645163	ProgFib	skin:	n/a
15	chr10:38645113-38645163	GM12892	blood:	n/a
16	chr10:38645113-38645163	AG04449	skin:	fetal
17	chr10:38645113-38645163	HL-60	blood:	n/a
18	chr10:38645113-38645163	SKMC	muscle:	n/a
19	chr10:38645113-38645163	HRCEpiC	kidney:	n/a
20	chr10:38645113-38645163	SK-N-SH_RA	brain:	n/a
21	chr10:38645113-38645163	BE2_C	brain:	n/a
22	chr10:38645113-38645163	Hepatocyte	liver:	n/a
23	chr10:38645113-38645163	AG09319	gingival:	n/a
24	chr10:38645113-38645163	HCF	heart:	n/a
25	chr10:38645113-38645163	IMR90	lung:	fetal
26	chr10:38645113-38645163	HMEC	breast:	n/a
27	chr10:38645113-38645163	HRPEpiC	eye:	n/a
28	chr10:38645113-38645163	ECC-1	luminal epithelium:	n/a
29	chr10:38645113-38645163	SK-N-MC	brain:	n/a
30	chr10:38645113-38645163	NHDF-neo	bronchial:	n/a
31	chr10:38645113-38645163	T-47D	breast:	n/a
32	chr10:38645113-38645163	NB4	blood:	n/a
33	chr10:38645113-38645163	AG10803	skin:	n/a
34	chr10:38645113-38645163	Jurkat	blood:	n/a
35	chr10:38645113-38645163	GM06990	blood:	n/a
36	chr10:38645113-38645163	AG04450	lung:	fetal
37	chr10:38645113-38645163	NH-A	brain:	n/a
38	chr10:38645113-38645163	PFSK-1	brain:	n/a
39	chr10:38645113-38645163	U87	brain:	n/a
40	chr10:38645113-38645163	HepG2	liver:	n/a
41	chr10:38645113-38645163	HEEpiC	esophagus:	n/a
42	chr10:38645113-38645163	RPTEC	kidney:	n/a
43	chr10:38645113-38645163	NHBE	bronchial:	n/a
44	chr10:38645113-38645163	SK-N-SH	brain:	n/a
45	chr10:38645113-38645163	HRE	kidney:	n/a
46	chr10:38645113-38645163	HCT-116	colon:	n/a
47	chr10:38645113-38645163	AoSMC	blood vessel:	n/a
48	chr10:38645113-38645163	GM19239	blood:	n/a
49	chr10:38645113-38645163	HAEpiC	amniotic membrane:	n/a
50	chr10:38645113-38645163	HCM	heart:	n/a

Variant related genes	Relation type
HSD17B7P2	TF binding region
HSD17B7P2	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17611180	0.80[ASN][1000 genomes]
rs1892144	0.92[ASN][1000 genomes]
rs2145672	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2754353	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2754361	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2754363	0.86[ASN][1000 genomes]
rs2754366	0.90[ASN][1000 genomes]
rs2754370	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2754493	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2754495	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2800473	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2800552	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2800555	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2804622	0.95[ASN][1000 genomes]
rs2804623	0.95[ASN][1000 genomes]
rs2804624	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804637	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2804638	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2804639	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2804641	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2804643	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2804677	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6482064	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9299772	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9418368	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv33710	chr10:38545898-38671289	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv427860	chr10:38588021-38818835	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv895034	chr10:38632352-38743545	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv947859	chr10:38633447-38674546	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2764202	chr10:38641508-39076221	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2800551	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs2800551	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38643600-38647000	Active TSS	HepG2	liver
2	chr10:38644600-38645600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:38644600-38645800	Active TSS	Colon Smooth Muscle	Colon
4	chr10:38644600-38646000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr10:38644600-38646000	Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr10:38644600-38646000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:38644600-38646000	Active TSS	Fetal Muscle Trunk	muscle
8	chr10:38644600-38646000	Active TSS	A549	lung
9	chr10:38644600-38646200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr10:38644600-38646200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr10:38644600-38646200	Active TSS	Liver	Liver
12	chr10:38644600-38646200	Active TSS	Brain Anterior Caudate	brain
13	chr10:38644600-38646200	Active TSS	Brain Hippocampus Middle	brain
14	chr10:38644600-38646200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr10:38644600-38646200	Active TSS	Fetal Brain Female	brain
16	chr10:38644600-38646200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr10:38644600-38646400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:38644600-38646400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr10:38644600-38646400	Active TSS	Fetal Kidney	kidney
20	chr10:38644600-38646400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr10:38644600-38646400	Active TSS	HSMMtube	muscle
22	chr10:38644600-38646600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:38644600-38646800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:38644600-38647000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr10:38644600-38647800	Active TSS	GM12878-XiMat	blood
26	chr10:38644800-38645200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:38644800-38645200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr10:38644800-38645200	Flanking Active TSS	Fetal Thymus	thymus
29	chr10:38644800-38645200	Flanking Active TSS	HMEC	breast
30	chr10:38644800-38645200	Flanking Active TSS	HUVEC	blood vessel
31	chr10:38644800-38645600	Active TSS	Aorta	Aorta
32	chr10:38644800-38645600	Enhancers	Stomach Mucosa	stomach
33	chr10:38644800-38645800	Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr10:38644800-38645800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:38644800-38645800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:38644800-38645800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:38644800-38645800	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr10:38644800-38645800	Active TSS	Esophagus	oesophagus
39	chr10:38644800-38645800	Active TSS	Placenta	Placenta
40	chr10:38644800-38645800	Active TSS	Pancreas	Pancrea
41	chr10:38644800-38645800	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr10:38644800-38646000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:38644800-38646000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr10:38644800-38646000	Active TSS	Primary T cells from cord blood	blood
45	chr10:38644800-38646000	Active TSS	Primary hematopoietic stem cells	blood
46	chr10:38644800-38646000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:38644800-38646000	Active TSS	Adipose Nuclei	Adipose
48	chr10:38644800-38646000	Active TSS	Brain Germinal Matrix	brain
49	chr10:38644800-38646000	Active TSS	Brain Substantia Nigra	brain
50	chr10:38644800-38646000	Active TSS	Fetal Intestine Large	intestine

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