Variant report

Variant	rs555146289
Chromosome Location	chr4:77134273-77134274
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	RCOR1	chr4:77134073-77134336	GM12878	blood:	n/a	n/a
2	HA-E2F1	chr4:77134182-77135813	MCF-7	breast:	n/a	chr4:77134790-77134805 chr4:77135095-77135105 chr4:77135061-77135070
3	REST	chr4:77133541-77135783	H1-neurons	neurons:	n/a	chr4:77134853-77134866
4	POLR2A	chr4:77133948-77135640	H1-neurons	neurons:	n/a	n/a
5	RUNX3	chr4:77133838-77134513	GM12878	blood:	n/a	n/a
6	MYC	chr4:77134132-77134320	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF7L2	chr4:77133991-77135236	Hela-S3	cervix:	n/a	chr4:77134170-77134179 chr4:77134172-77134179 chr4:77134167-77134181
8	MAZ	chr4:77134223-77135529	GM12878	blood:	n/a	chr4:77134805-77134814 chr4:77135297-77135306 chr4:77135116-77135126 chr4:77135296-77135306 chr4:77135061-77135071
9	POLR2A	chr4:77133990-77135763	GM12878	blood:	n/a	n/a
10	EBF1	chr4:77133932-77134308	GM12878	blood:	n/a	n/a
11	TCF7L2	chr4:77134002-77135483	HCT-116	colon:	n/a	chr4:77134170-77134179 chr4:77134172-77134179 chr4:77134167-77134181
12	TCF7L2	chr4:77133988-77134618	PANC-1	pancreas:	n/a	chr4:77134170-77134179 chr4:77134172-77134179 chr4:77134167-77134181
13	TAF1	chr4:77134238-77135636	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr4:77134189-77136047	HepG2	liver:	n/a	n/a
15	EP300	chr4:77133993-77134340	GM12878	blood:	n/a	chr4:77134226-77134240
16	POLR2A	chr4:77134127-77135660	K562	blood:	n/a	n/a
17	RUNX3	chr4:77133841-77135796	GM12878	blood:	n/a	chr4:77135372-77135389
18	KAP1	chr4:77134086-77135593	HEK293	kidney:	n/a	n/a
19	POLR2A	chr4:77134165-77135748	GM19193	blood:	n/a	n/a
20	MXI1	chr4:77133993-77134336	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:77134007-77134275	GM12878	blood:	n/a	n/a
22	MTA3	chr4:77133864-77135910	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:77133890-77135605	H1-neurons	neurons:	n/a	n/a
24	MAZ	chr4:77133501-77135795	IMR90	lung:	n/a	chr4:77134805-77134814 chr4:77135297-77135306 chr4:77135116-77135126 chr4:77135296-77135306 chr4:77135061-77135071
25	POLR2A	chr4:77134074-77135756	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr4:77134107-77135697	HepG2	liver:	n/a	n/a
27	REST	chr4:77133982-77134988	H1-neurons	neurons:	n/a	chr4:77134853-77134866
28	POLR2A	chr4:77134166-77135626	HepG2	liver:	n/a	n/a
29	CHD2	chr4:77134128-77135608	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:77134121-77135489	MCF10A-Er-Src	breast:	n/a	n/a
31	MXI1	chr4:77133896-77136065	IMR90	lung:	n/a	n/a
32	POLR2A	chr4:77134116-77135842	PBDE	blood:	n/a	n/a
33	EBF1	chr4:77133908-77134332	GM12878	blood:	n/a	n/a
34	MAX	chr4:77134219-77135491	SK-N-SH	brain:	n/a	chr4:77134805-77134814 chr4:77135297-77135306 chr4:77135116-77135126 chr4:77135296-77135306 chr4:77135061-77135071
35	ZNF263	chr4:77134028-77135584	HEK293-T-REx	kidney:	n/a	chr4:77134755-77134764
36	TCF7L2	chr4:77133995-77134338	MCF-7	breast:	n/a	chr4:77134170-77134179 chr4:77134172-77134179 chr4:77134167-77134181
37	RELA	chr4:77133876-77135828	GM18951	blood:	n/a	n/a
38	MAZ	chr4:77134136-77135390	K562	blood:	n/a	chr4:77134805-77134814 chr4:77135297-77135306 chr4:77135116-77135126 chr4:77135296-77135306 chr4:77135061-77135071
39	MTA3	chr4:77133934-77134502	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77133904..77135705-chr4:77183809..77185526,2	MCF-7	breast:
2	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
3	chr4:77132690..77134987-chr4:77135558..77138954,3	K562	blood:
4	chr4:77133278..77135557-chr4:77171656..77174471,3	MCF-7	breast:
5	chr4:77066331..77070645-chr4:77133023..77136401,5	K562	blood:
6	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:

Variant related genes	Relation type
FAM47E	TF binding region
ENSG00000118804	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000189157	Chromatin interaction
ENSG00000272414	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	esv3436996	chr4:77132828-77137126	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 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	chr4:77130800-77134800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr4:77131000-77134600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:77131600-77134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:77131600-77134600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr4:77131600-77134600	Flanking Active TSS	Liver	Liver
6	chr4:77131800-77134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:77132200-77135600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:77132600-77134400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr4:77132600-77135400	Active TSS	NHDF-Ad	bronchial
10	chr4:77132800-77134400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr4:77132800-77134400	Flanking Active TSS	Hela-S3	cervix
12	chr4:77132800-77134600	Flanking Active TSS	Dnd41	blood
13	chr4:77132800-77135200	Active TSS	Fetal Muscle Trunk	muscle
14	chr4:77133000-77135200	Active TSS	Pancreas	Pancrea
15	chr4:77133000-77135200	Active TSS	Right Ventricle	heart
16	chr4:77133000-77135400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:77133000-77135400	Active TSS	Gastric	stomach
18	chr4:77133000-77135600	Active TSS	Ovary	ovary
19	chr4:77133200-77134600	Active TSS	Right Atrium	heart
20	chr4:77133200-77135200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:77133200-77135200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr4:77133200-77135200	Active TSS	HSMM	muscle
23	chr4:77133200-77135200	Active TSS	NHLF	lung
24	chr4:77133200-77135400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:77133200-77135400	Active TSS	Fetal Brain Female	brain
26	chr4:77133200-77135400	Active TSS	Left Ventricle	heart
27	chr4:77133200-77135600	Active TSS	Aorta	Aorta
28	chr4:77133200-77135800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:77133400-77134400	Flanking Active TSS	NHEK	skin
30	chr4:77133400-77134600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr4:77133400-77134600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr4:77133400-77135200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:77133400-77135400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:77133400-77135400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:77133400-77135400	Active TSS	Brain Germinal Matrix	brain
36	chr4:77133400-77135400	Active TSS	Brain Hippocampus Middle	brain
37	chr4:77133400-77135400	Active TSS	Stomach Mucosa	stomach
38	chr4:77133400-77135400	Active TSS	A549	lung
39	chr4:77133400-77135600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:77133400-77135600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr4:77133600-77134400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:77133600-77134600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:77133600-77135200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:77133600-77135200	Active TSS	Fetal Brain Male	brain
45	chr4:77133600-77135200	Active TSS	Fetal Intestine Large	intestine
46	chr4:77133600-77135200	Active TSS	HSMMtube	muscle
47	chr4:77133600-77135400	Active TSS	Brain Anterior Caudate	brain
48	chr4:77133600-77135400	Active TSS	Brain Cingulate Gyrus	brain
49	chr4:77133600-77135400	Active TSS	Brain Substantia Nigra	brain
50	chr4:77133600-77135400	Active TSS	Esophagus	oesophagus

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