Variant report

Variant	rs7161993
Chromosome Location	chr15:75493527-75493528
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	chr15:75492615-75496148	GM12878	blood:	n/a	chr15:75494140-75494152 chr15:75495499-75495512 chr15:75494019-75494031 chr15:75493189-75493202 chr15:75495186-75495195 chr15:75495209-75495220 chr15:75494372-75494384 chr15:75493163-75493175 chr15:75493191-75493202 chr15:75495210-75495219
2	POLR2A	chr15:75492953-75496691	GM19193	blood:	n/a	n/a
3	RUNX3	chr15:75492986-75496547	GM12878	blood:	n/a	n/a
4	TEAD4	chr15:75492986-75494085	K562	blood:	n/a	n/a
5	MXI1	chr15:75493372-75495445	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:75492994-75495447	Hela-S3	cervix:	n/a	n/a
7	TCF7L2	chr15:75493199-75494104	Hela-S3	cervix:	n/a	n/a
8	BCL3	chr15:75493411-75494857	A549	lung:	n/a	chr15:75494450-75494463 chr15:75494235-75494244 chr15:75494227-75494240 chr15:75494062-75494070 chr15:75494367-75494380 chr15:75494109-75494122 chr15:75494799-75494812 chr15:75494230-75494243 chr15:75494063-75494076 chr15:75494540-75494553 chr15:75494372-75494381
9	MYC	chr15:75493447-75495480	NB4	blood:	n/a	chr15:75494093-75494102
10	POLR2A	chr15:75492412-75497603	GM18505	blood:	n/a	n/a
11	EGR1	chr15:75492798-75493561	HCT-116	colon:	n/a	chr15:75493165-75493175 chr15:75493190-75493199 chr15:75493252-75493276 chr15:75493165-75493178 chr15:75493164-75493179 chr15:75493162-75493176 chr15:75493164-75493178 chr15:75493165-75493178 chr15:75493165-75493178 chr15:75493166-75493176 chr15:75493160-75493182 chr15:75493165-75493178 chr15:75493166-75493175
12	POLR2A	chr15:75492653-75493781	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:75493470-75494149	GM12891	blood:	n/a	n/a
14	RCOR1	chr15:75492800-75495327	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:75493447-75495768	HL-60	blood:	n/a	n/a
16	POLR2A	chr15:75490327-75497524	GM12891	blood:	n/a	n/a
17	CHD2	chr15:75493065-75493591	Hela-S3	cervix:	n/a	chr15:75493160-75493170
18	CEBPB	chr15:75493470-75493589	A549	lung:	n/a	n/a
19	TFAP2C	chr15:75492839-75495794	Hela-S3	cervix:	n/a	chr15:75494924-75494939
20	EP300	chr15:75492823-75495560	ECC-1	luminal epithelium:	n/a	chr15:75493187-75493201 chr15:75494420-75494429 chr15:75494529-75494545 chr15:75495184-75495193 chr15:75494447-75494456 chr15:75494478-75494494 chr15:75495183-75495192 chr15:75492831-75492840 chr15:75494803-75494812 chr15:75493191-75493200 chr15:75494063-75494079 chr15:75494226-75494242
21	SMARCC1	chr15:75492612-75494097	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:75493101-75493759	ECC-1	luminal epithelium:	n/a	n/a
23	STAT5A	chr15:75492643-75496896	GM12878	blood:	n/a	chr15:75496563-75496577 chr15:75496565-75496574 chr15:75495565-75495576 chr15:75493377-75493389 chr15:75496566-75496575 chr15:75493549-75493557 chr15:75496045-75496057 chr15:75493256-75493270
24	MXI1	chr15:75493278-75495807	GM12878	blood:	n/a	chr15:75493370-75493379
25	POU2F2	chr15:75493073-75495954	GM12878	blood:	n/a	chr15:75493166-75493178 chr15:75495907-75495919
26	TCF12	chr15:75493008-75496156	A549	lung:	n/a	chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
27	POLR2A	chr15:75493371-75495560	PBDE	blood:	n/a	n/a
28	CTCF	chr15:75493174-75496126	A549	lung:	n/a	chr15:75495837-75495855 chr15:75495839-75495852 chr15:75495188-75495201
29	MYC	chr15:75493479-75493599	HepG2	liver:	n/a	n/a
30	POLR2A	chr15:75493073-75496869	Hela-S3	cervix:	n/a	n/a
31	TCF12	chr15:75492891-75495553	ECC-1	luminal epithelium:	n/a	chr15:75492906-75492916 chr15:75493235-75493245 chr15:75493370-75493380 chr15:75493548-75493556
32	POLR2A	chr15:75492753-75495273	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr15:75493502-75495491	ECC-1	luminal epithelium:	n/a	chr15:75494093-75494102
34	SMC3	chr15:75492813-75495936	Hela-S3	cervix:	n/a	chr15:75494800-75494810
35	POLR2A	chr15:75492560-75493801	GM12878	blood:	n/a	n/a
36	ZEB1	chr15:75492954-75494012	GM12878	blood:	n/a	chr15:75493396-75493407 chr15:75493396-75493407
37	MYC	chr15:75492916-75495370	Hela-S3	cervix:	n/a	chr15:75494093-75494102
38	MAX	chr15:75492971-75495582	HepG2	liver:	n/a	chr15:75494093-75494102
39	MAZ	chr15:75492986-75495484	Hela-S3	cervix:	n/a	chr15:75494093-75494102
40	HA-E2F1	chr15:75493444-75495353	Hela-S3	cervix:	n/a	chr15:75494554-75494564 chr15:75494372-75494382 chr15:75495234-75495244 chr15:75494420-75494429
41	RAD21	chr15:75492931-75495328	Hela-S3	cervix:	n/a	chr15:75494800-75494810 chr15:75494117-75494130 chr15:75494777-75494789 chr15:75494541-75494555 chr15:75493268-75493282
42	TAF1	chr15:75493138-75493621	Hela-S3	cervix:	n/a	n/a
43	MYC	chr15:75493140-75493632	MCF10A-Er-Src	breast:	n/a	n/a
44	NFATC1	chr15:75493392-75493932	GM12878	blood:	n/a	n/a
45	POLR2A	chr15:75493008-75495954	HL-60	blood:	n/a	n/a
46	MAX	chr15:75493387-75495776	NB4	blood:	n/a	chr15:75494093-75494102
47	POLR2A	chr15:75492945-75496396	GM12892	blood:	n/a	n/a
48	EGR1	chr15:75492720-75493784	HCT-116	colon:	n/a	chr15:75493165-75493175 chr15:75493190-75493199 chr15:75493252-75493276 chr15:75493165-75493178 chr15:75493164-75493179 chr15:75493162-75493176 chr15:75493164-75493178 chr15:75493165-75493178 chr15:75493165-75493178 chr15:75493166-75493176 chr15:75493160-75493182 chr15:75493165-75493178 chr15:75493166-75493175
49	STAT3	chr15:75492970-75493575	MCF10A-Er-Src	breast:	n/a	chr15:75493377-75493389 chr15:75493549-75493557 chr15:75493256-75493270
50	POLR2A	chr15:75493128-75495869	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
2	chr15:75470196..75472288-chr15:75492167..75494098,2	K562	blood:
3	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
4	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
5	chr15:75334055..75342899-chr15:75492444..75498798,20	K562	blood:
6	chr15:75333855..75341122-chr15:75492635..75495814,9	MCF-7	breast:
7	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
8	chr15:75405088..75407275-chr15:75491436..75494556,3	MCF-7	breast:
9	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:
10	chr15:75493511..75494496-chr5:108084246..108084833,2	Hela-S3	cervix:
11	chr15:75307941..75311039-chr15:75492807..75495397,4	MCF-7	breast:
12	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
13	chr15:75486189..75488237-chr15:75491823..75494086,2	MCF-7	breast:
14	chr15:75492389..75494597-chr8:145752169..145754298,2	MCF-7	breast:
15	chr15:75321350..75322254-chr15:75493363..75493944,2	MCF-7	breast:
16	chr15:74906571..74908107-chr15:75493036..75494786,2	MCF-7	breast:
17	chr15:75488848..75492298-chr15:75492406..75495739,4	MCF-7	breast:
18	chr15:75477700..75479387-chr15:75492353..75494507,2	MCF-7	breast:
19	chr15:75332512..75342228-chr15:75491817..75496419,22	MCF-7	breast:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000260483	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000213563	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000260152	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000240366	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10851876	1.00[EUR][1000 genomes]
rs12904608	1.00[AMR][1000 genomes]
rs28585063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4558383	1.00[AMR][1000 genomes]
rs6495145	1.00[EUR][1000 genomes]
rs7161754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443236	1.00[EUR][1000 genomes]
rs8037391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9673029	1.00[AMR][1000 genomes];1.00[EUR][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	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3422174	chr15:75492924-75495772	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75491200-75493600	Enhancers	Lung	lung
2	chr15:75491200-75494000	Flanking Active TSS	GM12878-XiMat	blood
3	chr15:75491200-75494000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:75492000-75493600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:75492200-75493600	Enhancers	Left Ventricle	heart
6	chr15:75492200-75494000	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr15:75492400-75493600	Enhancers	Right Atrium	heart
8	chr15:75492400-75494000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:75492400-75494000	Flanking Active TSS	Hela-S3	cervix
10	chr15:75492600-75493600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:75492600-75493600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:75492600-75493600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:75492600-75493800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:75492600-75493800	Bivalent Enhancer	Fetal Brain Male	brain
15	chr15:75492600-75494000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr15:75492600-75494000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:75492600-75494000	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr15:75492600-75494000	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr15:75492600-75494000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr15:75492600-75494200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr15:75492600-75494200	Flanking Active TSS	NHEK	skin
22	chr15:75492800-75493800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr15:75492800-75494000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:75492800-75494000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr15:75492800-75494000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:75492800-75494000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:75492800-75494000	Flanking Active TSS	Placenta	Placenta
28	chr15:75492800-75494000	Flanking Active TSS	HMEC	breast
29	chr15:75492800-75495800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr15:75492800-75495800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr15:75492800-75496800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:75493000-75493600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:75493000-75493600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:75493000-75493800	Flanking Active TSS	Gastric	stomach
35	chr15:75493000-75494000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr15:75493000-75494000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr15:75493000-75494000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:75493000-75494000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:75493200-75493600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
40	chr15:75493200-75493600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:75493200-75493600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr15:75493200-75493600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:75493200-75493600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr15:75493200-75493600	Enhancers	Liver	Liver
45	chr15:75493200-75493600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:75493200-75493600	Enhancers	Fetal Lung	lung
47	chr15:75493200-75493600	Enhancers	Small Intestine	intestine
48	chr15:75493200-75493600	Enhancers	HUVEC	blood vessel
49	chr15:75493200-75493600	Bivalent Enhancer	NH-A	brain
50	chr15:75493200-75493600	Enhancers	NHLF	lung

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