Variant report

Variant	rs67770259
Chromosome Location	chr15:93257749-93257750
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	YY1	chr15:93257717-93258324	SK-N-SH	brain:	n/a	chr15:93258147-93258161 chr15:93258222-93258230 chr15:93257946-93257955 chr15:93257906-93257920 chr15:93258219-93258241 chr15:93258108-93258119
2	USF1	chr15:93257671-93258294	A549	lung:	n/a	n/a
3	CTCF	chr15:93257720-93257870	HFF	foreskin:	n/a	chr15:93257849-93257862 chr15:93257847-93257865 chr15:93257853-93257862
4	HA-E2F1	chr15:93257484-93258443	MCF-7	breast:	n/a	chr15:93257842-93257854 chr15:93258165-93258172 chr15:93258160-93258175 chr15:93258112-93258122 chr15:93258211-93258226
5	GABPA	chr15:93257735-93258169	H1-hESC	embryonic stem cell:	n/a	chr15:93257881-93257890
6	MAX	chr15:93257743-93258435	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:93257700-93257850	HAc	cerebellar:	n/a	n/a
8	BACH1	chr15:93257518-93258323	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr15:93257686-93258352	A549	lung:	n/a	n/a
10	RAD21	chr15:93257267-93258622	MCF-7	breast:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
11	POLR2A	chr15:93257684-93258339	HUVEC	blood vessel:	n/a	n/a
12	ZBTB7A	chr15:93257662-93258499	ECC-1	luminal epithelium:	n/a	chr15:93258159-93258166
13	YY1	chr15:93257256-93258298	H1-hESC	embryonic stem cell:	n/a	chr15:93258147-93258161 chr15:93258222-93258230 chr15:93257946-93257955 chr15:93257906-93257920 chr15:93258219-93258241 chr15:93258108-93258119
14	MAX	chr15:93257523-93258503	A549	lung:	n/a	n/a
15	YY1	chr15:93257717-93257934	GM12891	blood:	n/a	chr15:93257906-93257920
16	TCF12	chr15:93257192-93258497	A549	lung:	n/a	chr15:93257767-93257774 chr15:93258112-93258122
17	TCF7L2	chr15:93257532-93258201	HEK293	kidney:	n/a	chr15:93257749-93257763
18	TBP	chr15:93257427-93258338	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr15:93257167-93258509	A549	lung:	n/a	n/a
20	YY1	chr15:93257649-93258302	SK-N-SH_RA	brain:	n/a	chr15:93258147-93258161 chr15:93258222-93258230 chr15:93257946-93257955 chr15:93257906-93257920 chr15:93258219-93258241 chr15:93258108-93258119
21	YY1	chr15:93257294-93258354	H1-hESC	embryonic stem cell:	n/a	chr15:93258147-93258161 chr15:93258222-93258230 chr15:93257946-93257955 chr15:93257906-93257920 chr15:93258219-93258241 chr15:93258108-93258119
22	TAF1	chr15:93257662-93258222	A549	lung:	n/a	n/a
23	MAX	chr15:93257225-93258462	MCF-7	breast:	n/a	n/a
24	POLR2A	chr15:93257262-93258402	H1-neurons	neurons:	n/a	n/a
25	YY1	chr15:93257677-93258304	SK-N-SH_RA	brain:	n/a	chr15:93258147-93258161 chr15:93258222-93258230 chr15:93257946-93257955 chr15:93257906-93257920 chr15:93258219-93258241 chr15:93258108-93258119
26	SIN3AK20	chr15:93257019-93258579	MCF-7	breast:	n/a	n/a
27	CTCF	chr15:93257136-93258719	A549	lung:	n/a	chr15:93257849-93257862 chr15:93258213-93258234 chr15:93257847-93257865 chr15:93257853-93257862 chr15:93258219-93258235 chr15:93258218-93258236
28	TCF7L2	chr15:93257368-93258229	PANC-1	pancreas:	n/a	chr15:93257749-93257763
29	RAD21	chr15:93257521-93258430	GM12878	blood:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
30	E2F6	chr15:93257322-93258288	H1-hESC	embryonic stem cell:	n/a	chr15:93257842-93257854 chr15:93258165-93258172 chr15:93258160-93258175 chr15:93258112-93258122 chr15:93258211-93258226
31	RAD21	chr15:93257738-93258563	A549	lung:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
32	BCL3	chr15:93257344-93258268	A549	lung:	n/a	chr15:93258103-93258116 chr15:93257948-93257957
33	RUNX3	chr15:93257570-93258333	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:93257556-93258380	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr15:93257228-93258653	SK-N-SH	brain:	n/a	chr15:93257849-93257862 chr15:93258213-93258234 chr15:93257847-93257865 chr15:93257853-93257862 chr15:93258219-93258235 chr15:93258218-93258236
36	CTCF	chr15:93257740-93257890	HEK293	kidney:	n/a	chr15:93257849-93257862 chr15:93257847-93257865 chr15:93257853-93257862
37	CTCF	chr15:93257740-93257890	NHEK	skin:	n/a	chr15:93257849-93257862 chr15:93257847-93257865 chr15:93257853-93257862
38	RAD21	chr15:93257391-93258408	H1-hESC	embryonic stem cell:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
39	RAD21	chr15:93257639-93258457	H1-hESC	embryonic stem cell:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
40	CTCF	chr15:93257660-93257810	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr15:93257600-93257750	GM12873	blood:	n/a	n/a
42	YY1	chr15:93257656-93258350	A549	lung:	n/a	chr15:93258147-93258161 chr15:93258222-93258230 chr15:93257946-93257955 chr15:93257906-93257920 chr15:93258219-93258241 chr15:93258108-93258119
43	RAD21	chr15:93257690-93258427	SK-N-SH_RA	brain:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
44	CTCF	chr15:93257600-93257830	A549	lung:	n/a	n/a
45	RAD21	chr15:93257145-93258576	SK-N-SH	brain:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
46	POLR2A	chr15:93257724-93258408	H1-neurons	neurons:	n/a	n/a
47	PAX5	chr15:93257740-93258234	GM12892	blood:	n/a	chr15:93257807-93257816
48	CTCF	chr15:93257640-93257790	BE2_C	brain:	n/a	n/a
49	RAD21	chr15:93257727-93258671	IMR90	lung:	n/a	chr15:93258216-93258235 chr15:93258222-93258231 chr15:93257982-93257996 chr15:93257849-93257863
50	SIN3A	chr15:93257459-93258367	H1-hESC	embryonic stem cell:	n/a	chr15:93258116-93258127 chr15:93258106-93258119

No.	Distal block	Cell Line	Cell type
1	chr15:93155302..93156114-chr15:93257721..93258317,3	MCF-7	breast:
2	chr15:93250790..93254703-chr15:93255991..93258300,4	MCF-7	breast:
3	chr15:93064524..93065412-chr15:93257719..93258254,3	K562	blood:
4	chr15:93237881..93239746-chr15:93257502..93259973,2	MCF-7	breast:
5	chr15:93191617..93195403-chr15:93257490..93261490,4	MCF-7	breast:
6	chr15:92640503..92641006-chr15:93257734..93258635,2	K562	blood:
7	chr15:93195935..93200377-chr15:93256556..93260471,5	MCF-7	breast:
8	chr15:93226419..93227336-chr15:93257734..93258779,3	MCF-7	breast:
9	chr15:93252649..93254753-chr15:93257319..93260184,2	MCF-7	breast:
10	chr15:93155538..93157198-chr15:93256729..93258273,2	MCF-7	breast:
11	chr15:93187273..93189424-chr15:93256884..93259260,2	MCF-7	breast:
12	chr15:93236752..93237933-chr15:93257714..93258936,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240484	TF binding region
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1004309	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11854403	0.88[EUR][1000 genomes]
rs11854426	0.88[EUR][1000 genomes]
rs12439654	0.92[ASN][1000 genomes]
rs12440201	0.91[ASN][1000 genomes]
rs12440617	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442362	0.91[ASN][1000 genomes]
rs12442555	0.92[ASN][1000 genomes]
rs12899027	0.88[EUR][1000 genomes]
rs12906973	0.98[ASN][1000 genomes]
rs1545143	0.88[EUR][1000 genomes]
rs1561304	0.95[ASN][1000 genomes]
rs17648050	0.93[ASN][1000 genomes]
rs1808818	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1971808	0.84[EUR][1000 genomes]
rs2018744	0.85[EUR][1000 genomes]
rs2278519	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278520	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278521	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2387911	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2387913	0.84[EUR][1000 genomes]
rs2387914	0.83[EUR][1000 genomes]
rs2387915	0.90[EUR][1000 genomes]
rs34888918	0.87[EUR][1000 genomes]
rs34981968	0.88[EUR][1000 genomes]
rs35095971	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35244027	0.88[EUR][1000 genomes]
rs35257450	0.80[EUR][1000 genomes]
rs35663415	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35770033	0.88[EUR][1000 genomes]
rs35982819	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4777731	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777734	0.90[EUR][1000 genomes]
rs4778033	0.99[ASN][1000 genomes]
rs4778034	0.88[EUR][1000 genomes]
rs57030748	0.85[EUR][1000 genomes]
rs58407306	0.87[EUR][1000 genomes]
rs58894958	0.97[ASN][1000 genomes]
rs60471977	0.90[EUR][1000 genomes]
rs6496972	0.85[EUR][1000 genomes]
rs6496973	0.90[EUR][1000 genomes]
rs6496974	0.90[EUR][1000 genomes]
rs6496975	0.90[EUR][1000 genomes]
rs6496976	0.90[EUR][1000 genomes]
rs6496977	0.88[EUR][1000 genomes]
rs6496978	0.89[EUR][1000 genomes]
rs6496979	0.88[EUR][1000 genomes]
rs6496982	0.88[EUR][1000 genomes]
rs6496985	0.86[EUR][1000 genomes]
rs66824972	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66899661	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67971141	0.88[EUR][1000 genomes]
rs71462507	0.88[EUR][1000 genomes]
rs7162983	0.80[EUR][1000 genomes]
rs7165223	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7166307	0.88[EUR][1000 genomes]
rs7169452	0.88[EUR][1000 genomes]
rs7170733	0.90[EUR][1000 genomes]
rs7174515	0.88[EUR][1000 genomes]
rs7176732	0.87[EUR][1000 genomes]
rs7176911	0.87[EUR][1000 genomes]
rs7176935	0.88[EUR][1000 genomes]
rs7177028	0.88[EUR][1000 genomes]
rs7183236	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025793	0.89[EUR][1000 genomes]
rs8028966	0.88[EUR][1000 genomes]
rs8029984	0.90[EUR][1000 genomes]
rs8032004	0.90[EUR][1000 genomes]
rs8033632	0.88[EUR][1000 genomes]
rs8033698	0.85[EUR][1000 genomes]
rs8039425	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8039858	0.90[EUR][1000 genomes]
rs8041556	0.88[EUR][1000 genomes]
rs8042909	0.88[EUR][1000 genomes]
rs9806135	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv974620	chr15:93252874-93258773	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93256600-93258400	Active TSS	Ovary	ovary
2	chr15:93257000-93258200	Active TSS	Fetal Lung	lung
3	chr15:93257200-93257800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:93257200-93257800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:93257200-93257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:93257200-93257800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:93257200-93257800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:93257200-93257800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr15:93257200-93257800	Flanking Active TSS	HUVEC	blood vessel
10	chr15:93257200-93258000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr15:93257200-93258200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:93257200-93258200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:93257200-93258200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:93257200-93258200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:93257200-93258200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:93257200-93258200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:93257200-93258200	Active TSS	Brain Anterior Caudate	brain
18	chr15:93257200-93258200	Active TSS	Brain Cingulate Gyrus	brain
19	chr15:93257200-93258200	Active TSS	Rectal Smooth Muscle	rectum
20	chr15:93257200-93258200	Active TSS	HSMM	muscle
21	chr15:93257200-93258400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr15:93257200-93258400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:93257200-93258400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:93257200-93258400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:93257200-93258400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:93257200-93258400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:93257200-93258400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:93257200-93258400	Active TSS	Brain Hippocampus Middle	brain
29	chr15:93257200-93258400	Active TSS	Fetal Brain Female	brain
30	chr15:93257200-93258400	Active TSS	A549	lung
31	chr15:93257200-93258400	Active TSS	HSMMtube	muscle
32	chr15:93257200-93258400	Active TSS	NHDF-Ad	bronchial
33	chr15:93257200-93258400	Active TSS	NHLF	lung
34	chr15:93257400-93257800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:93257400-93257800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr15:93257400-93257800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr15:93257400-93257800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:93257400-93257800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr15:93257400-93257800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr15:93257400-93257800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:93257400-93257800	Active TSS	Fetal Heart	heart
42	chr15:93257400-93257800	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr15:93257400-93257800	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr15:93257400-93258000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:93257400-93258000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr15:93257400-93258000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr15:93257400-93258200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr15:93257400-93258200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:93257400-93258200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:93257400-93258200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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