Variant report

Variant	rs372818571
Chromosome Location	chr12:12714403-12714404
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	TBP	chr12:12713627-12714716	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:12713681-12714935	HepG2	liver:	n/a	n/a
3	SMC3	chr12:12713758-12714720	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:12714372-12715353	K562	blood:	n/a	n/a
5	JUND	chr12:12714010-12716138	K562	blood:	n/a	chr12:12715384-12715393 chr12:12715493-12715502
6	POLR2A	chr12:12713706-12714961	GM12878	blood:	n/a	n/a
7	BCLAF1	chr12:12713612-12714768	GM12878	blood:	n/a	chr12:12714732-12714745 chr12:12714735-12714748 chr12:12713831-12713840
8	POLR2A	chr12:12713503-12716782	HepG2	liver:	n/a	n/a
9	ZBTB7A	chr12:12714188-12716298	ECC-1	luminal epithelium:	n/a	chr12:12715455-12715469 chr12:12714468-12714476 chr12:12715115-12715123
10	POU2F2	chr12:12714357-12714878	GM12891	blood:	n/a	n/a
11	MYBL2	chr12:12713667-12714516	HepG2	liver:	n/a	chr12:12713758-12713771
12	POLR2A	chr12:12713801-12715363	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr12:12713765-12714479	K562	blood:	n/a	n/a
14	CEBPB	chr12:12714004-12714771	H1-hESC	embryonic stem cell:	n/a	chr12:12714128-12714139
15	CEBPB	chr12:12713952-12714822	IMR90	lung:	n/a	chr12:12714128-12714139
16	SMC3	chr12:12713628-12714678	GM12878	blood:	n/a	n/a
17	MAZ	chr12:12713940-12716143	K562	blood:	n/a	chr12:12714863-12714872 chr12:12714847-12714857
18	POLR2A	chr12:12713986-12716119	HUVEC	blood vessel:	n/a	n/a
19	REST	chr12:12714364-12714784	HepG2	liver:	n/a	chr12:12714541-12714554
20	BHLHE40	chr12:12714066-12714708	K562	blood:	n/a	n/a
21	CEBPB	chr12:12713894-12714807	A549	lung:	n/a	chr12:12714128-12714139
22	MAZ	chr12:12713817-12714782	GM12878	blood:	n/a	n/a
23	SPI1	chr12:12713486-12714432	GM12878	blood:	n/a	chr12:12713831-12713840
24	EP300	chr12:12713682-12714659	GM12878	blood:	n/a	chr12:12714007-12714021 chr12:12714126-12714140 chr12:12713910-12713924 chr12:12713901-12713915
25	PML	chr12:12713634-12714946	GM12878	blood:	n/a	n/a
26	CHD1	chr12:12711450-12716107	GM12878	blood:	n/a	n/a
27	CHD1	chr12:12713235-12714685	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMARCC2	chr12:12713739-12714796	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr12:12713877-12714903	ECC-1	luminal epithelium:	n/a	chr12:12714128-12714139
30	POLR2A	chr12:12713421-12715350	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:12713382-12716397	GM12878	blood:	n/a	n/a
32	RUNX3	chr12:12713632-12714760	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:12713620-12716156	GM18505	blood:	n/a	n/a
34	FOXA2	chr12:12713694-12714713	HepG2	liver:	n/a	chr12:12713985-12713997
35	MAX	chr12:12713746-12715418	A549	lung:	n/a	chr12:12714863-12714872 chr12:12714847-12714857
36	BCLAF1	chr12:12713562-12715025	GM12878	blood:	n/a	chr12:12714772-12714785 chr12:12714841-12714854 chr12:12714732-12714745 chr12:12714735-12714748 chr12:12713831-12713840
37	TAF1	chr12:12713710-12715226	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:12713623-12714759	HepG2	liver:	n/a	n/a
39	NFIC	chr12:12714368-12714883	ECC-1	luminal epithelium:	n/a	n/a
40	MYC	chr12:12714007-12714976	K562	blood:	n/a	chr12:12714863-12714872 chr12:12714847-12714857
41	POLR2A	chr12:12714032-12716008	K562	blood:	n/a	n/a
42	TAF1	chr12:12714321-12714737	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:12714372-12714833	ECC-1	luminal epithelium:	n/a	n/a
44	TCF7L2	chr12:12713964-12714895	Hela-S3	cervix:	n/a	n/a
45	TAF7	chr12:12714366-12715240	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr12:12714255-12714505	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr12:12713937-12714797	K562	blood:	n/a	chr12:12714128-12714139
48	YY1	chr12:12714333-12715200	GM12892	blood:	n/a	chr12:12715146-12715155
49	YY1	chr12:12714374-12715294	GM12878	blood:	n/a	chr12:12715146-12715155
50	POLR2A	chr12:12713914-12716242	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:12418062..12421378-chr12:12712958..12715949,4	MCF-7	breast:
2	chr12:12634486..12639853-chr12:12714024..12717789,5	K562	blood:
3	chr12:12713858..12718896-chr12:12719623..12723320,7	MCF-7	breast:
4	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
5	chr12:12714295..12715106-chr7:4814976..4815762,2	Hela-S3	cervix:
6	chr12:12712251..12716973-chr12:12867058..12873344,10	MCF-7	breast:
7	chr12:12714157..12716777-chr12:12764288..12766468,3	MCF-7	breast:
8	chr12:12672602..12674761-chr12:12714230..12715790,2	MCF-7	breast:
9	chr12:12712910..12717920-chr12:12867983..12871802,5	K562	blood:
10	chr12:12657878..12659784-chr12:12714344..12718404,3	K562	blood:
11	chr12:12712965..12715376-chr12:12848428..12850169,2	K562	blood:
12	chr12:12713075..12717194-chr12:12718362..12721939,6	K562	blood:
13	chr12:12603843..12606415-chr12:12711459..12714793,4	MCF-7	breast:
14	chr12:12713899..12715883-chr12:12875674..12879074,4	MCF-7	breast:
15	chr12:12711165..12717532-chr12:12865354..12880919,24	MCF-7	breast:
16	chr12:12713736..12716645-chr12:14925588..14929665,3	MCF-7	breast:
17	chr12:12502650..12504579-chr12:12713839..12715957,2	MCF-7	breast:
18	chr12:12713891..12716367-chr3:161087265..161090021,2	MCF-7	breast:
19	chr12:12713685..12716948-chr12:12760123..12768151,9	K562	blood:
20	chr12:12713534..12716816-chr12:12876902..12880504,5	K562	blood:
21	chr12:12713878..12715518-chr12:14922092..14923933,2	MCF-7	breast:
22	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
23	chr12:12507988..12510235-chr12:12714031..12716523,2	MCF-7	breast:

Variant related genes	Relation type
DUSP16	TF binding region
ENSG00000178878	Chromatin interaction
ENSG00000255670	Chromatin interaction
ENSG00000197837	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000271370	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000165714	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000240424	Chromatin interaction
ENSG00000183150	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000205791	Chromatin interaction
ENSG00000246705	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3325054	chr12:12713710-12717058	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8922	chr12:12714292-12716467	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	esv3432721	chr12:12714335-12716833	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12711400-12716000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr12:12711600-12716000	Active TSS	GM12878-XiMat	blood
3	chr12:12711600-12716200	Active TSS	Liver	Liver
4	chr12:12711600-12716200	Active TSS	Duodenum Mucosa	Duodenum
5	chr12:12711600-12716200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr12:12712000-12716000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:12712000-12716000	Active TSS	Fetal Intestine Large	intestine
8	chr12:12712000-12716200	Active TSS	Fetal Intestine Small	intestine
9	chr12:12712200-12716200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:12712400-12714800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr12:12712600-12716000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:12712600-12716000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:12712600-12716000	Active TSS	Colonic Mucosa	Colon
14	chr12:12712600-12716000	Active TSS	Fetal Brain Female	brain
15	chr12:12712600-12716000	Active TSS	Thymus	Thymus
16	chr12:12712600-12716000	Active TSS	K562	blood
17	chr12:12712600-12716200	Active TSS	NHLF	lung
18	chr12:12712800-12714600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:12712800-12716000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:12712800-12716000	Active TSS	Brain Anterior Caudate	brain
21	chr12:12712800-12716000	Active TSS	Fetal Stomach	stomach
22	chr12:12712800-12716200	Active TSS	Brain Cingulate Gyrus	brain
23	chr12:12712800-12716400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:12712800-12716400	Active TSS	Fetal Muscle Trunk	muscle
25	chr12:12712800-12716400	Active TSS	Right Atrium	heart
26	chr12:12712800-12716800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:12713000-12716000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:12713000-12716000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:12713000-12716000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:12713000-12716000	Active TSS	Fetal Muscle Leg	muscle
31	chr12:12713000-12716000	Active TSS	Stomach Smooth Muscle	stomach
32	chr12:12713000-12716200	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:12713000-12716200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:12713000-12716200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:12713200-12714600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:12713200-12716000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:12713200-12716200	Active TSS	Brain Hippocampus Middle	brain
38	chr12:12713200-12716400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr12:12713200-12716600	Active TSS	Brain Angular Gyrus	brain
40	chr12:12713400-12714600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr12:12713400-12714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:12713400-12716000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:12713400-12716400	Active TSS	Aorta	Aorta
44	chr12:12713400-12716400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:12713400-12716400	Active TSS	Psoas Muscle	Psoas
46	chr12:12713400-12716400	Active TSS	Right Ventricle	heart
47	chr12:12713600-12714600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:12713600-12714600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:12713600-12714600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:12713600-12714600	Active TSS	Fetal Heart	heart

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