Variant report

Variant	rs574983765
Chromosome Location	chr12:120906893-120906894
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	MYC	chr12:120906877-120908167	NB4	blood:	n/a	n/a
2	POLR2A	chr12:120906645-120906967	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:120905975-120907098	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr12:120906309-120908074	K562	blood:	n/a	n/a
5	HCFC1	chr12:120906158-120908229	Hela-S3	cervix:	n/a	n/a
6	WRNIP1	chr12:120906150-120906937	GM12878	blood:	n/a	n/a
7	MAX	chr12:120906106-120908533	K562	blood:	n/a	chr12:120906131-120906140
8	POLR2A	chr12:120906792-120907005	ProgFib	skin:	n/a	n/a
9	MXI1	chr12:120905869-120908464	SK-N-SH	brain:	n/a	n/a
10	CTBP2	chr12:120906841-120908039	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:120906789-120907851	Hela-S3	cervix:	n/a	n/a
12	UBTF	chr12:120906149-120907071	K562	blood:	n/a	n/a
13	ZBTB7A	chr12:120906572-120908058	ECC-1	luminal epithelium:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
14	ZBTB7A	chr12:120906550-120908014	ECC-1	luminal epithelium:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
15	RCOR1	chr12:120906791-120906961	HepG2	liver:	n/a	n/a
16	ZBTB7A	chr12:120906705-120907364	K562	blood:	n/a	chr12:120907088-120907097
17	GABPA	chr12:120906710-120907150	K562	blood:	n/a	n/a
18	POLR2A	chr12:120906760-120906937	MCF-7	breast:	n/a	n/a
19	POLR2A	chr12:120906115-120908400	K562	blood:	n/a	n/a
20	CHD2	chr12:120906720-120907887	GM12878	blood:	n/a	chr12:120906720-120906730
21	POLR2A	chr12:120906847-120907903	GM19193	blood:	n/a	n/a
22	MXI1	chr12:120905903-120908370	IMR90	lung:	n/a	n/a
23	POLR2A	chr12:120906535-120908189	H1-neurons	neurons:	n/a	n/a
24	MAX	chr12:120906538-120908354	ECC-1	luminal epithelium:	n/a	n/a
25	PML	chr12:120906746-120907120	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:120906848-120906907	MCF-7	breast:	n/a	n/a
27	SIN3A	chr12:120906076-120908190	H1-hESC	embryonic stem cell:	n/a	chr12:120906893-120906906 chr12:120907505-120907516
28	TCF12	chr12:120906753-120907939	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr12:120906780-120906930	NHEK	skin:	n/a	n/a
30	ELF1	chr12:120906839-120907233	K562	blood:	n/a	chr12:120906936-120906948
31	CHD1	chr12:120906868-120907741	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:120906105-120908566	K562	blood:	n/a	n/a
33	SPI1	chr12:120906097-120907043	GM12878	blood:	n/a	chr12:120906215-120906228 chr12:120907014-120907027 chr12:120906634-120906643
34	REST	chr12:120906176-120908333	H1-neurons	neurons:	n/a	chr12:120907866-120907879 chr12:120906526-120906533 chr12:120906893-120906906
35	POLR2A	chr12:120906687-120907994	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:120906693-120907961	H1-neurons	neurons:	n/a	n/a
37	MAX	chr12:120906617-120908314	MCF-7	breast:	n/a	n/a
38	ZBTB7A	chr12:120906584-120908263	K562	blood:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
39	POLR2A	chr12:120906063-120908065	GM12892	blood:	n/a	n/a
40	MAZ	chr12:120906107-120908303	K562	blood:	n/a	chr12:120906131-120906140
41	POLR2A	chr12:120906196-120907114	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr12:120906724-120908091	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr12:120906741-120908147	K562	blood:	n/a	n/a
44	POLR2A	chr12:120906749-120907986	GM12892	blood:	n/a	n/a
45	CHD2	chr12:120906704-120907986	K562	blood:	n/a	chr12:120906720-120906730
46	SPI1	chr12:120906871-120907107	GM12891	blood:	n/a	chr12:120907014-120907027
47	ELF1	chr12:120906862-120907842	MCF-7	breast:	n/a	chr12:120907611-120907623 chr12:120906936-120906948
48	SPI1	chr12:120906882-120907090	K562	blood:	n/a	chr12:120907014-120907027
49	MAX	chr12:120906076-120908273	NB4	blood:	n/a	chr12:120906131-120906140
50	RUNX3	chr12:120905963-120906897	GM12878	blood:	n/a	chr12:120906473-120906488 chr12:120906148-120906157 chr12:120906148-120906157

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	chr12:120728388..120731475-chr12:120905367..120907269,3	K562	blood:
16	chr12:120906583..120908236-chr12:120972144..120973710,2	K562	blood:
17	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
18	chr12:120905819..120908222-chr12:121018300..121020103,2	MCF-7	breast:
19	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
20	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
21	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
22	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
23	chr12:120906483..120907115-chr15:41624018..41625002,2	Hela-S3	cervix:
24	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
25	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
26	chr12:120905412..120907184-chr12:120925601..120927838,2	K562	blood:
27	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
28	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:

Variant related genes	Relation type
SRSF9	TF binding region
DYNLL1	TF binding region
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000104147	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	chr12:120905800-120907000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:120905800-120907800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:120905800-120907800	Active TSS	HMEC	breast
6	chr12:120905800-120907800	Active TSS	NHEK	skin
7	chr12:120905800-120908000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:120905800-120908000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:120905800-120908000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120905800-120908000	Active TSS	Brain Angular Gyrus	brain
11	chr12:120905800-120908000	Active TSS	Pancreas	Pancrea
12	chr12:120905800-120908000	Active TSS	GM12878-XiMat	blood
13	chr12:120905800-120908000	Active TSS	HSMMtube	muscle
14	chr12:120905800-120908400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:120905800-120908400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:120905800-120908400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:120905800-120908400	Active TSS	Psoas Muscle	Psoas
18	chr12:120905800-120908600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:120905800-120908600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:120905800-120908600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:120906000-120907000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:120906000-120907000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:120906000-120907000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:120906000-120907800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:120906000-120907800	Active TSS	HepG2	liver
26	chr12:120906000-120908000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:120906000-120908000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:120906000-120908000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:120906000-120908000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:120906000-120908000	Active TSS	Esophagus	oesophagus
31	chr12:120906000-120908000	Active TSS	NHLF	lung
32	chr12:120906000-120908200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr12:120906000-120908200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:120906000-120908200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:120906000-120908200	Active TSS	Ovary	ovary
36	chr12:120906000-120908200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr12:120906000-120908200	Active TSS	NHDF-Ad	bronchial
38	chr12:120906000-120908400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:120906000-120908400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:120906000-120908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:120906200-120907000	Flanking Active TSS	Colonic Mucosa	Colon
42	chr12:120906200-120907600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:120906200-120907600	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:120906200-120907800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:120906200-120907800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:120906200-120907800	Active TSS	Fetal Intestine Small	intestine
47	chr12:120906200-120907800	Active TSS	Stomach Mucosa	stomach
48	chr12:120906200-120907800	Active TSS	A549	lung
49	chr12:120906200-120908000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:120906200-120908000	Active TSS	Duodenum Smooth Muscle	Duodenum

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