Variant report

Variant	rs536469573
Chromosome Location	chr12:83079553-83079554
allele	C/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	POU2F2	chr12:83079485-83079803	GM12878	blood:	n/a	chr12:83079642-83079654 chr12:83079599-83079612
2	CTCF	chr12:83079534-83079842	A549	lung:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
3	MAX	chr12:83079327-83081865	A549	lung:	n/a	chr12:83081461-83081471
4	SP1	chr12:83079457-83079868	GM12878	blood:	n/a	n/a
5	CTCF	chr12:83079519-83079786	Hela-S3	cervix:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
6	YY1	chr12:83079528-83079899	GM12878	blood:	n/a	n/a
7	ATF2	chr12:83079423-83079832	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:83079492-83079885	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr12:83079467-83079865	K562	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
10	GTF2F1	chr12:83079456-83080633	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr12:83079332-83080728	ECC-1	luminal epithelium:	n/a	n/a
12	POU2F2	chr12:83079454-83079833	GM12891	blood:	n/a	chr12:83079642-83079654 chr12:83079599-83079612
13	RCOR1	chr12:83079438-83079872	GM12878	blood:	n/a	n/a
14	CTCF	chr12:83079100-83082637	A549	lung:	n/a	chr12:83079640-83079656 chr12:83081477-83081490 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83081474-83081492 chr12:83079642-83079655
15	SMARCB1	chr12:83079527-83081684	Hela-S3	cervix:	n/a	n/a
16	EP300	chr12:83079496-83080722	ECC-1	luminal epithelium:	n/a	chr12:83080664-83080680 chr12:83080009-83080023
17	POLR2A	chr12:83079548-83081869	GM18505	blood:	n/a	n/a
18	CTCF	chr12:83079540-83079690	HEEpiC	esophagus:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
19	SMC3	chr12:83079457-83079915	HepG2	liver:	n/a	chr12:83079641-83079655 chr12:83079645-83079655
20	BCLAF1	chr12:83079455-83079908	GM12878	blood:	n/a	n/a
21	CEBPB	chr12:83079437-83080568	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:83079504-83079813	MCF-7	breast:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
23	CTCF	chr12:83079494-83079815	MCF-7	breast:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
24	CTCF	chr12:83079496-83079831	GM19239	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
25	RAD21	chr12:83079371-83081744	SK-N-SH_RA	brain:	n/a	chr12:83081480-83081490 chr12:83079640-83079659 chr12:83079645-83079655 chr12:83079522-83079532 chr12:83079645-83079657
26	RELA	chr12:83079459-83080685	GM10847	blood:	n/a	chr12:83080482-83080491 chr12:83080482-83080491
27	POLR2A	chr12:83079456-83081778	GM12892	blood:	n/a	n/a
28	TAF1	chr12:83079336-83081289	MCF-7	breast:	n/a	n/a
29	SMC3	chr12:83079496-83079903	K562	blood:	n/a	chr12:83079641-83079655 chr12:83079645-83079655
30	CHD2	chr12:83079503-83079834	Hela-S3	cervix:	n/a	n/a
31	EP300	chr12:83079453-83080655	T-47D	breast:	n/a	chr12:83080009-83080023
32	CTCF	chr12:83079496-83079828	GM19238	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
33	POLR2A	chr12:83079488-83082182	GM12891	blood:	n/a	n/a
34	CTCF	chr12:83079520-83079670	GM12867	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
35	EBF1	chr12:83079511-83079895	GM12878	blood:	n/a	n/a
36	MXI1	chr12:83079433-83079933	HepG2	liver:	n/a	n/a
37	CTCF	chr12:83079522-83079790	H1-hESC	embryonic stem cell:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
38	YY1	chr12:83079475-83079836	GM12892	blood:	n/a	n/a
39	MXI1	chr12:83079361-83081979	IMR90	lung:	n/a	n/a
40	CTCF	chr12:83079520-83079670	HMEC	breast:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
41	MAX	chr12:83079444-83080001	NB4	blood:	n/a	n/a
42	FOXA2	chr12:83079459-83079900	A549	lung:	n/a	n/a
43	RAD21	chr12:83079391-83080526	ECC-1	luminal epithelium:	n/a	chr12:83079640-83079659 chr12:83079645-83079655 chr12:83079522-83079532 chr12:83079645-83079657
44	POLR2A	chr12:83079446-83079881	SK-N-SH	brain:	n/a	n/a
45	RFX5	chr12:83079483-83079860	GM12878	blood:	n/a	n/a
46	CTCF	chr12:83079516-83079772	GM13976	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655
47	JUND	chr12:83079461-83079831	H1-hESC	embryonic stem cell:	n/a	n/a
48	FOXA1	chr12:83079394-83079793	HepG2	liver:	n/a	n/a
49	RFX5	chr12:83079552-83079966	HepG2	liver:	n/a	n/a
50	CTCF	chr12:83079467-83079829	K562	blood:	n/a	chr12:83079640-83079656 chr12:83079639-83079657 chr12:83079644-83079654 chr12:83079642-83079655

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:83079551-83079601	HRCEpiC	kidney:	n/a
2	chr12:83079551-83079601	HRPEpiC	eye:	n/a
3	chr12:83079551-83079601	BJ	skin:	n/a
4	chr12:83079551-83079601	BE2_C	brain:	n/a
5	chr12:83079551-83079601	SAEC	small airway:	n/a
6	chr12:83079551-83079601	HCPEpiC	choroid plexus:	n/a
7	chr12:83079551-83079601	PrEC	prostate:	n/a
8	chr12:83079551-83079601	HEEpiC	esophagus:	n/a
9	chr12:83079551-83079601	AG04450	lung:	fetal
10	chr12:83079551-83079601	NH-A	brain:	n/a
11	chr12:83079551-83079601	NHBE	bronchial:	n/a
12	chr12:83079551-83079601	HAEpiC	amniotic membrane:	n/a
13	chr12:83079551-83079601	A549	lung:	n/a
14	chr12:83079551-83079601	Hela-S3	cervix:	n/a
15	chr12:83079551-83079601	HEK293	kidney:	embryo
16	chr12:83079551-83079601	GM12892	blood:	n/a
17	chr12:83079551-83079601	ovcar-3	ovarian:	n/a
18	chr12:83079551-83079601	CMK	blood:	n/a
19	chr12:83079551-83079601	HL-60	blood:	n/a
20	chr12:83079551-83079601	GM06990	blood:	n/a
21	chr12:83079551-83079601	ProgFib	skin:	n/a
22	chr12:83079551-83079601	ECC-1	luminal epithelium:	n/a
23	chr12:83079551-83079601	GM12891	blood:	n/a
24	chr12:83079551-83079601	Jurkat	blood:	n/a
25	chr12:83079551-83079601	NHDF-neo	bronchial:	n/a
26	chr12:83079551-83079601	GM19239	blood:	n/a
27	chr12:83079551-83079601	SK-N-SH	brain:	n/a
28	chr12:83079551-83079601	PFSK-1	brain:	n/a
29	chr12:83079551-83079601	LNCaP	prostate:	n/a
30	chr12:83079551-83079601	HIPEpiC	eye:	n/a
31	chr12:83079551-83079601	Hepatocyte	liver:	n/a
32	chr12:83079551-83079601	SK-N-MC	brain:	n/a
33	chr12:83079551-83079601	Caco-2	colon:	n/a
34	chr12:83079551-83079601	AoSMC	blood vessel:	n/a
35	chr12:83079551-83079601	AG04449	skin:	fetal
36	chr12:83079551-83079601	HCF	heart:	n/a
37	chr12:83079551-83079601	AG10803	skin:	n/a
38	chr12:83079551-83079601	AG09319	gingival:	n/a
39	chr12:83079551-83079601	U87	brain:	n/a
40	chr12:83079551-83079601	AG09309	skin:	n/a
41	chr12:83079551-83079601	HMEC	breast:	n/a
42	chr12:83079551-83079601	SK-N-SH_RA	brain:	n/a
43	chr12:83079551-83079601	HCM	heart:	n/a
44	chr12:83079551-83079601	IMR90	lung:	fetal
45	chr12:83079551-83079601	MCF10A-Er-Src	breast:	n/a
46	chr12:83079551-83079601	NT2-D1	testis:	n/a
47	chr12:83079551-83079601	GM12878	blood:	n/a
48	chr12:83079551-83079601	RPTEC	kidney:	n/a
49	chr12:83079551-83079601	SKMC	muscle:	n/a
50	chr12:83079551-83079601	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:83079314..83080074-chr12:83165496..83166214,2	MCF-7	breast:
2	chr12:83079259..83080112-chr12:83782817..83783839,5	MCF-7	breast:
3	chr12:83079542..83080051-chr12:83782752..83783696,2	MCF-7	breast:
4	chr12:83078627..83080390-chr12:83781749..83784378,2	MCF-7	breast:
5	chr12:83077655..83080172-chr12:83389847..83391869,2	MCF-7	breast:
6	chr12:83079205..83080097-chr12:84217208..84218130,4	MCF-7	breast:
7	chr12:83078910..83080496-chr12:83405630..83407973,2	MCF-7	breast:
8	chr12:83079157..83079752-chr12:84896786..84897429,2	MCF-7	breast:
9	chr12:83079302..83080209-chr12:83828151..83829089,2	MCF-7	breast:
10	chr12:83079271..83080216-chr12:84217192..84217878,5	MCF-7	breast:
11	chr12:83078982..83081661-chr3:63848631..63850534,2	MCF-7	breast:
12	chr12:83078866..83080454-chr12:83132820..83134992,2	MCF-7	breast:

Variant related genes	Relation type
TMTC2	TF binding region
TMTC2	CpG island
ENSG00000163634	Chromatin interaction
ENSG00000163635	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3348300	chr12:83079532-83086951	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83075800-83079600	Enhancers	Stomach Mucosa	stomach
2	chr12:83076200-83079600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:83076600-83079600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:83077000-83079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:83077000-83079600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:83077000-83079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:83077000-83079600	Weak transcription	Brain Anterior Caudate	brain
8	chr12:83077000-83079600	Weak transcription	Fetal Brain Female	brain
9	chr12:83077000-83079600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:83077200-83079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:83077200-83079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:83077400-83079600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:83079400-83079600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:83079400-83079600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:83079400-83079600	Enhancers	Primary B cells from cord blood	blood
16	chr12:83079400-83079600	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:83079400-83079600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:83079400-83079600	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:83079400-83079600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:83079400-83079600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:83079400-83079600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:83079400-83079600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:83079400-83079600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:83079400-83079600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:83079400-83079600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr12:83079400-83079600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:83079400-83079600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:83079400-83079600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:83079400-83079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:83079400-83079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:83079400-83079600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:83079400-83079600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:83079400-83079600	Enhancers	Adipose Nuclei	Adipose
34	chr12:83079400-83079600	Enhancers	Liver	Liver
35	chr12:83079400-83079600	Enhancers	Brain Angular Gyrus	brain
36	chr12:83079400-83079600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr12:83079400-83079600	Enhancers	Brain Germinal Matrix	brain
38	chr12:83079400-83079600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr12:83079400-83079600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:83079400-83079600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:83079400-83079600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr12:83079400-83079600	Enhancers	Colon Smooth Muscle	Colon
43	chr12:83079400-83079600	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:83079400-83079600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:83079400-83079600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:83079400-83079600	Enhancers	Fetal Brain Male	brain
47	chr12:83079400-83079600	Enhancers	Fetal Kidney	kidney
48	chr12:83079400-83079600	Enhancers	Fetal Lung	lung
49	chr12:83079400-83079600	Enhancers	Fetal Muscle Trunk	muscle
50	chr12:83079400-83079600	Enhancers	Fetal Muscle Leg	muscle

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