Variant report

Variant	rs368017356
Chromosome Location	chr12:12714646-12714647
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	CTCF	chr12:12714620-12714770	GM12874	blood:	n/a	n/a
2	TBP	chr12:12713627-12714716	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:12713681-12714935	HepG2	liver:	n/a	n/a
4	SMC3	chr12:12713758-12714720	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:12714372-12715353	K562	blood:	n/a	n/a
6	JUND	chr12:12714010-12716138	K562	blood:	n/a	chr12:12715384-12715393 chr12:12715493-12715502
7	POLR2A	chr12:12713706-12714961	GM12878	blood:	n/a	n/a
8	BCLAF1	chr12:12713612-12714768	GM12878	blood:	n/a	chr12:12714732-12714745 chr12:12714735-12714748 chr12:12713831-12713840
9	POLR2A	chr12:12713503-12716782	HepG2	liver:	n/a	n/a
10	CTCF	chr12:12714600-12714750	AG04449	skin:	n/a	n/a
11	CTCF	chr12:12714599-12714859	GM12892	blood:	n/a	n/a
12	ZBTB7A	chr12:12714188-12716298	ECC-1	luminal epithelium:	n/a	chr12:12715455-12715469 chr12:12714468-12714476 chr12:12715115-12715123
13	POU2F2	chr12:12714357-12714878	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:12713801-12715363	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr12:12714603-12714831	GM19239	blood:	n/a	n/a
16	CTCF	chr12:12714620-12714770	GM12875	blood:	n/a	n/a
17	RCOR1	chr12:12714603-12714653	GM12878	blood:	n/a	n/a
18	RFX5	chr12:12714539-12714773	HepG2	liver:	n/a	n/a
19	TAF1	chr12:12714420-12715072	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:12714004-12714771	H1-hESC	embryonic stem cell:	n/a	chr12:12714128-12714139
21	CEBPB	chr12:12713952-12714822	IMR90	lung:	n/a	chr12:12714128-12714139
22	SMC3	chr12:12713628-12714678	GM12878	blood:	n/a	n/a
23	MAZ	chr12:12713940-12716143	K562	blood:	n/a	chr12:12714863-12714872 chr12:12714847-12714857
24	POU2F2	chr12:12714449-12714894	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:12713986-12716119	HUVEC	blood vessel:	n/a	n/a
26	REST	chr12:12714364-12714784	HepG2	liver:	n/a	chr12:12714541-12714554
27	BHLHE40	chr12:12714066-12714708	K562	blood:	n/a	n/a
28	CTCF	chr12:12714520-12714670	HRPEpiC	eye:	n/a	n/a
29	CEBPB	chr12:12713894-12714807	A549	lung:	n/a	chr12:12714128-12714139
30	ZNF143	chr12:12714534-12714673	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr12:12713817-12714782	GM12878	blood:	n/a	n/a
32	TCF12	chr12:12714480-12714698	GM12878	blood:	n/a	chr12:12714518-12714525
33	EP300	chr12:12713682-12714659	GM12878	blood:	n/a	chr12:12714007-12714021 chr12:12714126-12714140 chr12:12713910-12713924 chr12:12713901-12713915
34	PML	chr12:12713634-12714946	GM12878	blood:	n/a	n/a
35	CHD1	chr12:12711450-12716107	GM12878	blood:	n/a	n/a
36	CHD1	chr12:12713235-12714685	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMARCC2	chr12:12713739-12714796	Hela-S3	cervix:	n/a	n/a
38	POU2F2	chr12:12714408-12714939	GM12891	blood:	n/a	n/a
39	TAF1	chr12:12714464-12715159	HepG2	liver:	n/a	n/a
40	MAX	chr12:12714544-12714905	K562	blood:	n/a	chr12:12714863-12714872 chr12:12714847-12714857
41	CEBPB	chr12:12713877-12714903	ECC-1	luminal epithelium:	n/a	chr12:12714128-12714139
42	HEY1	chr12:12714466-12715046	K562	blood:	n/a	chr12:12714693-12714708 chr12:12714918-12714933 chr12:12714732-12714747
43	POLR2A	chr12:12713421-12715350	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:12714416-12714790	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:12713382-12716397	GM12878	blood:	n/a	n/a
46	RAD21	chr12:12714573-12714860	IMR90	lung:	n/a	n/a
47	TCF7L2	chr12:12714449-12715943	HCT-116	colon:	n/a	n/a
48	RUNX3	chr12:12713632-12714760	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:12713620-12716156	GM18505	blood:	n/a	n/a
50	ZBTB7A	chr12:12714614-12714969	K562	blood:	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	chr1:45769125..45769635-chr12:12714594..12715146,2	Hela-S3	cervix:
5	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
6	chr12:12714295..12715106-chr7:4814976..4815762,2	Hela-S3	cervix:
7	chr12:12712251..12716973-chr12:12867058..12873344,10	MCF-7	breast:
8	chr12:12714157..12716777-chr12:12764288..12766468,3	MCF-7	breast:
9	chr12:12672602..12674761-chr12:12714230..12715790,2	MCF-7	breast:
10	chr12:12712910..12717920-chr12:12867983..12871802,5	K562	blood:
11	chr12:12657878..12659784-chr12:12714344..12718404,3	K562	blood:
12	chr12:12712965..12715376-chr12:12848428..12850169,2	K562	blood:
13	chr12:12714451..12716184-chr12:12937424..12940263,2	MCF-7	breast:
14	chr12:12713075..12717194-chr12:12718362..12721939,6	K562	blood:
15	chr12:12603843..12606415-chr12:12711459..12714793,4	MCF-7	breast:
16	chr12:12713899..12715883-chr12:12875674..12879074,4	MCF-7	breast:
17	chr12:12711165..12717532-chr12:12865354..12880919,24	MCF-7	breast:
18	chr12:12713736..12716645-chr12:14925588..14929665,3	MCF-7	breast:
19	chr12:12502650..12504579-chr12:12713839..12715957,2	MCF-7	breast:
20	chr12:12713891..12716367-chr3:161087265..161090021,2	MCF-7	breast:
21	chr12:12713685..12716948-chr12:12760123..12768151,9	K562	blood:
22	chr12:12713534..12716816-chr12:12876902..12880504,5	K562	blood:
23	chr12:12713878..12715518-chr12:14922092..14923933,2	MCF-7	breast:
24	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
25	chr12:12507988..12510235-chr12:12714031..12716523,2	MCF-7	breast:
26	chr12:12714508..12716169-chr12:12878232..12880566,3	K562	blood:

Variant related genes	Relation type
DUSP16	TF binding region
ENSG00000255670	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000271370	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000165714	Chromatin interaction
ENSG00000246705	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000240424	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000183150	Chromatin interaction
ENSG00000205791	Chromatin interaction
ENSG00000242802	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000197837	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	chr12:12712800-12716000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:12712800-12716000	Active TSS	Brain Anterior Caudate	brain
20	chr12:12712800-12716000	Active TSS	Fetal Stomach	stomach
21	chr12:12712800-12716200	Active TSS	Brain Cingulate Gyrus	brain
22	chr12:12712800-12716400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:12712800-12716400	Active TSS	Fetal Muscle Trunk	muscle
24	chr12:12712800-12716400	Active TSS	Right Atrium	heart
25	chr12:12712800-12716800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:12713000-12716000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:12713000-12716000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:12713000-12716000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:12713000-12716000	Active TSS	Fetal Muscle Leg	muscle
30	chr12:12713000-12716000	Active TSS	Stomach Smooth Muscle	stomach
31	chr12:12713000-12716200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:12713000-12716200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:12713000-12716200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:12713200-12716000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:12713200-12716200	Active TSS	Brain Hippocampus Middle	brain
36	chr12:12713200-12716400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:12713200-12716600	Active TSS	Brain Angular Gyrus	brain
38	chr12:12713400-12714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:12713400-12716000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:12713400-12716400	Active TSS	Aorta	Aorta
41	chr12:12713400-12716400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr12:12713400-12716400	Active TSS	Psoas Muscle	Psoas
43	chr12:12713400-12716400	Active TSS	Right Ventricle	heart
44	chr12:12713600-12714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:12713600-12715000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr12:12713600-12715400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr12:12713600-12716000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:12713600-12716000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:12713600-12716000	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:12713600-12716000	Active TSS	Placenta	Placenta

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