Variant report

Variant	rs112357978
Chromosome Location	chr12:31743382-31743383
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	POLR2A	chr12:31742728-31744436	Gliobla	brain:	n/a	n/a
2	POLR2A	chr12:31742347-31744772	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:31742595-31744836	GM19193	blood:	n/a	n/a
4	ATF1	chr12:31743345-31743636	K562	blood:	n/a	n/a
5	FOS	chr12:31743166-31743432	MCF10A-Er-Src	breast:	n/a	chr12:31743310-31743320 chr12:31743312-31743323 chr12:31743311-31743320 chr12:31743310-31743319 chr12:31743309-31743321
6	CTCF	chr12:31743360-31743510	GM12875	blood:	n/a	n/a
7	POLR2A	chr12:31742731-31744254	ECC-1	luminal epithelium:	n/a	n/a
8	UBTF	chr12:31742865-31744130	K562	blood:	n/a	n/a
9	HEY1	chr12:31743282-31743723	K562	blood:	n/a	chr12:31743607-31743622 chr12:31743295-31743310
10	RCOR1	chr12:31743240-31744121	K562	blood:	n/a	n/a
11	STAT5A	chr12:31742587-31743652	GM12878	blood:	n/a	chr12:31742787-31742799
12	YY1	chr12:31742674-31743481	GM12891	blood:	n/a	chr12:31743295-31743309 chr12:31743082-31743096 chr12:31742789-31742800 chr12:31743076-31743087 chr12:31743243-31743257 chr12:31743166-31743177 chr12:31743435-31743449
13	POLR2A	chr12:31742607-31744526	HepG2	liver:	n/a	n/a
14	CREB1	chr12:31743274-31743810	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBL1XR1	chr12:31742612-31743642	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:31742606-31744703	NB4	blood:	n/a	n/a
17	TAF1	chr12:31743174-31744796	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr12:31742723-31744440	A549	lung:	n/a	n/a
19	POLR2A	chr12:31742804-31744113	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F1	chr12:31742985-31744369	Hela-S3	cervix:	n/a	chr12:31743079-31743089 chr12:31743564-31743573 chr12:31744163-31744172
21	TBP	chr12:31742788-31744007	K562	blood:	n/a	n/a
22	POLR2A	chr12:31742631-31744748	GM19099	blood:	n/a	n/a
23	CTCF	chr12:31743380-31743530	GM12874	blood:	n/a	n/a
24	CTCF	chr12:31743360-31743510	HA-sp	spinal cord:	n/a	n/a
25	YY1	chr12:31743181-31744043	GM12878	blood:	n/a	chr12:31743295-31743309 chr12:31743243-31743257 chr12:31743435-31743449
26	YY1	chr12:31742997-31744118	K562	blood:	n/a	chr12:31743295-31743309 chr12:31743082-31743096 chr12:31743076-31743087 chr12:31743243-31743257 chr12:31743166-31743177 chr12:31743435-31743449
27	EP300	chr12:31742488-31744023	ECC-1	luminal epithelium:	n/a	chr12:31743322-31743338 chr12:31743067-31743083 chr12:31743295-31743311 chr12:31743015-31743031 chr12:31743063-31743079
28	NFIC	chr12:31742545-31743400	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr12:31743040-31743555	K562	blood:	n/a	n/a
30	RCOR1	chr12:31743370-31743400	K562	blood:	n/a	n/a
31	MAX	chr12:31742722-31744366	K562	blood:	n/a	chr12:31744239-31744248
32	EBF1	chr12:31743294-31743411	GM12878	blood:	n/a	chr12:31743376-31743387
33	POLR2A	chr12:31742665-31744720	GM18951	blood:	n/a	n/a
34	FOXA1	chr12:31742636-31743600	HepG2	liver:	n/a	n/a
35	ATF3	chr12:31743379-31743631	K562	blood:	n/a	chr12:31743593-31743602
36	POLR2A	chr12:31742612-31743417	HCT-116	colon:	n/a	n/a
37	MAX	chr12:31742788-31743633	K562	blood:	n/a	n/a
38	USF1	chr12:31743006-31743456	SK-N-SH_RA	brain:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
39	BHLHE40	chr12:31742555-31744782	HepG2	liver:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229 chr12:31744029-31744045
40	MAX	chr12:31742557-31743775	ECC-1	luminal epithelium:	n/a	n/a
41	ZBTB7A	chr12:31742587-31744501	ECC-1	luminal epithelium:	n/a	chr12:31743435-31743446
42	POLR2A	chr12:31743359-31743981	H1-hESC	embryonic stem cell:	n/a	n/a
43	BHLHE40	chr12:31742679-31743687	K562	blood:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
44	SMC3	chr12:31742523-31743734	Hela-S3	cervix:	n/a	chr12:31743079-31743089
45	POLR2A	chr12:31742694-31744542	GM10847	blood:	n/a	n/a
46	MAX	chr12:31742646-31744311	ECC-1	luminal epithelium:	n/a	chr12:31744239-31744248
47	POLR2A	chr12:31742727-31744396	HepG2	liver:	n/a	n/a
48	MEF2C	chr12:31743016-31743637	GM12878	blood:	n/a	chr12:31743399-31743414 chr12:31743400-31743415 chr12:31743399-31743415
49	MYC	chr12:31742601-31743704	NB4	blood:	n/a	n/a
50	MAX	chr12:31742522-31744059	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31743367-31743417	NHBE	bronchial:	n/a
2	chr12:31743367-31743417	HRE	kidney:	n/a
3	chr12:31743367-31743417	GM12891	blood:	n/a
4	chr12:31743367-31743417	AG04449	skin:	fetal
5	chr12:31743367-31743417	SKMC	muscle:	n/a
6	chr12:31743367-31743417	ECC-1	luminal epithelium:	n/a
7	chr12:31743367-31743417	HMEC	breast:	n/a
8	chr12:31743367-31743417	HCF	heart:	n/a
9	chr12:31743367-31743417	ovcar-3	ovarian:	n/a
10	chr12:31743367-31743417	GM19239	blood:	n/a
11	chr12:31743367-31743417	H1-hESC	embryonic stem cell:	embryo
12	chr12:31743367-31743417	HCT-116	colon:	n/a
13	chr12:31743367-31743417	NH-A	brain:	n/a
14	chr12:31743367-31743417	Hela-S3	cervix:	n/a
15	chr12:31743367-31743417	PANC-1	pancreas:	n/a
16	chr12:31743367-31743417	NT2-D1	testis:	n/a
17	chr12:31743367-31743417	MCF-7	breast:	n/a
18	chr12:31743367-31743417	HCM	heart:	n/a
19	chr12:31743367-31743417	CMK	blood:	n/a
20	chr12:31743367-31743417	Jurkat	blood:	n/a
21	chr12:31743367-31743417	GM12878	blood:	n/a
22	chr12:31743367-31743417	A549	lung:	n/a
23	chr12:31743367-31743417	Hepatocyte	liver:	n/a
24	chr12:31743367-31743417	PFSK-1	brain:	n/a
25	chr12:31743367-31743417	T-47D	breast:	n/a
26	chr12:31743367-31743417	HEK293	kidney:	embryo
27	chr12:31743367-31743417	ProgFib	skin:	n/a
28	chr12:31743367-31743417	BJ	skin:	n/a
29	chr12:31743367-31743417	HIPEpiC	eye:	n/a
30	chr12:31743367-31743417	SK-N-SH	brain:	n/a
31	chr12:31743367-31743417	HCPEpiC	choroid plexus:	n/a
32	chr12:31743367-31743417	HRCEpiC	kidney:	n/a
33	chr12:31743367-31743417	SK-N-MC	brain:	n/a
34	chr12:31743367-31743417	Caco-2	colon:	n/a
35	chr12:31743367-31743417	HUVEC	blood vessel:	n/a
36	chr12:31743367-31743417	AG10803	skin:	n/a
37	chr12:31743367-31743417	HL-60	blood:	n/a
38	chr12:31743367-31743417	AG04450	lung:	fetal
39	chr12:31743367-31743417	IMR90	lung:	fetal
40	chr12:31743367-31743417	NB4	blood:	n/a
41	chr12:31743367-31743417	HAEpiC	amniotic membrane:	n/a
42	chr12:31743367-31743417	AG09319	gingival:	n/a
43	chr12:31743367-31743417	PrEC	prostate:	n/a
44	chr12:31743367-31743417	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:31743367-31743417	SK-N-SH_RA	brain:	n/a
46	chr12:31743367-31743417	LNCaP	prostate:	n/a
47	chr12:31743367-31743417	K562	blood:	n/a
48	chr12:31743367-31743417	HRPEpiC	eye:	n/a
49	chr12:31743367-31743417	HEEpiC	esophagus:	n/a
50	chr12:31743367-31743417	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
2	chr12:31477472..31480749-chr12:31741860..31744200,4	MCF-7	breast:
3	chr12:31645308..31649621-chr12:31742506..31745309,6	MCF-7	breast:
4	chr12:31743215..31744081-chr19:1875675..1876438,2	Hela-S3	cervix:

Variant related genes	Relation type
DENND5B	TF binding region
DENND5B-AS1	TF binding region
DENND5B	CpG island
DENND5B-AS1	CpG island
ENSG00000231788	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000170456	Chromatin interaction
ENSG00000261526	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak 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 Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3371967	chr12:31741685-31745983	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv558088	chr12:31742463-31743879	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv558089	chr12:31742463-31744089	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3375615	chr12:31742710-31745258	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv558090	chr12:31743194-31743825	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv558091	chr12:31743194-31743879	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv558092	chr12:31743194-31744033	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv558093	chr12:31743194-31744089	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	esv1804747	chr12:31743194-31748491	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv1840310	chr12:31743194-31750986	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv18875	chr12:31743202-31744209	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	nsv558094	chr12:31743319-31743936	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	nsv558095	chr12:31743319-31744089	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
22	nsv558096	chr12:31743365-31743936	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	nsv558097	chr12:31743365-31744033	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
24	nsv558098	chr12:31743365-31744089	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31741400-31745000	Active TSS	Ovary	ovary
2	chr12:31741600-31744200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:31741600-31744800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:31741600-31745000	Active TSS	Fetal Kidney	kidney
5	chr12:31741800-31743600	Active TSS	Right Atrium	heart
6	chr12:31741800-31744400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:31741800-31744400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:31741800-31744400	Active TSS	GM12878-XiMat	blood
9	chr12:31741800-31744800	Active TSS	Brain Cingulate Gyrus	brain
10	chr12:31741800-31745000	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:31742000-31744200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr12:31742000-31744200	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr12:31742000-31744400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:31742000-31744400	Active TSS	Fetal Intestine Small	intestine
15	chr12:31742000-31744400	Active TSS	HSMM	muscle
16	chr12:31742000-31744400	Active TSS	HSMMtube	muscle
17	chr12:31742000-31744600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:31742000-31744600	Active TSS	Brain Anterior Caudate	brain
19	chr12:31742000-31744600	Active TSS	Brain Germinal Matrix	brain
20	chr12:31742000-31744600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:31742000-31744600	Active TSS	Fetal Intestine Large	intestine
22	chr12:31742000-31744800	Active TSS	NHDF-Ad	bronchial
23	chr12:31742000-31745000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:31742000-31745000	Active TSS	Right Ventricle	heart
25	chr12:31742200-31744200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:31742200-31744200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:31742200-31744200	Active TSS	NHLF	lung
28	chr12:31742200-31744400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:31742200-31744400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:31742200-31744400	Active TSS	Brain Angular Gyrus	brain
31	chr12:31742200-31744400	Active TSS	Brain Hippocampus Middle	brain
32	chr12:31742200-31744400	Active TSS	Duodenum Mucosa	Duodenum
33	chr12:31742200-31744400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr12:31742200-31744400	Active TSS	HepG2	liver
35	chr12:31742200-31744600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr12:31742200-31744600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:31742200-31744800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:31742200-31744800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:31742200-31744800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:31742200-31744800	Active TSS	NHEK	skin
41	chr12:31742200-31745000	Active TSS	Colon Smooth Muscle	Colon
42	chr12:31742200-31745000	Active TSS	Fetal Brain Female	brain
43	chr12:31742400-31744200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:31742400-31744200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:31742400-31744200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:31742400-31744200	Active TSS	Fetal Muscle Trunk	muscle
47	chr12:31742400-31744200	Active TSS	Placenta	Placenta
48	chr12:31742400-31744200	Active TSS	HMEC	breast
49	chr12:31742400-31744400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:31742400-31744400	Active TSS	Fetal Lung	lung

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