Variant report

Variant	rs2247325
Chromosome Location	chr6:167369992-167369993
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	ELF1	chr6:167369482-167370423	GM12878	blood:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167369743-167369752
2	TCF3	chr6:167369934-167370086	GM12878	blood:	n/a	n/a
3	MAX	chr6:167369461-167370734	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr6:167369513-167371558	HepG2	liver:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167371353-167371365 chr6:167369773-167369782
5	POLR2A	chr6:167369856-167370162	Hela-S3	cervix:	n/a	n/a
6	USF1	chr6:167369958-167370312	SK-N-SH_RA	brain:	n/a	chr6:167370180-167370196
7	ETS1	chr6:167369887-167370420	K562	blood:	n/a	chr6:167370099-167370110
8	EGR1	chr6:167369907-167370262	GM12878	blood:	n/a	chr6:167370097-167370110 chr6:167370242-167370251 chr6:167370098-167370107 chr6:167370097-167370110 chr6:167370007-167370020
9	NFIC	chr6:167369930-167372152	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:167369758-167370521	ProgFib	skin:	n/a	n/a
11	POLR2A	chr6:167369715-167370484	HUVEC	blood vessel:	n/a	n/a
12	SIN3AK20	chr6:167369869-167370233	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr6:167369802-167372163	HepG2	liver:	n/a	n/a
14	EGR1	chr6:167369782-167370341	MCF-7	breast:	n/a	chr6:167370097-167370110 chr6:167370242-167370251 chr6:167370098-167370107 chr6:167370097-167370110 chr6:167370007-167370020
15	HEY1	chr6:167369832-167370417	HepG2	liver:	n/a	chr6:167369857-167369872
16	POLR2A	chr6:167369824-167370498	SK-N-SH	brain:	n/a	n/a
17	MXI1	chr6:167368808-167371038	SK-N-SH	brain:	n/a	n/a
18	EGR1	chr6:167369766-167370243	ECC-1	luminal epithelium:	n/a	chr6:167370097-167370110 chr6:167369766-167369779 chr6:167370098-167370107 chr6:167370097-167370110 chr6:167370007-167370020
19	CHD2	chr6:167369687-167370345	Hela-S3	cervix:	n/a	chr6:167370249-167370259 chr6:167370153-167370163 chr6:167370255-167370262
20	SIN3AK20	chr6:167369832-167370358	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:167369525-167371253	K562	blood:	n/a	n/a
22	PML	chr6:167369825-167370425	MCF-7	breast:	n/a	n/a
23	TBP	chr6:167369577-167370395	K562	blood:	n/a	n/a
24	YY1	chr6:167369620-167370276	GM12878	blood:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167369773-167369782
25	POLR2A	chr6:167369787-167370387	HUVEC	blood vessel:	n/a	n/a
26	SIN3AK20	chr6:167369479-167370403	K562	blood:	n/a	n/a
27	TAF1	chr6:167369702-167370127	A549	lung:	n/a	n/a
28	FOSL2	chr6:167369802-167371143	HepG2	liver:	n/a	n/a
29	NFIC	chr6:167369776-167372186	HepG2	liver:	n/a	n/a
30	RCOR1	chr6:167369896-167370589	K562	blood:	n/a	n/a
31	BACH1	chr6:167369850-167370482	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr6:167369694-167370037	H1-hESC	embryonic stem cell:	n/a	n/a
33	NR2F2	chr6:167369989-167370784	K562	blood:	n/a	n/a
34	MYBL2	chr6:167369501-167372122	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:167368638-167371430	GM12892	blood:	n/a	n/a
36	YY1	chr6:167369529-167370119	ECC-1	luminal epithelium:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167369773-167369782
37	TAF1	chr6:167369893-167370550	K562	blood:	n/a	n/a
38	TBL1XR1	chr6:167369889-167370802	K562	blood:	n/a	n/a
39	ZNF263	chr6:167368679-167371080	HEK293-T-REx	kidney:	n/a	n/a
40	POLR2A	chr6:167369846-167370367	Hela-S3	cervix:	n/a	n/a
41	ELF1	chr6:167369639-167370040	HepG2	liver:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167369743-167369752
42	MAX	chr6:167369667-167370337	A549	lung:	n/a	n/a
43	CREB1	chr6:167369344-167371588	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:167369772-167370409	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr6:167369515-167370457	K562	blood:	n/a	n/a
46	POLR2A	chr6:167369826-167370337	HCT-116	colon:	n/a	n/a
47	STAT5A	chr6:167369740-167370021	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:167369458-167370409	H1-neurons	neurons:	n/a	n/a
49	USF1	chr6:167369916-167370295	SK-N-SH_RA	brain:	n/a	chr6:167370180-167370196
50	ELF1	chr6:167368614-167371195	GM12878	blood:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167370741-167370750 chr6:167368958-167368969 chr6:167370740-167370751 chr6:167370740-167370751 chr6:167369743-167369752 chr6:167369479-167369491

No.	Distal block	Cell Line	Cell type
1	chr6:167369620..167371640-chr6:167412068..167415220,3	K562	blood:
2	chr6:167364990..167367805-chr6:167369090..167372947,3	K562	blood:
3	chr6:167368436..167372370-chr6:167409956..167415121,7	MCF-7	breast:
4	chr6:167368335..167372073-chr6:167409735..167414257,6	K562	blood:
5	chr6:167274608..167276505-chr6:167368344..167370567,2	MCF-7	breast:
6	chr6:167368539..167373039-chr6:167409933..167412837,4	MCF-7	breast:

Variant related genes	Relation type
RNASET2	TF binding region
ENSG00000249141	TF binding region
ENSG00000026297	Chromatin interaction
ENSG00000265828	Chromatin interaction
ENSG00000071242	Chromatin interaction
ENSG00000227598	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000272980	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1130033	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12055488	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12212247	0.84[ASN][1000 genomes]
rs1794696	0.89[ASN][1000 genomes]
rs1951459	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2149093	0.96[ASN][1000 genomes]
rs2247314	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2247315	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2345568	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs239935	0.86[ASN][1000 genomes]
rs2757039	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2757041	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2757042	0.97[ASN][1000 genomes]
rs2757053	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2769352	0.92[ASN][1000 genomes]
rs364451	0.88[ASN][1000 genomes]
rs3963512	0.84[EUR][1000 genomes]
rs398278	0.91[ASN][1000 genomes]
rs404222	0.89[ASN][1000 genomes]
rs408080	0.86[ASN][1000 genomes]
rs427824	0.88[ASN][1000 genomes]
rs444988	0.90[ASN][1000 genomes]
rs4710149	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6929466	0.83[ASN][1000 genomes]
rs7750593	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs933243	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9347170	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9348211	0.92[ASN][1000 genomes]
rs9355610	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9366078	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9459836	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS 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 miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2247325	RNASET2	Cis_1M	lymphoblastoid	RTeQTL
rs2247325	RNASET2	cis	Whole Blood	GTEx
rs2247325	RNASET2	cis	Esophagus Mucosa	GTEx
rs2247325	AL133458.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167367200-167372000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:167368000-167370400	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr6:167368200-167370200	Active TSS	GM12878-XiMat	blood
4	chr6:167368200-167370800	Active TSS	Primary T cells from cord blood	blood
5	chr6:167368400-167370200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:167368400-167371000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:167368600-167370200	Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr6:167368600-167370400	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr6:167368600-167370400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
10	chr6:167368600-167370600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:167368600-167370600	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:167368600-167370600	Active TSS	Fetal Intestine Small	intestine
13	chr6:167368600-167370800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr6:167368600-167370800	Active TSS	Small Intestine	intestine
15	chr6:167368600-167371000	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr6:167368600-167371200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:167368800-167370400	Active TSS	Fetal Kidney	kidney
20	chr6:167368800-167370600	Active TSS	Primary B cells from peripheral blood	blood
21	chr6:167368800-167370800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:167368800-167370800	Active TSS	Hela-S3	cervix
23	chr6:167368800-167371000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:167368800-167371000	Active TSS	Fetal Intestine Large	intestine
25	chr6:167368800-167371200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:167368800-167371200	Active TSS	HSMM	muscle
27	chr6:167369000-167370000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:167369000-167370200	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:167369000-167370400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:167369000-167370400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:167369000-167370600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:167369000-167370600	Active TSS	Gastric	stomach
33	chr6:167369000-167370600	Active TSS	NHLF	lung
34	chr6:167369000-167370800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:167369000-167370800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:167369000-167370800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:167369000-167370800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr6:167369000-167371000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:167369000-167371000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:167369000-167371000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:167369000-167371000	Active TSS	NHDF-Ad	bronchial
42	chr6:167369000-167371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:167369000-167371400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr6:167369200-167370200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr6:167369200-167370600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:167369200-167370600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
47	chr6:167369200-167370600	Enhancers	Fetal Brain Male	brain
48	chr6:167369200-167370800	Active TSS	Aorta	Aorta
49	chr6:167369200-167370800	Active TSS	Esophagus	oesophagus
50	chr6:167369200-167370800	Active TSS	Fetal Lung	lung

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