Variant report

Variant	rs61837215
Chromosome Location	chr10:38691719-38691720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:307)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:38691146-38693403	GM12891	blood:	n/a	n/a
2	NFYB	chr10:38691649-38692015	GM12878	blood:	n/a	n/a
3	RXRA	chr10:38691500-38691940	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:38690756-38693454	GM12892	blood:	n/a	n/a
5	IRF1	chr10:38691665-38692303	K562	blood:	n/a	n/a
6	POLR2A	chr10:38691434-38691854	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr10:38691334-38692475	A549	lung:	n/a	n/a
8	TAF1	chr10:38691599-38691856	SK-N-SH	brain:	n/a	n/a
9	TAF1	chr10:38691410-38691903	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr10:38691631-38692233	HepG2	liver:	n/a	n/a
11	CHD2	chr10:38691697-38691870	K562	blood:	n/a	n/a
12	PAX5	chr10:38691378-38692687	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:38691577-38692325	MCF10A-Er-Src	breast:	n/a	n/a
14	MXI1	chr10:38691525-38692140	HepG2	liver:	n/a	n/a
15	POLR2A	chr10:38691306-38692644	HepG2	liver:	n/a	n/a
16	RFX5	chr10:38691591-38692236	HepG2	liver:	n/a	n/a
17	CTCF	chr10:38691700-38691850	GM12866	blood:	n/a	n/a
18	ELF1	chr10:38691272-38692385	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:38691470-38691865	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr10:38691256-38692402	Raji	blood:	n/a	n/a
21	CBX3	chr10:38691565-38691927	K562	blood:	n/a	n/a
22	TAF1	chr10:38691252-38692547	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:38691359-38692466	HepG2	liver:	n/a	n/a
24	CHD2	chr10:38691350-38691973	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:38691176-38691890	U87	brain:	n/a	n/a
26	TCF12	chr10:38691322-38692054	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:38691512-38692390	K562	blood:	n/a	n/a
28	YY1	chr10:38691648-38691943	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr10:38691308-38692408	K562	blood:	n/a	n/a
30	MYBL2	chr10:38691044-38692400	HepG2	liver:	n/a	n/a
31	CTCF	chr10:38691526-38691806	K562	blood:	n/a	n/a
32	GABPA	chr10:38691461-38691721	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr10:38691189-38692410	HepG2	liver:	n/a	n/a
34	RCOR1	chr10:38691604-38691855	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:38691468-38692390	MCF-7	breast:	n/a	n/a
36	CTCF	chr10:38691600-38691750	AoAF	blood vessel:	n/a	n/a
37	POLR2A	chr10:38691377-38693333	GM12891	blood:	n/a	n/a
38	CTCF	chr10:38691488-38691793	A549	lung:	n/a	n/a
39	MAX	chr10:38691357-38691819	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:38690522-38693601	GM12892	blood:	n/a	n/a
41	SP1	chr10:38691321-38692602	GM12878	blood:	n/a	n/a
42	POLR2A	chr10:38691268-38692403	GM18951	blood:	n/a	n/a
43	USF1	chr10:38691537-38692376	A549	lung:	n/a	n/a
44	MAFK	chr10:38691615-38691876	K562	blood:	n/a	n/a
45	USF1	chr10:38691696-38692021	A549	lung:	n/a	n/a
46	HA-E2F1	chr10:38691602-38692236	Hela-S3	cervix:	n/a	n/a
47	TAF1	chr10:38691625-38691926	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr10:38691680-38691830	AG04449	skin:	n/a	n/a
49	POLR2A	chr10:38691394-38692027	Hela-S3	cervix:	n/a	n/a
50	EP300	chr10:38691533-38692165	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
SEPT7P9	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11511146	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17595306	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17595425	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17595460	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17611180	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17611404	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1892144	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2145672	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2754353	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2754363	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2754366	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2754370	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2800473	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2800555	0.87[EUR][1000 genomes]
rs2804622	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2804623	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2804624	0.85[AFR][1000 genomes]
rs2804631	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2804632	0.81[AFR][1000 genomes]
rs2804637	0.87[EUR][1000 genomes]
rs2804641	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2804643	0.85[EUR][1000 genomes]
rs2804677	0.81[ASN][1000 genomes]
rs3930236	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4934947	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4934948	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9340247	0.80[AFR][1000 genomes]
rs9340277	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9418368	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9730745	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1048953	chr10:38645824-39074038	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv428230	chr10:38652001-38818835	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757379	chr10:38677023-38978680	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759744	chr10:38677023-39154935	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv947860	chr10:38678275-38747483	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv895035	chr10:38678941-38739427	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv895036	chr10:38678941-38741100	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv895037	chr10:38678941-38741777	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895038	chr10:38678941-38890240	ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1036840	chr10:38682579-39074038	ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv948258	chr10:38683949-38693538	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv540569	chr10:38689167-38769822	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61837215	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs61837215	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38690000-38692600	Active TSS	HepG2	liver
2	chr10:38690400-38692600	Active TSS	Duodenum Mucosa	Duodenum
3	chr10:38690400-38692600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:38690400-38692600	Active TSS	Pancreas	Pancrea
5	chr10:38690400-38692600	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr10:38690400-38692800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:38690400-38692800	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr10:38690400-38692800	Active TSS	Fetal Intestine Small	intestine
9	chr10:38690400-38692800	Active TSS	GM12878-XiMat	blood
10	chr10:38690400-38693000	Active TSS	Liver	Liver
11	chr10:38690600-38692600	Active TSS	Fetal Intestine Large	intestine
12	chr10:38690600-38692600	Active TSS	Rectal Smooth Muscle	rectum
13	chr10:38690600-38692800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:38690600-38692800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr10:38690600-38692800	Active TSS	Brain Anterior Caudate	brain
16	chr10:38690600-38692800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:38690600-38693000	Active TSS	Colonic Mucosa	Colon
18	chr10:38690600-38693000	Active TSS	HSMM	muscle
19	chr10:38690800-38692200	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr10:38690800-38692600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:38690800-38692600	Active TSS	NHLF	lung
22	chr10:38690800-38692800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr10:38690800-38692800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:38690800-38692800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr10:38690800-38692800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr10:38690800-38693000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:38690800-38693000	Active TSS	Right Ventricle	heart
28	chr10:38690800-38693000	Active TSS	A549	lung
29	chr10:38690800-38693000	Active TSS	K562	blood
30	chr10:38691000-38691800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr10:38691000-38691800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr10:38691000-38692200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr10:38691000-38692400	Active TSS	Primary T cells from cord blood	blood
34	chr10:38691000-38692400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr10:38691000-38692400	Active TSS	Fetal Muscle Trunk	muscle
36	chr10:38691000-38692400	Active TSS	Fetal Stomach	stomach
37	chr10:38691000-38692400	Active TSS	Thymus	Thymus
38	chr10:38691000-38692600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr10:38691000-38692600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:38691000-38692600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:38691000-38692600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:38691000-38692600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr10:38691000-38692600	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr10:38691000-38692600	Active TSS	Esophagus	oesophagus
45	chr10:38691000-38692600	Active TSS	Fetal Kidney	kidney
46	chr10:38691000-38692600	Active TSS	Fetal Lung	lung
47	chr10:38691000-38692600	Active TSS	Small Intestine	intestine
48	chr10:38691000-38692600	Active TSS	Dnd41	blood
49	chr10:38691000-38692600	Active TSS	Hela-S3	cervix
50	chr10:38691000-38692600	Active TSS	Osteobl	bone

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