Variant report

Variant	rs375493553
Chromosome Location	chr12:122985344-122985345
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	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	chr12:122985340-122985490	GM12867	blood:	n/a	chr12:122985427-122985436
4	NFIC	chr12:122985189-122985780	HepG2	liver:	n/a	n/a
5	PML	chr12:122985168-122985860	GM12878	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	SMARCB1	chr12:122984681-122985718	Hela-S3	cervix:	n/a	chr12:122985561-122985570
10	YY1	chr12:122985131-122985748	GM12891	blood:	n/a	chr12:122985379-122985391
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	BRCA1	chr12:122984968-122985348	GM12878	blood:	n/a	n/a
16	YY1	chr12:122985040-122985786	HCT-116	colon:	n/a	chr12:122985379-122985391
17	POLR2A	chr12:122984780-122986024	MCF-7	breast:	n/a	n/a
18	RELA	chr12:122985199-122986211	GM10847	blood:	n/a	n/a
19	POLR2A	chr12:122985276-122985781	HepG2	liver:	n/a	n/a
20	POU2F2	chr12:122985153-122985968	GM12891	blood:	n/a	n/a
21	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
22	CTCF	chr12:122985320-122985470	HPAF	blood vessel:	n/a	chr12:122985427-122985436
23	REST	chr12:122985121-122985837	PFSK-1	brain:	n/a	n/a
24	CREB1	chr12:122984511-122986005	HepG2	liver:	n/a	n/a
25	TAF1	chr12:122985163-122985767	MCF-7	breast:	n/a	n/a
26	POLR2A	chr12:122984599-122986132	GM12891	blood:	n/a	n/a
27	SIN3A	chr12:122985156-122986044	GM12878	blood:	n/a	n/a
28	SRF	chr12:122985333-122985755	K562	blood:	n/a	n/a
29	MAX	chr12:122985047-122986141	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:122985076-122986339	GM12878	blood:	n/a	n/a
31	PAX5	chr12:122984902-122985723	GM12892	blood:	n/a	n/a
32	MAZ	chr12:122985338-122985689	HepG2	liver:	n/a	n/a
33	ATF2	chr12:122985173-122986259	GM12878	blood:	n/a	n/a
34	STAT5A	chr12:122985205-122985832	K562	blood:	n/a	n/a
35	RELA	chr12:122985137-122986214	GM15510	blood:	n/a	n/a
36	TCF12	chr12:122984340-122986308	A549	lung:	n/a	n/a
37	BCLAF1	chr12:122985149-122986166	GM12878	blood:	n/a	chr12:122985573-122985586
38	TEAD4	chr12:122985174-122985856	K562	blood:	n/a	n/a
39	SP1	chr12:122985268-122985896	GM12878	blood:	n/a	chr12:122985538-122985547 chr12:122985539-122985548 chr12:122985539-122985548 chr12:122985537-122985549 chr12:122985537-122985549
40	TAF1	chr12:122985158-122985782	GM12891	blood:	n/a	n/a
41	REST	chr12:122985082-122985663	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr12:122984650-122986223	Raji	blood:	n/a	n/a
43	POLR2A	chr12:122984648-122985936	GM18526	blood:	n/a	n/a
44	POLR2A	chr12:122984626-122986106	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:122984914-122985828	A549	lung:	n/a	n/a
46	REST	chr12:122985217-122985599	SK-N-SH	brain:	n/a	n/a
47	ATF3	chr12:122985327-122986053	GM12878	blood:	n/a	chr12:122985538-122985547
48	REST	chr12:122984589-122985988	HL-60	blood:	n/a	chr12:122984608-122984628 chr12:122984608-122984628
49	GTF2F1	chr12:122984609-122985840	Hela-S3	cervix:	n/a	n/a
50	YY1	chr12:122984658-122985949	GM12892	blood:	n/a	chr12:122985379-122985391 chr12:122985003-122985017

No.	Distal block	Cell Line	Cell type
1	chr12:122967462..122970113-chr12:122983945..122986979,3	K562	blood:
2	chr12:122241026..122243237-chr12:122983167..122985698,2	K562	blood:
3	chr1:113161754..113162459-chr12:122985188..122985790,2	Hela-S3	cervix:
4	chr11:47270344..47270968-chr12:122985118..122985954,2	Hela-S3	cervix:
5	chr12:122985151..122985897-chr9:139743066..139743611,2	Hela-S3	cervix:
6	chr1:45186994..45187722-chr12:122985022..122985930,2	Hela-S3	cervix:
7	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
8	chr1:149858284..149858896-chr12:122985020..122985703,2	NB4	blood:
9	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
10	chr12:122985118..122985687-chr12:123011078..123011604,2	Hela-S3	cervix:
11	chr12:122985025..122985529-chr20:58514919..58515624,2	Hela-S3	cervix:
12	chr12:122983924..122985565-chr12:123450706..123452240,2	MCF-7	breast:
13	chr12:122984961..122985628-chr20:49347731..49348635,2	Hela-S3	cervix:
14	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
15	chr12:122974949..122980917-chr12:122982980..122986294,6	MCF-7	breast:
16	chr12:122749733..122752495-chr12:122984163..122985921,2	MCF-7	breast:
17	chr12:122985085..122985747-chr19:19516157..19516988,2	Hela-S3	cervix:
18	chr12:122984954..122985618-chr14:50087101..50087861,2	Hela-S3	cervix:
19	chr12:122884193..122884707-chr12:122985109..122985919,2	K562	blood:
20	chr12:122237927..122238753-chr12:122985007..122985749,2	Hela-S3	cervix:
21	chr12:122985061..122985965-chr7:73245079..73245829,2	Hela-S3	cervix:
22	chr12:122984954..122985580-chr5:1345022..1345841,2	Hela-S3	cervix:
23	chr12:122985080..122985663-chr15:63796609..63797111,2	Hela-S3	cervix:
24	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
25	chr10:35415246..35416106-chr12:122984953..122985731,2	Hela-S3	cervix:
26	chr12:122984486..122985473-chr19:17447840..17448760,2	Hela-S3	cervix:
27	chr12:122884122..122887585-chr12:122984218..122986985,3	MCF-7	breast:
28	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:
29	chr12:122984746..122985602-chr16:74734433..74735427,2	Hela-S3	cervix:
30	chr12:122984895..122985734-chr5:38845420..38846018,2	Hela-S3	cervix:
31	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000184260	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000145623	Chromatin interaction
ENSG00000189143	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000249740	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000049656	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000196227	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000168282	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000095794	Chromatin interaction
ENSG00000165502	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000252192	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000140455	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000130299	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000132825	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000230534	Chromatin interaction
ENSG00000139719	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	chr12:122982200-122985600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:122982200-122985800	Active TSS	GM12878-XiMat	blood
3	chr12:122982600-122985800	Active TSS	K562	blood
4	chr12:122982800-122985800	Active TSS	HSMMtube	muscle
5	chr12:122982800-122986000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:122983000-122985600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:122983000-122985800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:122983400-122985600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:122983400-122985800	Active TSS	Psoas Muscle	Psoas
10	chr12:122983600-122985600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:122983600-122985800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:122983600-122985800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:122983600-122985800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:122983600-122985800	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:122983600-122985800	Active TSS	A549	lung
16	chr12:122983600-122985800	Active TSS	NH-A	brain
17	chr12:122983600-122986000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:122983600-122986000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:122983600-122986000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:122983600-122986000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:122983600-122986000	Active TSS	Brain Germinal Matrix	brain
22	chr12:122983600-122986000	Active TSS	HSMM	muscle
23	chr12:122983600-122986200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:122983800-122985600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:122983800-122985800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:122983800-122985800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:122983800-122985800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:122983800-122985800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:122983800-122985800	Active TSS	Hela-S3	cervix
30	chr12:122983800-122985800	Active TSS	NHDF-Ad	bronchial
31	chr12:122983800-122986000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:122983800-122986000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:122983800-122986000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:122983800-122986000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:122983800-122986000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:122983800-122986000	Active TSS	Brain Cingulate Gyrus	brain
37	chr12:122983800-122986000	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:122983800-122986000	Active TSS	HMEC	breast
39	chr12:122983800-122986200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:122983800-122986200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:122983800-122986200	Active TSS	Fetal Lung	lung
42	chr12:122983800-122986200	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:122983800-122986200	Active TSS	Osteobl	bone
44	chr12:122984000-122985600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:122984000-122985600	Active TSS	Duodenum Mucosa	Duodenum
46	chr12:122984000-122985800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:122984000-122985800	Active TSS	Colonic Mucosa	Colon
48	chr12:122984000-122985800	Active TSS	Fetal Intestine Small	intestine
49	chr12:122984000-122985800	Active TSS	NHEK	skin
50	chr12:122984000-122986000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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