Variant report

Variant	rs148516653
Chromosome Location	chr12:122985886-122985887
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	REST	chr12:122984499-122986098	A549	lung:	n/a	chr12:122984608-122984628 chr12:122984608-122984628
2	CREB1	chr12:122984503-122985907	K562	blood:	n/a	n/a
3	CTCF	chr12:122985392-122986078	K562	blood:	n/a	chr12:122985427-122985436
4	CTCF	chr12:122985820-122985970	GM12868	blood:	n/a	n/a
5	CTCF	chr12:122985840-122985990	GM12867	blood:	n/a	n/a
6	MAX	chr12:122985211-122985904	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:122984627-122986286	GM19099	blood:	n/a	n/a
8	POLR2A	chr12:122984655-122986115	GM18505	blood:	n/a	n/a
9	CTCF	chr12:122985800-122985950	AG04449	skin:	n/a	n/a
10	CTCF	chr12:122985780-122985930	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:122984622-122985944	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:122984613-122986002	HCT-116	colon:	n/a	n/a
13	SP1	chr12:122985137-122985997	A549	lung:	n/a	chr12:122985538-122985547 chr12:122985539-122985548 chr12:122985539-122985548 chr12:122985537-122985549 chr12:122985537-122985549
14	POLR2A	chr12:122985050-122986645	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr12:122984780-122986024	MCF-7	breast:	n/a	n/a
16	RELA	chr12:122985199-122986211	GM10847	blood:	n/a	n/a
17	POU2F2	chr12:122985153-122985968	GM12891	blood:	n/a	n/a
18	ZNF143	chr12:122985257-122986028	H1-hESC	embryonic stem cell:	n/a	chr12:122985563-122985572 chr12:122985617-122985635 chr12:122985561-122985570 chr12:122985667-122985685 chr12:122985612-122985631 chr12:122985561-122985579 chr12:122985663-122985678
19	CTCF	chr12:122985880-122986030	GM12875	blood:	n/a	n/a
20	CREB1	chr12:122984511-122986005	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:122984599-122986132	GM12891	blood:	n/a	n/a
22	SIN3A	chr12:122985156-122986044	GM12878	blood:	n/a	n/a
23	CTCF	chr12:122985880-122986030	GM12865	blood:	n/a	n/a
24	CTCF	chr12:122985815-122986041	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:122985820-122985970	HepG2	liver:	n/a	n/a
26	EP300	chr12:122985373-122986502	GM12878	blood:	n/a	chr12:122986146-122986160 chr12:122986174-122986188 chr12:122986161-122986171
27	MAX	chr12:122985047-122986141	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:122985076-122986339	GM12878	blood:	n/a	n/a
29	ATF2	chr12:122985173-122986259	GM12878	blood:	n/a	n/a
30	TCF12	chr12:122985604-122985906	H1-hESC	embryonic stem cell:	n/a	n/a
31	RELA	chr12:122985137-122986214	GM15510	blood:	n/a	n/a
32	TCF12	chr12:122984340-122986308	A549	lung:	n/a	n/a
33	USF1	chr12:122985433-122985903	K562	blood:	n/a	n/a
34	BCLAF1	chr12:122985149-122986166	GM12878	blood:	n/a	chr12:122985573-122985586
35	SP1	chr12:122985268-122985896	GM12878	blood:	n/a	chr12:122985538-122985547 chr12:122985539-122985548 chr12:122985539-122985548 chr12:122985537-122985549 chr12:122985537-122985549
36	CTCF	chr12:122985869-122986038	MCF-7	breast:	n/a	n/a
37	USF1	chr12:122985480-122985961	A549	lung:	n/a	n/a
38	POLR2A	chr12:122984650-122986223	Raji	blood:	n/a	n/a
39	POLR2A	chr12:122984648-122985936	GM18526	blood:	n/a	n/a
40	POLR2A	chr12:122984626-122986106	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF3	chr12:122985327-122986053	GM12878	blood:	n/a	chr12:122985538-122985547
42	REST	chr12:122984589-122985988	HL-60	blood:	n/a	chr12:122984608-122984628 chr12:122984608-122984628
43	YY1	chr12:122984658-122985949	GM12892	blood:	n/a	chr12:122985379-122985391 chr12:122985003-122985017
44	POLR2A	chr12:122984556-122985950	GM12891	blood:	n/a	n/a
45	POLR2A	chr12:122984581-122986609	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr12:122985824-122986047	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:122984670-122986072	GM19193	blood:	n/a	n/a
48	TBP	chr12:122985229-122985903	GM12878	blood:	n/a	n/a
49	NR2F2	chr12:122984401-122986335	K562	blood:	n/a	n/a
50	HEY1	chr12:122984633-122985997	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr11:47270344..47270968-chr12:122985118..122985954,2	Hela-S3	cervix:
3	chr12:122985151..122985897-chr9:139743066..139743611,2	Hela-S3	cervix:
4	chr1:45186994..45187722-chr12:122985022..122985930,2	Hela-S3	cervix:
5	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
6	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
7	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
8	chr12:122974949..122980917-chr12:122982980..122986294,6	MCF-7	breast:
9	chr12:122749733..122752495-chr12:122984163..122985921,2	MCF-7	breast:
10	chr12:122884193..122884707-chr12:122985109..122985919,2	K562	blood:
11	chr12:122882610..122885113-chr12:122985473..122987082,2	K562	blood:
12	chr12:122882713..122885113-chr12:122985565..122987437,3	K562	blood:
13	chr12:122985061..122985965-chr7:73245079..73245829,2	Hela-S3	cervix:
14	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
15	chr12:122884122..122887585-chr12:122984218..122986985,3	MCF-7	breast:
16	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:
17	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000189143	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000252192	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000033030	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 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	chr12:122982800-122986000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:122983600-122986000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr12:122983600-122986000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:122983600-122986000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:122983600-122986000	Active TSS	Muscle Satellite Cultured Cells	--
6	chr12:122983600-122986000	Active TSS	Brain Germinal Matrix	brain
7	chr12:122983600-122986000	Active TSS	HSMM	muscle
8	chr12:122983600-122986200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:122983800-122986000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:122983800-122986000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr12:122983800-122986000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:122983800-122986000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:122983800-122986000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:122983800-122986000	Active TSS	Brain Cingulate Gyrus	brain
15	chr12:122983800-122986000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:122983800-122986000	Active TSS	HMEC	breast
17	chr12:122983800-122986200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:122983800-122986200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:122983800-122986200	Active TSS	Fetal Lung	lung
20	chr12:122983800-122986200	Active TSS	Rectal Smooth Muscle	rectum
21	chr12:122983800-122986200	Active TSS	Osteobl	bone
22	chr12:122984000-122986000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:122984000-122986000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:122984000-122986000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:122984000-122986000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:122984000-122986000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:122984000-122986000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:122984000-122986000	Active TSS	Right Ventricle	heart
29	chr12:122984000-122986000	Active TSS	NHLF	lung
30	chr12:122984000-122986200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:122984200-122986000	Active TSS	Brain Angular Gyrus	brain
32	chr12:122984200-122986000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr12:122984200-122986200	Active TSS	Colon Smooth Muscle	Colon
34	chr12:122984200-122986200	Active TSS	Fetal Kidney	kidney
35	chr12:122984200-122986400	Active TSS	Thymus	Thymus
36	chr12:122984200-122986600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr12:122984600-122986000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr12:122984800-122986200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:122984800-122986200	Active TSS	Spleen	Spleen
40	chr12:122985400-122986000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:122985400-122988400	Weak transcription	Small Intestine	intestine
42	chr12:122985600-122986000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:122985600-122986000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:122985600-122986000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:122985600-122986000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:122985600-122986000	Flanking Active TSS	Liver	Liver
47	chr12:122985600-122986000	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr12:122985600-122986000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr12:122985600-122986000	Flanking Active TSS	Placenta	Placenta
50	chr12:122985600-122986000	Flanking Active TSS	Fetal Stomach	stomach

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