Variant report

Variant	rs17595306
Chromosome Location	chr10:38692067-38692068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:250)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:250 , 50 per page) page: 1 2 3 4 5

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	YY1	chr10:38691991-38692399	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr10:38690756-38693454	GM12892	blood:	n/a	n/a
4	EGR1	chr10:38691971-38692247	K562	blood:	n/a	n/a
5	POLR2A	chr10:38691975-38692406	PANC-1	pancreas:	n/a	n/a
6	IRF1	chr10:38691665-38692303	K562	blood:	n/a	n/a
7	POLR2A	chr10:38691334-38692475	A549	lung:	n/a	n/a
8	CTCF	chr10:38692060-38692210	HPAF	blood vessel:	n/a	n/a
9	CREB1	chr10:38691631-38692233	HepG2	liver:	n/a	n/a
10	CTCF	chr10:38691980-38692130	GM12866	blood:	n/a	n/a
11	PAX5	chr10:38691378-38692687	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:38691577-38692325	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr10:38691525-38692140	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:38691306-38692644	HepG2	liver:	n/a	n/a
15	RFX5	chr10:38691591-38692236	HepG2	liver:	n/a	n/a
16	POU2F2	chr10:38692029-38692766	GM12891	blood:	n/a	n/a
17	ELF1	chr10:38691272-38692385	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:38692007-38692301	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr10:38691256-38692402	Raji	blood:	n/a	n/a
20	TAF1	chr10:38691252-38692547	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:38691359-38692466	HepG2	liver:	n/a	n/a
22	POLR2A	chr10:38691968-38692584	U87	brain:	n/a	n/a
23	REST	chr10:38692033-38692530	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr10:38692060-38692210	GM12875	blood:	n/a	n/a
25	POLR2A	chr10:38691512-38692390	K562	blood:	n/a	n/a
26	POLR2A	chr10:38691308-38692408	K562	blood:	n/a	n/a
27	MYBL2	chr10:38691044-38692400	HepG2	liver:	n/a	n/a
28	USF1	chr10:38692037-38692200	SK-N-SH_RA	brain:	n/a	n/a
29	POLR2A	chr10:38691189-38692410	HepG2	liver:	n/a	n/a
30	POLR2A	chr10:38691468-38692390	MCF-7	breast:	n/a	n/a
31	ZBTB7A	chr10:38691944-38692085	K562	blood:	n/a	n/a
32	MAX	chr10:38692002-38692237	A549	lung:	n/a	n/a
33	POLR2A	chr10:38691377-38693333	GM12891	blood:	n/a	n/a
34	POLR2A	chr10:38690522-38693601	GM12892	blood:	n/a	n/a
35	CTCF	chr10:38691927-38692091	HepG2	liver:	n/a	n/a
36	SP1	chr10:38691321-38692602	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:38691268-38692403	GM18951	blood:	n/a	n/a
38	USF1	chr10:38691537-38692376	A549	lung:	n/a	n/a
39	POU2F2	chr10:38691982-38693379	GM12891	blood:	n/a	n/a
40	POLR2A	chr10:38691969-38692367	U87	brain:	n/a	n/a
41	E2F6	chr10:38691961-38692140	K562	blood:	n/a	n/a
42	POLR2A	chr10:38692026-38692658	H1-hESC	embryonic stem cell:	n/a	n/a
43	HA-E2F1	chr10:38691602-38692236	Hela-S3	cervix:	n/a	n/a
44	BATF	chr10:38691821-38692541	GM12878	blood:	n/a	n/a
45	EP300	chr10:38691533-38692165	K562	blood:	n/a	n/a
46	POLR2A	chr10:38691946-38692331	HUVEC	blood vessel:	n/a	n/a
47	TAF1	chr10:38691283-38692488	HepG2	liver:	n/a	n/a
48	POLR2A	chr10:38691250-38692403	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:38691287-38693460	GM12891	blood:	n/a	n/a
50	POLR2A	chr10:38691290-38692448	SK-N-SH	brain:	n/a	n/a

No data

Variant related genes	Relation type
SEPT7P9	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17595292	0.82[ASN][1000 genomes]
rs2754374	0.82[ASN][1000 genomes]
rs2804632	0.85[ASN][1000 genomes]
rs3932487	0.84[ASN][1000 genomes]
rs4934947	0.85[EUR][1000 genomes]
rs4934948	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61837215	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9730745	0.81[AFR][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
rs17595306	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs17595306	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 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	chr10:38691000-38692200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr10:38691000-38692400	Active TSS	Primary T cells from cord blood	blood
32	chr10:38691000-38692400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr10:38691000-38692400	Active TSS	Fetal Muscle Trunk	muscle
34	chr10:38691000-38692400	Active TSS	Fetal Stomach	stomach
35	chr10:38691000-38692400	Active TSS	Thymus	Thymus
36	chr10:38691000-38692600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr10:38691000-38692600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:38691000-38692600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:38691000-38692600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:38691000-38692600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr10:38691000-38692600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr10:38691000-38692600	Active TSS	Esophagus	oesophagus
43	chr10:38691000-38692600	Active TSS	Fetal Kidney	kidney
44	chr10:38691000-38692600	Active TSS	Fetal Lung	lung
45	chr10:38691000-38692600	Active TSS	Small Intestine	intestine
46	chr10:38691000-38692600	Active TSS	Dnd41	blood
47	chr10:38691000-38692600	Active TSS	Hela-S3	cervix
48	chr10:38691000-38692600	Active TSS	Osteobl	bone
49	chr10:38691000-38692800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:38691000-38692800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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