Variant report

Variant	rs13227930
Chromosome Location	chr7:12726508-12726509
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	ELF1	chr7:12725966-12726620	K562	blood:	n/a	chr7:12726271-12726283
2	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
3	RAD21	chr7:12726264-12726595	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr7:12726217-12726638	T-47D	breast:	n/a	n/a
5	MXI1	chr7:12725862-12727649	K562	blood:	n/a	n/a
6	REST	chr7:12726003-12727706	H1-neurons	neurons:	n/a	chr7:12726503-12726516 chr7:12727261-12727274 chr7:12726496-12726506 chr7:12726922-12726935 chr7:12726506-12726519
7	E2F6	chr7:12726014-12726621	K562	blood:	n/a	chr7:12726439-12726448 chr7:12726538-12726548
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	IRF1	chr7:12726035-12727546	K562	blood:	n/a	chr7:12727208-12727222
11	RAD21	chr7:12726361-12726518	K562	blood:	n/a	n/a
12	RUNX3	chr7:12725966-12726592	GM12878	blood:	n/a	n/a
13	ZNF143	chr7:12726072-12727480	Hela-S3	cervix:	n/a	chr7:12726573-12726591 chr7:12727096-12727114 chr7:12726538-12726548
14	JUND	chr7:12725954-12727565	K562	blood:	n/a	chr7:12727172-12727181
15	POLR2A	chr7:12725962-12727578	HL-60	blood:	n/a	n/a
16	MXI1	chr7:12726011-12727596	HepG2	liver:	n/a	n/a
17	CTCF	chr7:12726292-12726648	MCF-7	breast:	n/a	n/a
18	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
19	TCF7L2	chr7:12725915-12727382	HCT-116	colon:	n/a	n/a
20	TCF12	chr7:12726303-12726553	H1-hESC	embryonic stem cell:	n/a	n/a
21	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
22	CTCF	chr7:12726360-12726510	HFF-Myc	foreskin:	n/a	n/a
23	TAF1	chr7:12726309-12726739	Hela-S3	cervix:	n/a	n/a
24	EP300	chr7:12726089-12726512	SK-N-SH_RA	brain:	n/a	chr7:12726430-12726446 chr7:12726350-12726357
25	TAF1	chr7:12726120-12727528	ECC-1	luminal epithelium:	n/a	n/a
26	MAZ	chr7:12726020-12727470	Hela-S3	cervix:	n/a	chr7:12726219-12726238 chr7:12726224-12726233 chr7:12726571-12726580 chr7:12726222-12726235
27	RCOR1	chr7:12725996-12727694	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr7:12726256-12726641	Kidney_OC	kidney:	n/a	n/a
29	MXI1	chr7:12726309-12726585	GM12878	blood:	n/a	n/a
30	SRF	chr7:12725895-12727435	MCF-7	breast:	n/a	chr7:12726938-12726948
31	HEY1	chr7:12725908-12727757	K562	blood:	n/a	chr7:12726536-12726551
32	CTCF	chr7:12726380-12726530	HMEC	breast:	n/a	n/a
33	ZMIZ1	chr7:12725914-12727607	K562	blood:	n/a	n/a
34	SIN3AK20	chr7:12726342-12726543	PFSK-1	brain:	n/a	n/a
35	EGR1	chr7:12726328-12726908	K562	blood:	n/a	chr7:12726570-12726579 chr7:12726568-12726582 chr7:12726570-12726580 chr7:12726570-12726581 chr7:12726566-12726580 chr7:12726569-12726582 chr7:12726564-12726586
36	USF1	chr7:12725783-12726630	HCT-116	colon:	n/a	chr7:12726298-12726314 chr7:12726431-12726447
37	CTCF	chr7:12726360-12726510	HRE	kidney:	n/a	n/a
38	TEAD4	chr7:12725987-12726667	ECC-1	luminal epithelium:	n/a	n/a
39	ELF1	chr7:12726044-12726647	K562	blood:	n/a	chr7:12726271-12726283
40	CTCF	chr7:12726380-12726530	GM12875	blood:	n/a	n/a
41	YY1	chr7:12725966-12726588	ECC-1	luminal epithelium:	n/a	n/a
42	E2F6	chr7:12725933-12727386	K562	blood:	n/a	chr7:12727136-12727148 chr7:12726439-12726448 chr7:12726538-12726548
43	ELF1	chr7:12726099-12726615	GM12878	blood:	n/a	chr7:12726271-12726283
44	POLR2A	chr7:12725879-12727605	PANC-1	pancreas:	n/a	n/a
45	CTCF	chr7:12726107-12727562	K562	blood:	n/a	n/a
46	CHD2	chr7:12725983-12727358	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr7:12726380-12726530	GM12878	blood:	n/a	n/a
48	SETDB1	chr7:12725957-12727344	K562	blood:	n/a	n/a
49	CREB1	chr7:12725924-12727416	H1-hESC	embryonic stem cell:	n/a	chr7:12726151-12726164
50	CTCF	chr7:12726285-12726631	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:12441879..12443410-chr7:12725306..12727318,2	K562	blood:
2	chr1:62190648..62191243-chr7:12726306..12727076,2	Hela-S3	cervix:
3	chr4:184365749..184366305-chr7:12726082..12726603,2	Hela-S3	cervix:
4	chr13:111365154..111366077-chr7:12726484..12727141,2	Hela-S3	cervix:
5	chr1:32538397..32538972-chr7:12726004..12726567,2	Hela-S3	cervix:
6	chr7:12726248..12727150-chr7:39662597..39663297,2	Hela-S3	cervix:
7	chr19:8385986..8386734-chr7:12726480..12727340,2	NB4	blood:
8	chr7:12726497..12727418-chr8:33370737..33371619,2	Hela-S3	cervix:

Variant related genes	Relation type
ARL4A	TF binding region
ENSG00000233927	Chromatin interaction
ENSG00000121775	Chromatin interaction
ENSG00000168564	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000239039	Chromatin interaction
ENSG00000129696	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000167774	Chromatin interaction
ENSG00000146530	Chromatin interaction
ENSG00000162604	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000267855	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13224178	1.00[AFR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes]
rs13227823	0.95[EUR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13242483	1.00[AFR][1000 genomes]
rs17616248	1.00[AFR][1000 genomes]
rs17616514	1.00[AFR][1000 genomes]
rs34452532	1.00[AFR][1000 genomes]
rs34539754	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes]
rs35908302	1.00[AFR][1000 genomes]
rs56246037	1.00[AFR][1000 genomes]
rs66620565	1.00[AFR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes]
rs73053466	1.00[AFR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes]
rs73055427	1.00[AFR][1000 genomes]
rs73055444	1.00[AFR][1000 genomes]
rs73055447	1.00[AFR][1000 genomes]
rs73055475	1.00[AFR][1000 genomes]
rs73055491	1.00[AFR][1000 genomes]
rs892714	1.00[AFR][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	chr7:12725400-12726600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr7:12725400-12727600	Active TSS	Brain Hippocampus Middle	brain
5	chr7:12725400-12727800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:12725400-12728000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:12725400-12728000	Active TSS	NHDF-Ad	bronchial
8	chr7:12725400-12728200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:12725400-12728800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:12725400-12729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:12725400-12729000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr7:12725400-12729000	Active TSS	Left Ventricle	heart
13	chr7:12725400-12729800	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:12725400-12730400	Active TSS	Brain Angular Gyrus	brain
15	chr7:12725400-12730400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:12725400-12730400	Active TSS	Fetal Kidney	kidney
17	chr7:12725400-12730600	Active TSS	Brain Anterior Caudate	brain
18	chr7:12725600-12730800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr7:12725800-12726600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:12725800-12726800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr7:12725800-12727200	Active TSS	Primary T cells from cord blood	blood
22	chr7:12725800-12727200	Active TSS	Liver	Liver
23	chr7:12725800-12727400	Active TSS	NHLF	lung
24	chr7:12725800-12727600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:12725800-12727800	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:12725800-12728000	Active TSS	Brain Germinal Matrix	brain
27	chr7:12725800-12728000	Active TSS	Colon Smooth Muscle	Colon
28	chr7:12725800-12728800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr7:12725800-12730200	Active TSS	Fetal Stomach	stomach
30	chr7:12725800-12730400	Active TSS	Fetal Intestine Small	intestine
31	chr7:12725800-12730400	Active TSS	Right Atrium	heart
32	chr7:12725800-12730600	Active TSS	Right Ventricle	heart
33	chr7:12726000-12726600	Active TSS	Colonic Mucosa	Colon
34	chr7:12726000-12727000	Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr7:12726000-12727200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:12726000-12727400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:12726000-12727400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:12726000-12727600	Active TSS	Aorta	Aorta
39	chr7:12726000-12727600	Active TSS	Lung	lung
40	chr7:12726000-12727600	Active TSS	Spleen	Spleen
41	chr7:12726000-12727800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:12726000-12727800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:12726000-12727800	Active TSS	Ovary	ovary
44	chr7:12726000-12727800	Active TSS	Placenta Amnion	Placenta Amnion
45	chr7:12726000-12728000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:12726000-12728000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:12726000-12728000	Active TSS	Gastric	stomach
48	chr7:12726000-12728000	Active TSS	Pancreas	Pancrea
49	chr7:12726000-12728000	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr7:12726000-12728000	Active TSS	Stomach Mucosa	stomach

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