Variant report

Variant	rs149118726
Chromosome Location	chr12:120906136-120906137
allele	G/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	chr12:120905975-120907098	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr12:120906106-120908533	K562	blood:	n/a	chr12:120906131-120906140
3	MTA3	chr12:120905952-120906532	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:120905974-120906616	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr12:120906055-120906730	K562	blood:	n/a	n/a
6	SPI1	chr12:120905998-120906386	GM12878	blood:	n/a	chr12:120906215-120906228
7	ELF1	chr12:120906090-120906355	HepG2	liver:	n/a	n/a
8	MXI1	chr12:120905869-120908464	SK-N-SH	brain:	n/a	n/a
9	SIN3AK20	chr12:120906024-120906693	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:120905995-120906630	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:120906115-120908400	K562	blood:	n/a	n/a
12	IRF1	chr12:120906094-120906536	K562	blood:	n/a	chr12:120906215-120906228
13	HEY1	chr12:120906058-120906891	K562	blood:	n/a	chr12:120906867-120906882 chr12:120906870-120906885
14	TEAD4	chr12:120906070-120906646	K562	blood:	n/a	n/a
15	ELF1	chr12:120905967-120906602	K562	blood:	n/a	n/a
16	POLR2A	chr12:120906088-120906601	K562	blood:	n/a	n/a
17	MXI1	chr12:120905903-120908370	IMR90	lung:	n/a	n/a
18	RUNX3	chr12:120905952-120906755	GM12878	blood:	n/a	chr12:120906473-120906488 chr12:120906148-120906157 chr12:120906148-120906157
19	SPI1	chr12:120906101-120906301	GM12878	blood:	n/a	chr12:120906215-120906228
20	SPI1	chr12:120906089-120906385	GM12891	blood:	n/a	chr12:120906215-120906228
21	SPI1	chr12:120905953-120906396	GM12891	blood:	n/a	chr12:120906215-120906228
22	SIN3A	chr12:120906076-120908190	H1-hESC	embryonic stem cell:	n/a	chr12:120906893-120906906 chr12:120907505-120907516
23	SIN3AK20	chr12:120906124-120906540	A549	lung:	n/a	n/a
24	MXI1	chr12:120906122-120906570	K562	blood:	n/a	n/a
25	POLR2A	chr12:120906105-120908566	K562	blood:	n/a	n/a
26	SPI1	chr12:120906097-120907043	GM12878	blood:	n/a	chr12:120906215-120906228 chr12:120907014-120907027 chr12:120906634-120906643
27	CUX1	chr12:120906091-120906477	GM12878	blood:	n/a	n/a
28	EBF1	chr12:120906118-120906274	GM12878	blood:	n/a	n/a
29	NR2F2	chr12:120906043-120906772	K562	blood:	n/a	n/a
30	EBF1	chr12:120906047-120906369	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr12:120906088-120906650	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:120906063-120908065	GM12892	blood:	n/a	n/a
33	MAZ	chr12:120906107-120908303	K562	blood:	n/a	chr12:120906131-120906140
34	POLR2A	chr12:120906105-120906497	GM12878	blood:	n/a	n/a
35	PML	chr12:120906106-120906759	K562	blood:	n/a	n/a
36	POLR2A	chr12:120906116-120906756	MCF-7	breast:	n/a	n/a
37	SPI1	chr12:120906089-120906285	K562	blood:	n/a	chr12:120906215-120906228
38	ELF1	chr12:120906068-120906442	K562	blood:	n/a	n/a
39	POLR2A	chr12:120906052-120906482	GM12892	blood:	n/a	n/a
40	POLR2A	chr12:120906112-120906384	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELK1	chr12:120906087-120906367	GM12878	blood:	n/a	n/a
42	MAX	chr12:120906132-120906619	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr12:120906076-120908273	NB4	blood:	n/a	chr12:120906131-120906140
44	ZNF263	chr12:120905973-120906764	HEK293-T-REx	kidney:	n/a	n/a
45	RUNX3	chr12:120905963-120906897	GM12878	blood:	n/a	chr12:120906473-120906488 chr12:120906148-120906157 chr12:120906148-120906157
46	SP1	chr12:120906064-120906764	A549	lung:	n/a	chr12:120906720-120906729 chr12:120906718-120906730 chr12:120906720-120906729 chr12:120906719-120906728 chr12:120906718-120906730
47	ELF1	chr12:120906021-120906751	MCF-7	breast:	n/a	n/a
48	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
49	POLR2A	chr12:120906031-120906483	GM12891	blood:	n/a	n/a
50	MAX	chr12:120906117-120908377	A549	lung:	n/a	chr12:120906131-120906140

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	chr12:120873907..120875736-chr12:120904532..120906530,2	MCF-7	breast:
13	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
14	chr12:120875890..120877701-chr12:120905742..120908323,3	MCF-7	breast:
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	chr12:120905972..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	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
24	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
25	chr12:120905412..120907184-chr12:120925601..120927838,2	K562	blood:
26	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
27	chr12:120876128..120878173-chr12:120904219..120906337,2	K562	blood:

Variant related genes	Relation type
SRSF9	TF binding region
DYNLL1	TF binding region
ENSG00000222601	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000111775	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	chr12:120903600-120906200	Weak transcription	Small Intestine	intestine
2	chr12:120904600-120906600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr12:120905200-120906200	Weak transcription	Aorta	Aorta
4	chr12:120905400-120906400	Transcr. at gene 5' and 3'	K562	blood
5	chr12:120905600-120906200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120905600-120906200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:120905600-120906200	Enhancers	Colonic Mucosa	Colon
8	chr12:120905600-120906200	Enhancers	Fetal Brain Male	brain
9	chr12:120905600-120906200	Active TSS	Gastric	stomach
10	chr12:120905600-120906200	Enhancers	Spleen	Spleen
11	chr12:120905600-120906400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
12	chr12:120905600-120906400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr12:120905600-120906800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:120905600-120908400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:120905600-120908600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:120905800-120906200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:120905800-120906200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:120905800-120906200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:120905800-120906200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:120905800-120906200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:120905800-120906200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:120905800-120906200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:120905800-120906200	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr12:120905800-120906200	Weak transcription	Lung	lung
25	chr12:120905800-120906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:120905800-120906200	Flanking Active TSS	HSMM	muscle
27	chr12:120905800-120906400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:120905800-120906400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:120905800-120906400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr12:120905800-120906400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:120905800-120906400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
32	chr12:120905800-120906400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:120905800-120906400	Flanking Active TSS	Fetal Stomach	stomach
34	chr12:120905800-120906400	Flanking Active TSS	Thymus	Thymus
35	chr12:120905800-120906400	Flanking Active TSS	Hela-S3	cervix
36	chr12:120905800-120906400	Flanking Active TSS	HUVEC	blood vessel
37	chr12:120905800-120906400	Flanking Active TSS	NH-A	brain
38	chr12:120905800-120906400	Flanking Active TSS	Osteobl	bone
39	chr12:120905800-120906600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:120905800-120906600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:120905800-120906600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr12:120905800-120906600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:120905800-120906600	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr12:120905800-120906600	Flanking Active TSS	Fetal Brain Female	brain
45	chr12:120905800-120906600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr12:120905800-120906600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:120905800-120907000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:120905800-120907800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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