Variant report

Variant	rs73678525
Chromosome Location	chr7:12727247-12727248
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	MYBL2	chr7:12726652-12727642	HepG2	liver:	n/a	n/a
2	ELF1	chr7:12726678-12727454	K562	blood:	n/a	chr7:12727134-12727146
3	MAX	chr7:12725843-12727519	ECC-1	luminal epithelium:	n/a	chr7:12726222-12726232 chr7:12726219-12726238 chr7:12726224-12726233 chr7:12726571-12726580 chr7:12726222-12726235
4	IRF1	chr7:12726910-12727746	K562	blood:	n/a	chr7:12727208-12727222
5	RAD21	chr7:12726841-12727641	HepG2	liver:	n/a	n/a
6	MXI1	chr7:12725862-12727649	K562	blood:	n/a	n/a
7	REST	chr7:12726003-12727706	H1-neurons	neurons:	n/a	chr7:12726503-12726516 chr7:12727261-12727274 chr7:12726496-12726506 chr7:12726922-12726935 chr7:12726506-12726519
8	POLR2A	chr7:12725933-12727758	Hela-S3	cervix:	n/a	n/a
9	TCF12	chr7:12725733-12727571	ECC-1	luminal epithelium:	n/a	chr7:12726232-12726242
10	HDAC2	chr7:12727120-12727587	K562	blood:	n/a	n/a
11	IRF1	chr7:12726035-12727546	K562	blood:	n/a	chr7:12727208-12727222
12	ZNF143	chr7:12726072-12727480	Hela-S3	cervix:	n/a	chr7:12726573-12726591 chr7:12727096-12727114 chr7:12726538-12726548
13	JUND	chr7:12725954-12727565	K562	blood:	n/a	chr7:12727172-12727181
14	SIN3AK20	chr7:12726794-12727430	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:12725962-12727578	HL-60	blood:	n/a	n/a
16	CTCF	chr7:12726782-12727426	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOS	chr7:12726970-12727329	MCF10A-Er-Src	breast:	n/a	chr7:12727172-12727181
18	MXI1	chr7:12726011-12727596	HepG2	liver:	n/a	n/a
19	EP300	chr7:12726093-12727519	HepG2	liver:	n/a	chr7:12726539-12726548 chr7:12727088-12727104 chr7:12726934-12726950 chr7:12726888-12726897 chr7:12726539-12726555 chr7:12726430-12726446 chr7:12726350-12726357
20	TCF7L2	chr7:12725915-12727382	HCT-116	colon:	n/a	n/a
21	POLR2A	chr7:12726600-12727940	K562	blood:	n/a	n/a
22	MAX	chr7:12725945-12727519	SK-N-SH	brain:	n/a	chr7:12726222-12726232 chr7:12726219-12726238 chr7:12726224-12726233 chr7:12726571-12726580 chr7:12726222-12726235
23	GATA2	chr7:12727163-12727631	K562	blood:	n/a	n/a
24	TAF1	chr7:12726120-12727528	ECC-1	luminal epithelium:	n/a	n/a
25	MAZ	chr7:12726020-12727470	Hela-S3	cervix:	n/a	chr7:12726219-12726238 chr7:12726224-12726233 chr7:12726571-12726580 chr7:12726222-12726235
26	RCOR1	chr7:12725996-12727694	Hela-S3	cervix:	n/a	n/a
27	SRF	chr7:12725895-12727435	MCF-7	breast:	n/a	chr7:12726938-12726948
28	REST	chr7:12727126-12727384	SK-N-SH	brain:	n/a	chr7:12727261-12727274
29	RFX5	chr7:12727148-12727466	K562	blood:	n/a	n/a
30	HEY1	chr7:12725908-12727757	K562	blood:	n/a	chr7:12726536-12726551
31	HNF4G	chr7:12726983-12727396	HepG2	liver:	n/a	chr7:12727229-12727237
32	ZMIZ1	chr7:12725914-12727607	K562	blood:	n/a	n/a
33	RAD21	chr7:12726719-12727482	MCF-7	breast:	n/a	n/a
34	E2F6	chr7:12725933-12727386	K562	blood:	n/a	chr7:12727136-12727148 chr7:12726439-12726448 chr7:12726538-12726548
35	POLR2A	chr7:12725879-12727605	PANC-1	pancreas:	n/a	n/a
36	CTCF	chr7:12726107-12727562	K562	blood:	n/a	n/a
37	CHD2	chr7:12725983-12727358	H1-hESC	embryonic stem cell:	n/a	n/a
38	USF1	chr7:12726872-12727520	A549	lung:	n/a	n/a
39	EP300	chr7:12726693-12727420	T-47D	breast:	n/a	chr7:12727088-12727104 chr7:12726934-12726950 chr7:12726888-12726897
40	SP4	chr7:12726745-12727440	H1-hESC	embryonic stem cell:	n/a	chr7:12727135-12727146 chr7:12727204-12727220 chr7:12727206-12727222
41	SETDB1	chr7:12725957-12727344	K562	blood:	n/a	n/a
42	TAF1	chr7:12726741-12727669	ECC-1	luminal epithelium:	n/a	n/a
43	PBX3	chr7:12726743-12727399	A549	lung:	n/a	chr7:12727106-12727126
44	REST	chr7:12726789-12727535	A549	lung:	n/a	chr7:12727261-12727274 chr7:12726922-12726935
45	CREB1	chr7:12725924-12727416	H1-hESC	embryonic stem cell:	n/a	chr7:12726151-12726164
46	BHLHE40	chr7:12725911-12727766	K562	blood:	n/a	chr7:12726298-12726314 chr7:12726431-12726447
47	REST	chr7:12726999-12727343	K562	blood:	n/a	chr7:12727261-12727274
48	IRF3	chr7:12727076-12727349	HepG2	liver:	n/a	chr7:12727208-12727222
49	CTCF	chr7:12727140-12727290	NHDF-neo	bronchial:	n/a	n/a
50	MAFF	chr7:12727156-12727664	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:12727243-12727293	HL-60	blood:	n/a
2	chr7:12727247-12727297	K562	blood:	n/a
3	chr7:12727220-12727270	ECC-1	luminal epithelium:	n/a
4	chr7:12727247-12727297	HRPEpiC	eye:	n/a
5	chr7:12727220-12727270	HCM	heart:	n/a
6	chr7:12727247-12727297	HL-60	blood:	n/a
7	chr7:12727220-12727270	GM12891	blood:	n/a
8	chr7:12727243-12727293	NHDF-neo	bronchial:	n/a
9	chr7:12727243-12727293	ProgFib	skin:	n/a
10	chr7:12727220-12727270	GM06990	blood:	n/a
11	chr7:12727243-12727293	HRPEpiC	eye:	n/a
12	chr7:12727220-12727270	MCF10A-Er-Src	breast:	n/a
13	chr7:12727220-12727270	NHDF-neo	bronchial:	n/a
14	chr7:12727243-12727293	MCF10A-Er-Src	breast:	n/a
15	chr7:12727243-12727293	AG04450	lung:	fetal
16	chr7:12727247-12727297	Hela-S3	cervix:	n/a
17	chr7:12727247-12727297	AG09319	gingival:	n/a
18	chr7:12727247-12727297	MCF-7	breast:	n/a
19	chr7:12727220-12727270	GM12878	blood:	n/a
20	chr7:12727247-12727297	HCF	heart:	n/a
21	chr7:12727247-12727297	BJ	skin:	n/a
22	chr7:12727243-12727293	HRE	kidney:	n/a
23	chr7:12727247-12727297	GM12891	blood:	n/a
24	chr7:12727220-12727270	HEEpiC	esophagus:	n/a
25	chr7:12727220-12727270	HCT-116	colon:	n/a
26	chr7:12727243-12727293	GM12892	blood:	n/a
27	chr7:12727243-12727293	HepG2	liver:	n/a
28	chr7:12727220-12727270	SK-N-MC	brain:	n/a
29	chr7:12727220-12727270	GM12892	blood:	n/a
30	chr7:12727243-12727293	PrEC	prostate:	n/a
31	chr7:12727220-12727270	NB4	blood:	n/a
32	chr7:12727220-12727270	Hela-S3	cervix:	n/a
33	chr7:12727220-12727270	HRPEpiC	eye:	n/a
34	chr7:12727247-12727297	LNCaP	prostate:	n/a
35	chr7:12727247-12727297	T-47D	breast:	n/a
36	chr7:12727243-12727293	HMEC	breast:	n/a
37	chr7:12727247-12727297	HUVEC	blood vessel:	n/a
38	chr7:12727220-12727270	HNPCEpiC	eye:	n/a
39	chr7:12727220-12727270	U87	brain:	n/a
40	chr7:12727243-12727293	GM12891	blood:	n/a
41	chr7:12727220-12727270	GM19239	blood:	n/a
42	chr7:12727220-12727270	AG10803	skin:	n/a
43	chr7:12727243-12727293	HNPCEpiC	eye:	n/a
44	chr7:12727220-12727270	PrEC	prostate:	n/a
45	chr7:12727247-12727297	NT2-D1	testis:	n/a
46	chr7:12727243-12727293	AoSMC	blood vessel:	n/a
47	chr7:12727243-12727293	AG09309	skin:	n/a
48	chr7:12727243-12727293	HEK293	kidney:	embryo
49	chr7:12727243-12727293	U87	brain:	n/a
50	chr7:12727247-12727297	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr3:49044397..49045062-chr7:12727150..12727662,2	Hela-S3	cervix:
2	chr7:12441879..12443410-chr7:12725306..12727318,2	K562	blood:
3	chr7:12726724..12727446-chr7:100302966..100303748,2	NB4	blood:
4	chr10:123686912..123687528-chr7:12726521..12727258,2	Hela-S3	cervix:
5	chr12:110905653..110906206-chr7:12726777..12727655,2	Hela-S3	cervix:
6	chr13:28712090..28712727-chr7:12726516..12727387,2	NB4	blood:
7	chr7:12727182..12727729-chr9:131445702..131446218,2	Hela-S3	cervix:
8	chr7:12726564..12728069-chr7:14030537..14032719,2	K562	blood:
9	chr5:53606327..53606932-chr7:12726591..12727288,2	Hela-S3	cervix:
10	chr19:8385986..8386734-chr7:12726480..12727340,2	NB4	blood:
11	chr1:169862420..169863260-chr7:12726780..12727377,2	Hela-S3	cervix:
12	chr7:12726569..12729103-chr7:14030562..14032719,2	K562	blood:
13	chr12:70636454..70637138-chr7:12726998..12727610,2	NB4	blood:
14	chr1:201475785..201476542-chr7:12726733..12727723,2	Hela-S3	cervix:
15	chr2:122288119..122288921-chr7:12726857..12727524,2	Hela-S3	cervix:
16	chr7:12726497..12727418-chr8:33370737..33371619,2	Hela-S3	cervix:

Variant related genes	Relation type
ARL4A	TF binding region
ARL4A	CpG island
ENSG00000111231	Chromatin interaction
ENSG00000257815	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000178252	Chromatin interaction
ENSG00000146530	Chromatin interaction
ENSG00000167774	Chromatin interaction
ENSG00000152520	Chromatin interaction
ENSG00000111596	Chromatin interaction
ENSG00000185305	Chromatin interaction
ENSG00000239039	Chromatin interaction
ENSG00000204856	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000224536	Chromatin interaction
ENSG00000159176	Chromatin interaction
ENSG00000261485	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000107669	Chromatin interaction
ENSG00000000457	Chromatin interaction
ENSG00000006468	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000129696	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73678521	1.00[AMR][1000 genomes]
rs73678522	1.00[AMR][1000 genomes]
rs73678524	0.83[AFR][1000 genomes];1.00[AMR][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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12725200-12727600	Active TSS	Brain Substantia Nigra	brain
2	chr7:12725200-12730600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:12725400-12727600	Active TSS	Brain Hippocampus Middle	brain
4	chr7:12725400-12727800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:12725400-12728000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:12725400-12728000	Active TSS	NHDF-Ad	bronchial
7	chr7:12725400-12728200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:12725400-12728800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:12725400-12729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:12725400-12729000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:12725400-12729000	Active TSS	Left Ventricle	heart
12	chr7:12725400-12729800	Active TSS	Brain Cingulate Gyrus	brain
13	chr7:12725400-12730400	Active TSS	Brain Angular Gyrus	brain
14	chr7:12725400-12730400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:12725400-12730400	Active TSS	Fetal Kidney	kidney
16	chr7:12725400-12730600	Active TSS	Brain Anterior Caudate	brain
17	chr7:12725600-12730800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:12725800-12727400	Active TSS	NHLF	lung
19	chr7:12725800-12727600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:12725800-12727800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr7:12725800-12728000	Active TSS	Brain Germinal Matrix	brain
22	chr7:12725800-12728000	Active TSS	Colon Smooth Muscle	Colon
23	chr7:12725800-12728800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:12725800-12730200	Active TSS	Fetal Stomach	stomach
25	chr7:12725800-12730400	Active TSS	Fetal Intestine Small	intestine
26	chr7:12725800-12730400	Active TSS	Right Atrium	heart
27	chr7:12725800-12730600	Active TSS	Right Ventricle	heart
28	chr7:12726000-12727400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:12726000-12727400	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:12726000-12727600	Active TSS	Aorta	Aorta
31	chr7:12726000-12727600	Active TSS	Lung	lung
32	chr7:12726000-12727600	Active TSS	Spleen	Spleen
33	chr7:12726000-12727800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:12726000-12727800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:12726000-12727800	Active TSS	Ovary	ovary
36	chr7:12726000-12727800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:12726000-12728000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:12726000-12728000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:12726000-12728000	Active TSS	Gastric	stomach
40	chr7:12726000-12728000	Active TSS	Pancreas	Pancrea
41	chr7:12726000-12728000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:12726000-12728000	Active TSS	Stomach Mucosa	stomach
43	chr7:12726000-12728000	Active TSS	Thymus	Thymus
44	chr7:12726000-12728200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:12726000-12728200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:12726000-12728800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr7:12726000-12728800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:12726000-12728800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:12726000-12728800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:12726000-12728800	Active TSS	A549	lung

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