Variant report

Variant	rs76108673
Chromosome Location	chr12:120906423-120906424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

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	CCNT2	chr12:120906309-120908074	K562	blood:	n/a	n/a
3	HCFC1	chr12:120906158-120908229	Hela-S3	cervix:	n/a	n/a
4	WRNIP1	chr12:120906150-120906937	GM12878	blood:	n/a	n/a
5	RFX5	chr12:120906360-120906651	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr12:120906106-120908533	K562	blood:	n/a	chr12:120906131-120906140
7	MTA3	chr12:120905952-120906532	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:120905974-120906616	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr12:120906055-120906730	K562	blood:	n/a	n/a
10	MXI1	chr12:120905869-120908464	SK-N-SH	brain:	n/a	n/a
11	SIN3AK20	chr12:120906024-120906693	SK-N-SH	brain:	n/a	n/a
12	RCOR1	chr12:120906145-120906476	K562	blood:	n/a	n/a
13	UBTF	chr12:120906149-120907071	K562	blood:	n/a	n/a
14	POLR2A	chr12:120905995-120906630	GM12878	blood:	n/a	n/a
15	MXI1	chr12:120906352-120906759	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr12:120906226-120906480	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:120906115-120908400	K562	blood:	n/a	n/a
18	IRF1	chr12:120906094-120906536	K562	blood:	n/a	chr12:120906215-120906228
19	HEY1	chr12:120906058-120906891	K562	blood:	n/a	chr12:120906867-120906882 chr12:120906870-120906885
20	TEAD4	chr12:120906070-120906646	K562	blood:	n/a	n/a
21	ELF1	chr12:120905967-120906602	K562	blood:	n/a	n/a
22	TBP	chr12:120906249-120906558	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr12:120906152-120906529	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr12:120906088-120906601	K562	blood:	n/a	n/a
25	TBL1XR1	chr12:120906247-120906621	K562	blood:	n/a	n/a
26	EP300	chr12:120906321-120906519	HepG2	liver:	n/a	n/a
27	YY1	chr12:120906194-120906481	A549	lung:	n/a	n/a
28	POLR2A	chr12:120906185-120906562	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr12:120905903-120908370	IMR90	lung:	n/a	n/a
30	ARID3A	chr12:120906211-120906532	HepG2	liver:	n/a	n/a
31	RUNX3	chr12:120905952-120906755	GM12878	blood:	n/a	chr12:120906473-120906488 chr12:120906148-120906157 chr12:120906148-120906157
32	RCOR1	chr12:120906150-120906526	K562	blood:	n/a	n/a
33	CTCF	chr12:120906320-120906470	NHDF-neo	bronchial:	n/a	n/a
34	POLR2A	chr12:120906240-120906450	MCF-7	breast:	n/a	n/a
35	BHLHE40	chr12:120906361-120906439	K562	blood:	n/a	n/a
36	MYC	chr12:120906225-120906639	K562	blood:	n/a	n/a
37	YY1	chr12:120906262-120906633	K562	blood:	n/a	n/a
38	SIN3A	chr12:120906076-120908190	H1-hESC	embryonic stem cell:	n/a	chr12:120906893-120906906 chr12:120907505-120907516
39	SIN3AK20	chr12:120906124-120906540	A549	lung:	n/a	n/a
40	POLR2A	chr12:120906187-120906514	H1-neurons	neurons:	n/a	n/a
41	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
42	MXI1	chr12:120906122-120906570	K562	blood:	n/a	n/a
43	POLR2A	chr12:120906105-120908566	K562	blood:	n/a	n/a
44	JUND	chr12:120906176-120906472	K562	blood:	n/a	n/a
45	SPI1	chr12:120906097-120907043	GM12878	blood:	n/a	chr12:120906215-120906228 chr12:120907014-120907027 chr12:120906634-120906643
46	CUX1	chr12:120906091-120906477	GM12878	blood:	n/a	n/a
47	REST	chr12:120906176-120908333	H1-neurons	neurons:	n/a	chr12:120907866-120907879 chr12:120906526-120906533 chr12:120906893-120906906
48	NR2F2	chr12:120906043-120906772	K562	blood:	n/a	n/a
49	POLR2A	chr12:120906148-120906517	GM12878	blood:	n/a	n/a
50	CEBPB	chr12:120906401-120906557	HepG2	liver:	n/a	chr12:120906533-120906544 chr12:120906533-120906544

No data

(count:28 , 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	chr12:120904864..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	chr12:120794442..120794968-chr12:120906277..120906800,2	K562	blood:
16	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
17	chr12:120877548..120880154-chr12:120905733..120907532,2	MCF-7	breast:
18	chr12:120728388..120731475-chr12:120905367..120907269,3	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	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
26	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
27	chr12:120905412..120907184-chr12:120925601..120927838,2	K562	blood:
28	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:

No data

Variant related genes	Relation type
SRSF9	TF binding region
DYNLL1	TF binding region
ENSG00000222601	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000248008	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	chr12:120904600-120906600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:120905600-120906800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:120905600-120908400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:120905600-120908600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:120905800-120906600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr12:120905800-120906600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:120905800-120906600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr12:120905800-120906600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:120905800-120906600	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr12:120905800-120906600	Flanking Active TSS	Fetal Brain Female	brain
11	chr12:120905800-120906600	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr12:120905800-120906600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:120905800-120907000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:120905800-120907800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:120905800-120907800	Active TSS	HMEC	breast
18	chr12:120905800-120907800	Active TSS	NHEK	skin
19	chr12:120905800-120908000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:120905800-120908000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:120905800-120908000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:120905800-120908000	Active TSS	Brain Angular Gyrus	brain
23	chr12:120905800-120908000	Active TSS	Pancreas	Pancrea
24	chr12:120905800-120908000	Active TSS	GM12878-XiMat	blood
25	chr12:120905800-120908000	Active TSS	HSMMtube	muscle
26	chr12:120905800-120908400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:120905800-120908400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:120905800-120908400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:120905800-120908400	Active TSS	Psoas Muscle	Psoas
30	chr12:120905800-120908600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr12:120905800-120908600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:120905800-120908600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr12:120906000-120906600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:120906000-120906600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:120906000-120906600	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr12:120906000-120906600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:120906000-120906600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:120906000-120906600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr12:120906000-120906600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:120906000-120906600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:120906000-120906600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:120906000-120906600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr12:120906000-120906600	Flanking Active TSS	Liver	Liver
44	chr12:120906000-120906600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr12:120906000-120906600	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr12:120906000-120906600	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr12:120906000-120906600	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr12:120906000-120906600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:120906000-120906600	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr12:120906000-120906600	Flanking Active TSS	Right Ventricle	heart

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