Variant report

Variant	rs548322638
Chromosome Location	chr4:77133956-77133957
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	REST	chr4:77133541-77135783	H1-neurons	neurons:	n/a	chr4:77134853-77134866
2	POLR2A	chr4:77133948-77135640	H1-neurons	neurons:	n/a	n/a
3	RUNX3	chr4:77133838-77134513	GM12878	blood:	n/a	n/a
4	EBF1	chr4:77133932-77134308	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr4:77133845-77134270	GM12878	blood:	n/a	n/a
6	RUNX3	chr4:77133841-77135796	GM12878	blood:	n/a	chr4:77135372-77135389
7	MTA3	chr4:77133864-77135910	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:77133890-77135605	H1-neurons	neurons:	n/a	n/a
9	MAZ	chr4:77133501-77135795	IMR90	lung:	n/a	chr4:77134805-77134814 chr4:77135297-77135306 chr4:77135116-77135126 chr4:77135296-77135306 chr4:77135061-77135071
10	MXI1	chr4:77133896-77136065	IMR90	lung:	n/a	n/a
11	EBF1	chr4:77133908-77134332	GM12878	blood:	n/a	n/a
12	ZC3H11A	chr4:77133897-77134062	K562	blood:	n/a	n/a
13	RELA	chr4:77133876-77135828	GM18951	blood:	n/a	n/a
14	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
ENSG00000138750	Chromatin interaction
ENSG00000272414	Chromatin interaction
ENSG00000189157	Chromatin interaction
ENSG00000118804	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77113200-77134000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:77113600-77134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:77117000-77134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:77121400-77134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:77130800-77134000	Enhancers	Primary B cells from peripheral blood	blood
6	chr4:77130800-77134000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:77130800-77134800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:77131000-77134000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:77131000-77134600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:77131200-77134200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr4:77131400-77134000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr4:77131400-77134000	Flanking Active TSS	Osteobl	bone
13	chr4:77131600-77134200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:77131600-77134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:77131600-77134600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr4:77131600-77134600	Flanking Active TSS	Liver	Liver
17	chr4:77131800-77134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:77132200-77134000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:77132200-77134000	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr4:77132200-77134000	Flanking Active TSS	HepG2	liver
21	chr4:77132200-77134200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr4:77132200-77135600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:77132400-77134000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:77132400-77134200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:77132400-77134200	Flanking Active TSS	HUVEC	blood vessel
26	chr4:77132600-77134000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:77132600-77134400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr4:77132600-77135400	Active TSS	NHDF-Ad	bronchial
29	chr4:77132800-77134000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:77132800-77134000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr4:77132800-77134000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr4:77132800-77134000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:77132800-77134000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:77132800-77134000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:77132800-77134000	Enhancers	Spleen	Spleen
36	chr4:77132800-77134000	Enhancers	K562	blood
37	chr4:77132800-77134200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr4:77132800-77134200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr4:77132800-77134200	Flanking Active TSS	HMEC	breast
40	chr4:77132800-77134200	Flanking Active TSS	NH-A	brain
41	chr4:77132800-77134400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr4:77132800-77134400	Flanking Active TSS	Hela-S3	cervix
43	chr4:77132800-77134600	Flanking Active TSS	Dnd41	blood
44	chr4:77132800-77135200	Active TSS	Fetal Muscle Trunk	muscle
45	chr4:77133000-77134000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:77133000-77134200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:77133000-77135200	Active TSS	Pancreas	Pancrea
48	chr4:77133000-77135200	Active TSS	Right Ventricle	heart
49	chr4:77133000-77135400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:77133000-77135400	Active TSS	Gastric	stomach

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