Variant report

Variant	rs372524955
Chromosome Location	chr12:120907202-120907203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr12:120907138-120907923	GM12892	blood:	n/a	chr12:120907603-120907612
2	MYC	chr12:120906877-120908167	NB4	blood:	n/a	n/a
3	POLR2A	chr12:120907142-120907958	A549	lung:	n/a	n/a
4	E2F6	chr12:120907135-120907860	K562	blood:	n/a	chr12:120907603-120907612 chr12:120907617-120907627
5	CCNT2	chr12:120906309-120908074	K562	blood:	n/a	n/a
6	HCFC1	chr12:120906158-120908229	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:120907126-120908119	SK-N-MC	brain:	n/a	n/a
8	MAX	chr12:120906106-120908533	K562	blood:	n/a	chr12:120906131-120906140
9	POLR2A	chr12:120907199-120907869	A549	lung:	n/a	n/a
10	BACH1	chr12:120907110-120907883	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:120907135-120908107	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:120907161-120907763	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:120906924-120908008	GM12878	blood:	n/a	chr12:120906935-120906951 chr12:120907873-120907889 chr12:120907865-120907881
14	POLR2A	chr12:120907170-120907859	GM12892	blood:	n/a	n/a
15	MXI1	chr12:120905869-120908464	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:120907127-120907930	HUVEC	blood vessel:	n/a	n/a
17	E2F6	chr12:120907139-120908059	A549	lung:	n/a	chr12:120907603-120907612 chr12:120907617-120907627
18	CTBP2	chr12:120906841-120908039	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:120906789-120907851	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:120907001-120907916	GM12878	blood:	n/a	n/a
21	TAF1	chr12:120907082-120907975	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:120906969-120907904	NB4	blood:	n/a	n/a
23	MAZ	chr12:120907039-120908079	HepG2	liver:	n/a	n/a
24	ZBTB7A	chr12:120906572-120908058	ECC-1	luminal epithelium:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
25	ZBTB7A	chr12:120906550-120908014	ECC-1	luminal epithelium:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
26	POLR2A	chr12:120907046-120907926	GM12892	blood:	n/a	n/a
27	E2F6	chr12:120907030-120907827	H1-hESC	embryonic stem cell:	n/a	chr12:120907603-120907612 chr12:120907617-120907627
28	CTCF	chr12:120906903-120907211	K562	blood:	n/a	n/a
29	NRF1	chr12:120907185-120908267	SK-N-SH	brain:	n/a	chr12:120907587-120907598 chr12:120907602-120907613 chr12:120907602-120907613 chr12:120907599-120907613 chr12:120907602-120907616 chr12:120907604-120907613
30	ZBTB7A	chr12:120906705-120907364	K562	blood:	n/a	chr12:120907088-120907097
31	HCFC1	chr12:120906897-120908185	K562	blood:	n/a	n/a
32	YY1	chr12:120907178-120907817	ECC-1	luminal epithelium:	n/a	chr12:120907617-120907631
33	CHD2	chr12:120906906-120907957	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr12:120906919-120908072	GM12878	blood:	n/a	n/a
35	YY1	chr12:120907185-120908558	K562	blood:	n/a	chr12:120907617-120907631 chr12:120907871-120907882
36	POLR2A	chr12:120906115-120908400	K562	blood:	n/a	n/a
37	POLR2A	chr12:120907139-120907898	Raji	blood:	n/a	n/a
38	MAX	chr12:120907163-120907938	SK-N-SH	brain:	n/a	n/a
39	CHD2	chr12:120906720-120907887	GM12878	blood:	n/a	chr12:120906720-120906730
40	MYC	chr12:120907088-120907905	A549	lung:	n/a	n/a
41	POLR2A	chr12:120907150-120908026	U87	brain:	n/a	n/a
42	POLR2A	chr12:120907137-120907965	GM12891	blood:	n/a	n/a
43	POLR2A	chr12:120907131-120907877	A549	lung:	n/a	n/a
44	FOXP2	chr12:120907169-120907931	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr12:120906847-120907903	GM19193	blood:	n/a	n/a
46	MYC	chr12:120907072-120907290	K562	blood:	n/a	n/a
47	MXI1	chr12:120905903-120908370	IMR90	lung:	n/a	n/a
48	POLR2A	chr12:120907186-120907867	Gliobla	brain:	n/a	n/a
49	POLR2A	chr12:120906535-120908189	H1-neurons	neurons:	n/a	n/a
50	MAX	chr12:120906538-120908354	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120906126..120908752-chr12:120971938..120973464,2	MCF-7	breast:
2	chr12:120900995..120903574-chr12:120904583..120907524,5	MCF-7	breast:
3	chr12:120905582..120907293-chr12:121017585..121020465,2	K562	blood:
4	chr12:120881316..120885805-chr12:120906046..120909209,6	MCF-7	breast:
5	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
6	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
7	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
8	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:
9	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
10	chr12:120906866..120907962-chr12:120933888..120934984,3	MCF-7	breast:
11	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
12	chr12:120875890..120877701-chr12:120905742..120908323,3	MCF-7	breast:
13	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
14	chr12:120877548..120880154-chr12:120905733..120907532,2	MCF-7	breast:
15	chr12:120906986..120907695-chr3:93698981..93699682,2	Hela-S3	cervix:
16	chr12:120728388..120731475-chr12:120905367..120907269,3	K562	blood:
17	chr12:120906583..120908236-chr12:120972144..120973710,2	K562	blood:
18	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
19	chr12:120905819..120908222-chr12:121018300..121020103,2	MCF-7	breast:
20	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
21	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
22	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
23	chr12:120907008..120907963-chr19:47291529..47292300,2	NB4	blood:
24	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:
25	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
26	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
27	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
28	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
29	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:

No data

Variant related genes	Relation type
DYNLL1	TF binding region
SRSF9	TF binding region
ENSG00000169379	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000105281	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111780	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	esv3406081	chr12:120906094-120908942	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 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	chr12:120905600-120908400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:120905600-120908600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:120905800-120907800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:120905800-120907800	Active TSS	HMEC	breast
5	chr12:120905800-120907800	Active TSS	NHEK	skin
6	chr12:120905800-120908000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr12:120905800-120908000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:120905800-120908000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120905800-120908000	Active TSS	Brain Angular Gyrus	brain
10	chr12:120905800-120908000	Active TSS	Pancreas	Pancrea
11	chr12:120905800-120908000	Active TSS	GM12878-XiMat	blood
12	chr12:120905800-120908000	Active TSS	HSMMtube	muscle
13	chr12:120905800-120908400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:120905800-120908400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:120905800-120908400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:120905800-120908400	Active TSS	Psoas Muscle	Psoas
17	chr12:120905800-120908600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:120905800-120908600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:120905800-120908600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:120906000-120907800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:120906000-120907800	Active TSS	HepG2	liver
22	chr12:120906000-120908000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:120906000-120908000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:120906000-120908000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:120906000-120908000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:120906000-120908000	Active TSS	Esophagus	oesophagus
27	chr12:120906000-120908000	Active TSS	NHLF	lung
28	chr12:120906000-120908200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:120906000-120908200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:120906000-120908200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:120906000-120908200	Active TSS	Ovary	ovary
32	chr12:120906000-120908200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr12:120906000-120908200	Active TSS	NHDF-Ad	bronchial
34	chr12:120906000-120908400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:120906000-120908400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:120906000-120908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:120906200-120907600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:120906200-120907600	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr12:120906200-120907800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:120906200-120907800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:120906200-120907800	Active TSS	Fetal Intestine Small	intestine
42	chr12:120906200-120907800	Active TSS	Stomach Mucosa	stomach
43	chr12:120906200-120907800	Active TSS	A549	lung
44	chr12:120906200-120908000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:120906200-120908000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr12:120906200-120908000	Active TSS	Fetal Intestine Large	intestine
47	chr12:120906200-120908000	Active TSS	Lung	lung
48	chr12:120906200-120908000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:120906200-120908000	Active TSS	Small Intestine	intestine
50	chr12:120906200-120908000	Active TSS	HSMM	muscle

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