Variant report

Variant	rs76816053
Chromosome Location	chr12:120906653-120906654
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	POLR2A	chr12:120906645-120906967	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:120905975-120907098	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr12:120906309-120908074	K562	blood:	n/a	n/a
4	HCFC1	chr12:120906158-120908229	Hela-S3	cervix:	n/a	n/a
5	WRNIP1	chr12:120906150-120906937	GM12878	blood:	n/a	n/a
6	MAX	chr12:120906106-120908533	K562	blood:	n/a	chr12:120906131-120906140
7	CTCF	chr12:120906600-120906750	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr12:120906055-120906730	K562	blood:	n/a	n/a
9	MXI1	chr12:120905869-120908464	SK-N-SH	brain:	n/a	n/a
10	SIN3AK20	chr12:120906024-120906693	SK-N-SH	brain:	n/a	n/a
11	UBTF	chr12:120906149-120907071	K562	blood:	n/a	n/a
12	ZBTB7A	chr12:120906572-120908058	ECC-1	luminal epithelium:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
13	ZBTB7A	chr12:120906550-120908014	ECC-1	luminal epithelium:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
14	MXI1	chr12:120906352-120906759	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:120906115-120908400	K562	blood:	n/a	n/a
16	HEY1	chr12:120906058-120906891	K562	blood:	n/a	chr12:120906867-120906882 chr12:120906870-120906885
17	SPI1	chr12:120906426-120906767	GM12878	blood:	n/a	chr12:120906634-120906643
18	MAZ	chr12:120906571-120906766	HepG2	liver:	n/a	n/a
19	MXI1	chr12:120905903-120908370	IMR90	lung:	n/a	n/a
20	POLR2A	chr12:120906535-120908189	H1-neurons	neurons:	n/a	n/a
21	RUNX3	chr12:120905952-120906755	GM12878	blood:	n/a	chr12:120906473-120906488 chr12:120906148-120906157 chr12:120906148-120906157
22	MAX	chr12:120906538-120908354	ECC-1	luminal epithelium:	n/a	n/a
23	SPI1	chr12:120906496-120906746	GM12891	blood:	n/a	chr12:120906634-120906643
24	SIN3A	chr12:120906076-120908190	H1-hESC	embryonic stem cell:	n/a	chr12:120906893-120906906 chr12:120907505-120907516
25	E2F4	chr12:120906600-120906766	MCF10A-Er-Src	breast:	n/a	n/a
26	SP1	chr12:120906212-120906752	H1-hESC	embryonic stem cell:	n/a	chr12:120906720-120906729 chr12:120906718-120906730 chr12:120906720-120906729 chr12:120906719-120906728 chr12:120906718-120906730
27	POLR2A	chr12:120906105-120908566	K562	blood:	n/a	n/a
28	SPI1	chr12:120906097-120907043	GM12878	blood:	n/a	chr12:120906215-120906228 chr12:120907014-120907027 chr12:120906634-120906643
29	REST	chr12:120906176-120908333	H1-neurons	neurons:	n/a	chr12:120907866-120907879 chr12:120906526-120906533 chr12:120906893-120906906
30	NR2F2	chr12:120906043-120906772	K562	blood:	n/a	n/a
31	MAX	chr12:120906617-120908314	MCF-7	breast:	n/a	n/a
32	ZBTB7A	chr12:120906584-120908263	K562	blood:	n/a	chr12:120907620-120907629 chr12:120907088-120907097
33	POLR2A	chr12:120906063-120908065	GM12892	blood:	n/a	n/a
34	MAZ	chr12:120906107-120908303	K562	blood:	n/a	chr12:120906131-120906140
35	POLR2A	chr12:120906196-120907114	ECC-1	luminal epithelium:	n/a	n/a
36	PML	chr12:120906106-120906759	K562	blood:	n/a	n/a
37	POLR2A	chr12:120906116-120906756	MCF-7	breast:	n/a	n/a
38	SP1	chr12:120906228-120906669	K562	blood:	n/a	n/a
39	POLR2A	chr12:120906343-120906728	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr12:120906076-120908273	NB4	blood:	n/a	chr12:120906131-120906140
41	ZNF263	chr12:120905973-120906764	HEK293-T-REx	kidney:	n/a	n/a
42	RUNX3	chr12:120905963-120906897	GM12878	blood:	n/a	chr12:120906473-120906488 chr12:120906148-120906157 chr12:120906148-120906157
43	SP1	chr12:120906064-120906764	A549	lung:	n/a	chr12:120906720-120906729 chr12:120906718-120906730 chr12:120906720-120906729 chr12:120906719-120906728 chr12:120906718-120906730
44	SP1	chr12:120906182-120906704	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELF1	chr12:120906021-120906751	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:120906068-120908207	SK-N-SH	brain:	n/a	chr12:120907622-120907632 chr12:120907625-120907634 chr12:120907621-120907634 chr12:120907620-120907636 chr12:120907619-120907637 chr12:120907872-120907885
47	MAX	chr12:120906117-120908377	A549	lung:	n/a	chr12:120906131-120906140
48	SIN3AK20	chr12:120906561-120907077	PANC-1	pancreas:	n/a	n/a
49	MAZ	chr12:120906041-120908440	IMR90	lung:	n/a	chr12:120906131-120906140
50	TCF12	chr12:120905991-120908286	A549	lung:	n/a	n/a

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	chr12:120904864..120906819-chr12:120975505..120978250,2	K562	blood:
7	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
8	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
9	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:
10	chr12:120832590..120834451-chr12:120905005..120906685,2	MCF-7	breast:
11	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
12	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
13	chr12:120875890..120877701-chr12:120905742..120908323,3	MCF-7	breast:
14	chr12:120794442..120794968-chr12:120906277..120906800,2	K562	blood:
15	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
16	chr12:120877548..120880154-chr12:120905733..120907532,2	MCF-7	breast:
17	chr12:120728388..120731475-chr12:120905367..120907269,3	K562	blood:
18	chr12:120906583..120908236-chr12:120972144..120973710,2	K562	blood:
19	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
20	chr12:120905819..120908222-chr12:121018300..121020103,2	MCF-7	breast:
21	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
22	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
23	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
24	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
25	chr12:120906483..120907115-chr15:41624018..41625002,2	Hela-S3	cervix:
26	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
27	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
28	chr12:120905412..120907184-chr12:120925601..120927838,2	K562	blood:
29	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:

Variant related genes	Relation type
SRSF9	TF binding region
DYNLL1	TF binding region
ENSG00000111775	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000104147	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000200795	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	chr12:120905600-120906800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:120905600-120908400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:120905600-120908600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:120905800-120907000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:120905800-120907800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:120905800-120907800	Active TSS	HMEC	breast
9	chr12:120905800-120907800	Active TSS	NHEK	skin
10	chr12:120905800-120908000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr12:120905800-120908000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr12:120905800-120908000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:120905800-120908000	Active TSS	Brain Angular Gyrus	brain
14	chr12:120905800-120908000	Active TSS	Pancreas	Pancrea
15	chr12:120905800-120908000	Active TSS	GM12878-XiMat	blood
16	chr12:120905800-120908000	Active TSS	HSMMtube	muscle
17	chr12:120905800-120908400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:120905800-120908400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:120905800-120908400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr12:120905800-120908400	Active TSS	Psoas Muscle	Psoas
21	chr12:120905800-120908600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:120905800-120908600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:120905800-120908600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:120906000-120906800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:120906000-120906800	Flanking Active TSS	Placenta	Placenta
26	chr12:120906000-120906800	Active TSS	Right Atrium	heart
27	chr12:120906000-120906800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr12:120906000-120906800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr12:120906000-120907000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:120906000-120907000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:120906000-120907000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:120906000-120907800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr12:120906000-120907800	Active TSS	HepG2	liver
34	chr12:120906000-120908000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:120906000-120908000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:120906000-120908000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:120906000-120908000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:120906000-120908000	Active TSS	Esophagus	oesophagus
39	chr12:120906000-120908000	Active TSS	NHLF	lung
40	chr12:120906000-120908200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr12:120906000-120908200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:120906000-120908200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:120906000-120908200	Active TSS	Ovary	ovary
44	chr12:120906000-120908200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr12:120906000-120908200	Active TSS	NHDF-Ad	bronchial
46	chr12:120906000-120908400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:120906000-120908400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:120906000-120908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:120906200-120907000	Flanking Active TSS	Colonic Mucosa	Colon
50	chr12:120906200-120907600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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