Variant report

Variant	rs186909849
Chromosome Location	chr12:83080245-83080246
allele	A/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	POLR2A	chr12:83080052-83080670	GM12891	blood:	n/a	n/a
2	STAT3	chr12:83080156-83080793	MCF10A-Er-Src	breast:	n/a	chr12:83080255-83080267
3	ZNF217	chr12:83080088-83080437	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:83080214-83081090	GM12878	blood:	n/a	n/a
5	MAX	chr12:83079327-83081865	A549	lung:	n/a	chr12:83081461-83081471
6	NFIC	chr12:83079914-83080663	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:83079620-83081222	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:83080069-83081879	H1-hESC	embryonic stem cell:	n/a	n/a
9	IRF4	chr12:83079967-83080516	GM12878	blood:	n/a	n/a
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	POLR2A	chr12:83080204-83081177	SK-N-SH	brain:	n/a	n/a
13	PAX5	chr12:83080111-83080500	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	GATA3	chr12:83080063-83080434	MCF-7	breast:	n/a	n/a
16	SMARCB1	chr12:83079527-83081684	Hela-S3	cervix:	n/a	n/a
17	EP300	chr12:83079496-83080722	ECC-1	luminal epithelium:	n/a	chr12:83080664-83080680 chr12:83080009-83080023
18	POLR2A	chr12:83079548-83081869	GM18505	blood:	n/a	n/a
19	SIN3AK20	chr12:83079999-83080601	A549	lung:	n/a	n/a
20	CEBPB	chr12:83079437-83080568	MCF-7	breast:	n/a	n/a
21	POLR2A	chr12:83080241-83080739	A549	lung:	n/a	n/a
22	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
23	POLR2A	chr12:83080194-83081193	A549	lung:	n/a	n/a
24	RELA	chr12:83079459-83080685	GM10847	blood:	n/a	chr12:83080482-83080491 chr12:83080482-83080491
25	POLR2A	chr12:83079456-83081778	GM12892	blood:	n/a	n/a
26	ZBTB7A	chr12:83080118-83080591	ECC-1	luminal epithelium:	n/a	n/a
27	TAF1	chr12:83079336-83081289	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:83080240-83080390	AG10803	skin:	n/a	n/a
29	EP300	chr12:83079453-83080655	T-47D	breast:	n/a	chr12:83080009-83080023
30	POLR2A	chr12:83080074-83081240	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:83079488-83082182	GM12891	blood:	n/a	n/a
32	BCLAF1	chr12:83080074-83080737	GM12878	blood:	n/a	n/a
33	TCF3	chr12:83080128-83080493	GM12878	blood:	n/a	n/a
34	MXI1	chr12:83079361-83081979	IMR90	lung:	n/a	n/a
35	MAX	chr12:83080145-83081715	GM12878	blood:	n/a	chr12:83081461-83081471
36	RAD21	chr12:83079391-83080526	ECC-1	luminal epithelium:	n/a	chr12:83079640-83079659 chr12:83079645-83079655 chr12:83079522-83079532 chr12:83079645-83079657
37	TAF1	chr12:83080118-83081093	A549	lung:	n/a	n/a
38	EP300	chr12:83080008-83080509	T-47D	breast:	n/a	chr12:83080009-83080023
39	SIN3AK20	chr12:83079411-83081281	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:83079532-83081898	H1-neurons	neurons:	n/a	n/a
41	FOXM1	chr12:83080071-83080685	GM12878	blood:	n/a	n/a
42	TCF7L2	chr12:83080083-83080476	MCF-7	breast:	n/a	n/a
43	GATA3	chr12:83079951-83080703	T-47D	breast:	n/a	n/a
44	KAP1	chr12:83079531-83080476	HEK293	kidney:	n/a	chr12:83079919-83079927
45	RELA	chr12:83079430-83081108	GM12891	blood:	n/a	chr12:83080482-83080491 chr12:83080482-83080491
46	POLR2A	chr12:83079413-83082202	GM18951	blood:	n/a	n/a
47	MYC	chr12:83080213-83080424	MCF-7	breast:	n/a	n/a
48	POLR2A	chr12:83079925-83081687	MCF-7	breast:	n/a	n/a
49	USF2	chr12:83080102-83080675	GM12878	blood:	n/a	chr12:83080366-83080382 chr12:83080358-83080374
50	TCF12	chr12:83079357-83080762	ECC-1	luminal epithelium:	n/a	chr12:83080410-83080420

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:83080208-83080258	HUVEC	blood vessel:	n/a
2	chr12:83080208-83080258	LNCaP	prostate:	n/a
3	chr12:83080208-83080258	Jurkat	blood:	n/a
4	chr12:83080208-83080258	GM06990	blood:	n/a
5	chr12:83080208-83080258	Hela-S3	cervix:	n/a
6	chr12:83080208-83080258	HNPCEpiC	eye:	n/a
7	chr12:83080208-83080258	HCF	heart:	n/a
8	chr12:83080208-83080258	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:83080208-83080258	AG04449	skin:	fetal
10	chr12:83080208-83080258	GM12892	blood:	n/a
11	chr12:83080208-83080258	MCF-7	breast:	n/a
12	chr12:83080208-83080258	T-47D	breast:	n/a
13	chr12:83080208-83080258	GM12878	blood:	n/a
14	chr12:83080208-83080258	SK-N-SH	brain:	n/a
15	chr12:83080208-83080258	HL-60	blood:	n/a
16	chr12:83080208-83080258	HEEpiC	esophagus:	n/a
17	chr12:83080208-83080258	SK-N-SH_RA	brain:	n/a
18	chr12:83080208-83080258	AoSMC	blood vessel:	n/a
19	chr12:83080208-83080258	GM19239	blood:	n/a
20	chr12:83080208-83080258	NH-A	brain:	n/a
21	chr12:83080208-83080258	AG04450	lung:	fetal
22	chr12:83080208-83080258	ovcar-3	ovarian:	n/a
23	chr12:83080208-83080258	NHBE	bronchial:	n/a
24	chr12:83080208-83080258	HAEpiC	amniotic membrane:	n/a
25	chr12:83080208-83080258	SKMC	muscle:	n/a
26	chr12:83080208-83080258	HMEC	breast:	n/a
27	chr12:83080208-83080258	Caco-2	colon:	n/a
28	chr12:83080208-83080258	CMK	blood:	n/a
29	chr12:83080208-83080258	HRCEpiC	kidney:	n/a
30	chr12:83080208-83080258	PrEC	prostate:	n/a
31	chr12:83080208-83080258	GM12891	blood:	n/a
32	chr12:83080208-83080258	AG10803	skin:	n/a
33	chr12:83080208-83080258	SK-N-MC	brain:	n/a
34	chr12:83080208-83080258	K562	blood:	n/a
35	chr12:83080208-83080258	MCF10A-Er-Src	breast:	n/a
36	chr12:83080208-83080258	NT2-D1	testis:	n/a
37	chr12:83080208-83080258	U87	brain:	n/a
38	chr12:83080208-83080258	NB4	blood:	n/a
39	chr12:83080208-83080258	BE2_C	brain:	n/a
40	chr12:83080208-83080258	SAEC	small airway:	n/a
41	chr12:83080208-83080258	AG09309	skin:	n/a
42	chr12:83080208-83080258	HCM	heart:	n/a
43	chr12:83080208-83080258	PANC-1	pancreas:	n/a
44	chr12:83080208-83080258	IMR90	lung:	fetal
45	chr12:83080208-83080258	PFSK-1	brain:	n/a
46	chr12:83080208-83080258	ECC-1	luminal epithelium:	n/a
47	chr12:83080208-83080258	ProgFib	skin:	n/a
48	chr12:83080208-83080258	RPTEC	kidney:	n/a
49	chr12:83080208-83080258	HIPEpiC	eye:	n/a
50	chr12:83080208-83080258	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:83079676..83081707-chr12:83150851..83153057,2	MCF-7	breast:
2	chr12:83078627..83080390-chr12:83781749..83784378,2	MCF-7	breast:
3	chr12:83079877..83081535-chr12:120728404..120731286,2	MCF-7	breast:
4	chr12:83078910..83080496-chr12:83405630..83407973,2	MCF-7	breast:
5	chr12:83079605..83080356-chr12:83398378..83399038,2	MCF-7	breast:
6	chr12:83078982..83081661-chr3:63848631..63850534,2	MCF-7	breast:
7	chr12:83078866..83080454-chr12:83132820..83134992,2	MCF-7	breast:

Variant related genes	Relation type
TMTC2	TF binding region
TMTC2	CpG island
ENSG00000179104	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000200795	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83079400-83081000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:83079400-83081400	Active TSS	Primary T cells from cord blood	blood
3	chr12:83079400-83081800	Active TSS	Hela-S3	cervix
4	chr12:83079400-83082200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:83079400-83082400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:83079400-83084200	Active TSS	Fetal Intestine Large	intestine
7	chr12:83079600-83080400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:83079600-83080400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:83079600-83080400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:83079600-83080400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:83079600-83080400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr12:83079600-83080400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:83079600-83080400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:83079600-83080400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:83079600-83080400	Active TSS	Brain Germinal Matrix	brain
16	chr12:83079600-83080400	ZNF genes & repeats	Fetal Brain Male	brain
17	chr12:83079600-83080400	Flanking Active TSS	Fetal Thymus	thymus
18	chr12:83079600-83080400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:83079600-83080800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:83079600-83081400	Active TSS	Duodenum Mucosa	Duodenum
21	chr12:83079600-83081400	Active TSS	Osteobl	bone
22	chr12:83079600-83081600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:83079600-83081600	Active TSS	Fetal Intestine Small	intestine
24	chr12:83079600-83081800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:83079600-83081800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:83079600-83081800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr12:83079600-83081800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr12:83079600-83081800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:83079600-83081800	Active TSS	Fetal Brain Female	brain
30	chr12:83079600-83082000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:83079600-83082000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr12:83079600-83082000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr12:83079600-83082000	Active TSS	A549	lung
34	chr12:83079600-83082200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:83079600-83082200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr12:83079600-83082200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:83079600-83082200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:83079600-83082200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:83079600-83082200	Active TSS	Esophagus	oesophagus
40	chr12:83079600-83082200	Active TSS	Pancreas	Pancrea
41	chr12:83079600-83082200	Active TSS	Stomach Mucosa	stomach
42	chr12:83079600-83082200	Active TSS	HSMM	muscle
43	chr12:83079600-83082400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr12:83079600-83082400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:83079600-83082400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:83079600-83082400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:83079600-83082400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:83079600-83082400	Active TSS	Right Ventricle	heart
49	chr12:83079600-83082600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:83079600-83082600	Active TSS	Left Ventricle	heart

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