Variant report

Variant	rs372412941
Chromosome Location	chr12:50794092-50794093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr12:50793716-50795503	MCF-7	breast:	n/a	n/a
2	TBP	chr12:50794041-50795199	HepG2	liver:	n/a	n/a
3	NFATC1	chr12:50794082-50794686	GM12878	blood:	n/a	n/a
4	GTF3C2	chr12:50793568-50794516	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:50794022-50795408	Raji	blood:	n/a	n/a
6	PML	chr12:50794038-50795134	K562	blood:	n/a	n/a
7	SIX5	chr12:50793795-50795541	A549	lung:	n/a	n/a
8	HCFC1	chr12:50793659-50796979	Hela-S3	cervix:	n/a	n/a
9	MAX	chr12:50794072-50795544	HCT-116	colon:	n/a	chr12:50794883-50794893
10	RUNX3	chr12:50793945-50795542	GM12878	blood:	n/a	n/a
11	CUX1	chr12:50793956-50794788	K562	blood:	n/a	n/a
12	ZNF384	chr12:50794036-50794829	K562	blood:	n/a	n/a
13	POLR2A	chr12:50794043-50795395	HepG2	liver:	n/a	n/a
14	NR2F2	chr12:50793846-50795251	K562	blood:	n/a	n/a
15	NFIC	chr12:50794051-50795335	GM12878	blood:	n/a	n/a
16	MAX	chr12:50794001-50795871	ECC-1	luminal epithelium:	n/a	chr12:50794883-50794893
17	TCF7L2	chr12:50793998-50795777	PANC-1	pancreas:	n/a	chr12:50795419-50795433
18	BACH1	chr12:50794088-50794528	K562	blood:	n/a	n/a
19	GATA3	chr12:50794021-50795148	A549	lung:	n/a	chr12:50794527-50794540 chr12:50794708-50794718
20	ZNF384	chr12:50793983-50794691	GM12878	blood:	n/a	n/a
21	EP300	chr12:50794055-50795973	ECC-1	luminal epithelium:	n/a	chr12:50794645-50794661 chr12:50794429-50794436 chr12:50795177-50795193 chr12:50794258-50794272
22	ZNF217	chr12:50794075-50794152	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:50793897-50795206	PFSK-1	brain:	n/a	n/a
24	TCF12	chr12:50793865-50795875	A549	lung:	n/a	n/a
25	SREBP1	chr12:50793715-50796327	GM12878	blood:	n/a	n/a
26	MYBL2	chr12:50793918-50795238	HepG2	liver:	n/a	n/a
27	CHD1	chr12:50793862-50797087	IMR90	lung:	n/a	n/a
28	MYBL2	chr12:50793985-50795308	HepG2	liver:	n/a	n/a
29	TAL1	chr12:50794062-50795002	K562	blood:	n/a	n/a
30	POLR2A	chr12:50793926-50795923	MCF10A-Er-Src	breast:	n/a	n/a
31	REST	chr12:50793907-50795139	A549	lung:	n/a	chr12:50794936-50794946
32	MXI1	chr12:50794037-50796857	IMR90	lung:	n/a	n/a
33	NFIC	chr12:50793970-50794806	GM12878	blood:	n/a	n/a
34	TCF7L2	chr12:50794015-50794588	MCF-7	breast:	n/a	n/a
35	SP1	chr12:50794025-50795232	A549	lung:	n/a	chr12:50795132-50795142 chr12:50795131-50795143 chr12:50795131-50795143 chr12:50795128-50795142 chr12:50795132-50795141
36	POLR2A	chr12:50793905-50795962	MCF10A-Er-Src	breast:	n/a	n/a
37	MXI1	chr12:50793934-50795945	SK-N-SH	brain:	n/a	n/a
38	TBP	chr12:50793877-50795088	Hela-S3	cervix:	n/a	n/a
39	KAP1	chr12:50794035-50795100	K562	blood:	n/a	n/a
40	GABPA	chr12:50793962-50795208	HL-60	blood:	n/a	n/a
41	MXI1	chr12:50794037-50795930	Hela-S3	cervix:	n/a	n/a
42	CBX3	chr12:50793981-50795103	K562	blood:	n/a	n/a
43	SIX5	chr12:50794086-50794868	A549	lung:	n/a	n/a
44	CHD1	chr12:50794047-50794835	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr12:50793721-50795977	SK-N-SH	brain:	n/a	chr12:50795851-50795860
46	TBP	chr12:50793984-50795336	GM12878	blood:	n/a	n/a
47	TCF7L2	chr12:50794014-50795796	Hela-S3	cervix:	n/a	chr12:50795419-50795433
48	POLR2A	chr12:50793938-50795249	HUVEC	blood vessel:	n/a	n/a
49	TEAD4	chr12:50793910-50795861	K562	blood:	n/a	n/a
50	GABPA	chr12:50793827-50795481	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50794088-50794138	U87	brain:	n/a
2	chr12:50794088-50794138	NHDF-neo	bronchial:	n/a
3	chr12:50794088-50794138	HRCEpiC	kidney:	n/a
4	chr12:50794088-50794138	HIPEpiC	eye:	n/a
5	chr12:50794088-50794138	T-47D	breast:	n/a
6	chr12:50794088-50794138	AG04449	skin:	fetal
7	chr12:50794088-50794138	LNCaP	prostate:	n/a
8	chr12:50794088-50794138	MCF10A-Er-Src	breast:	n/a
9	chr12:50794088-50794138	HEK293	kidney:	embryo
10	chr12:50794088-50794138	GM06990	blood:	n/a
11	chr12:50794088-50794138	Hepatocyte	liver:	n/a
12	chr12:50794088-50794138	ProgFib	skin:	n/a
13	chr12:50794088-50794138	HRPEpiC	eye:	n/a
14	chr12:50794088-50794138	ECC-1	luminal epithelium:	n/a
15	chr12:50794088-50794138	RPTEC	kidney:	n/a
16	chr12:50794088-50794138	HEEpiC	esophagus:	n/a
17	chr12:50794088-50794138	HUVEC	blood vessel:	n/a
18	chr12:50794088-50794138	NH-A	brain:	n/a
19	chr12:50794088-50794138	HNPCEpiC	eye:	n/a
20	chr12:50794088-50794138	H1-hESC	embryonic stem cell:	embryo
21	chr12:50794088-50794138	SAEC	small airway:	n/a
22	chr12:50794088-50794138	PFSK-1	brain:	n/a
23	chr12:50794088-50794138	HRE	kidney:	n/a
24	chr12:50794088-50794138	BE2_C	brain:	n/a
25	chr12:50794088-50794138	Jurkat	blood:	n/a
26	chr12:50794088-50794138	ovcar-3	ovarian:	n/a
27	chr12:50794088-50794138	MCF-7	breast:	n/a
28	chr12:50794088-50794138	HMEC	breast:	n/a
29	chr12:50794088-50794138	AG04450	lung:	fetal
30	chr12:50794088-50794138	A549	lung:	n/a
31	chr12:50794088-50794138	AG09319	gingival:	n/a
32	chr12:50794088-50794138	HL-60	blood:	n/a
33	chr12:50794088-50794138	AG10803	skin:	n/a
34	chr12:50794088-50794138	SK-N-MC	brain:	n/a
35	chr12:50794088-50794138	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:50794088-50794138	GM12892	blood:	n/a
37	chr12:50794088-50794138	HCF	heart:	n/a
38	chr12:50794088-50794138	HCM	heart:	n/a
39	chr12:50794088-50794138	GM12878	blood:	n/a
40	chr12:50794088-50794138	HAEpiC	amniotic membrane:	n/a
41	chr12:50794088-50794138	HCPEpiC	choroid plexus:	n/a
42	chr12:50794088-50794138	CMK	blood:	n/a
43	chr12:50794088-50794138	HCT-116	colon:	n/a
44	chr12:50794088-50794138	K562	blood:	n/a
45	chr12:50794088-50794138	NHBE	bronchial:	n/a
46	chr12:50794088-50794138	SKMC	muscle:	n/a
47	chr12:50794088-50794138	BJ	skin:	n/a
48	chr12:50794088-50794138	NB4	blood:	n/a
49	chr12:50794088-50794138	HepG2	liver:	n/a
50	chr12:50794088-50794138	Hela-S3	cervix:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50416797..50419367-chr12:50793748..50795984,3	K562	blood:
2	chr12:50677350..50679861-chr12:50792501..50795030,2	K562	blood:
3	chr12:50495184..50497904-chr12:50792002..50794811,2	K562	blood:
4	chr12:50560048..50562244-chr12:50793488..50796318,2	MCF-7	breast:
5	chr12:50793053..50795901-chr12:51566225..51568182,2	K562	blood:
6	chr12:50504921..50507290-chr12:50793420..50795913,2	K562	blood:
7	chr12:50614841..50617436-chr12:50793138..50795396,3	K562	blood:
8	chr12:50793597..50795392-chr12:51156771..51159161,2	MCF-7	breast:
9	chr12:50611453..50613308-chr12:50792675..50795177,2	K562	blood:
10	chr12:50792642..50794335-chr12:50796337..50798839,2	MCF-7	breast:
11	chr12:50639732..50644182-chr12:50792343..50795361,4	K562	blood:
12	chr12:50614841..50617436-chr12:50793138..50796219,5	K562	blood:
13	chr12:50787607..50792856-chr12:50793045..50797935,10	K562	blood:
14	chr12:50758172..50761780-chr12:50791230..50796188,4	K562	blood:
15	chr12:50744030..50745748-chr12:50793472..50795953,2	K562	blood:

No data

Variant related genes	Relation type
FAM186A	TF binding region
LARP4	TF binding region
LARP4	CpG island
FAM186A	CpG island
ENSG00000167588	Chromatin interaction
ENSG00000244266	Chromatin interaction
ENSG00000257531	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000161800	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000185958	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000203433	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
10	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50782800-50794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:50790600-50794200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:50790800-50794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:50791400-50794200	Weak transcription	Placenta	Placenta
5	chr12:50793600-50794400	Flanking Active TSS	Dnd41	blood
6	chr12:50793600-50796800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:50793800-50794200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:50793800-50794400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:50793800-50794800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:50793800-50794800	Active TSS	HepG2	liver
11	chr12:50793800-50795000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:50793800-50795400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:50793800-50795400	Active TSS	Duodenum Mucosa	Duodenum
14	chr12:50793800-50795400	Active TSS	Fetal Brain Female	brain
15	chr12:50793800-50796200	Active TSS	Brain Germinal Matrix	brain
16	chr12:50793800-50796200	Active TSS	NHEK	skin
17	chr12:50793800-50796400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:50793800-50796400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:50793800-50796400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:50793800-50796600	Active TSS	Hela-S3	cervix
21	chr12:50793800-50797000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:50793800-50797000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:50793800-50797000	Active TSS	Fetal Intestine Large	intestine
24	chr12:50793800-50797400	Active TSS	K562	blood
25	chr12:50793800-50798000	Active TSS	GM12878-XiMat	blood
26	chr12:50794000-50794200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:50794000-50794200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:50794000-50794200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:50794000-50794200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:50794000-50794200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:50794000-50794200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr12:50794000-50794200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:50794000-50794200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:50794000-50794200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:50794000-50794200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:50794000-50794200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:50794000-50794200	Flanking Active TSS	Liver	Liver
38	chr12:50794000-50794200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:50794000-50794200	Flanking Active TSS	Fetal Kidney	kidney
40	chr12:50794000-50794200	Flanking Active TSS	Fetal Lung	lung
41	chr12:50794000-50794200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr12:50794000-50794200	Flanking Active TSS	HMEC	breast
43	chr12:50794000-50794200	Enhancers	HSMM	muscle
44	chr12:50794000-50794200	Flanking Active TSS	HUVEC	blood vessel
45	chr12:50794000-50794200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr12:50794000-50794400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:50794000-50794400	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr12:50794000-50794400	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr12:50794000-50794400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr12:50794000-50794400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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