Variant report

Variant	rs561549449
Chromosome Location	chr4:77133454-77133455
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:77133360-77133510	HCPEpiC	choroid plexus:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:77133417-77133467	A549	lung:	n/a
2	chr4:77133417-77133467	BE2_C	brain:	n/a
3	chr4:77133417-77133467	Hela-S3	cervix:	n/a
4	chr4:77133417-77133467	IMR90	lung:	fetal
5	chr4:77133417-77133467	GM12891	blood:	n/a
6	chr4:77133417-77133467	PFSK-1	brain:	n/a
7	chr4:77133417-77133467	BJ	skin:	n/a
8	chr4:77133417-77133467	AG09309	skin:	n/a
9	chr4:77133417-77133467	HNPCEpiC	eye:	n/a
10	chr4:77133417-77133467	HIPEpiC	eye:	n/a
11	chr4:77133417-77133467	ProgFib	skin:	n/a
12	chr4:77133417-77133467	HRPEpiC	eye:	n/a
13	chr4:77133417-77133467	Hepatocyte	liver:	n/a
14	chr4:77133417-77133467	HUVEC	blood vessel:	n/a
15	chr4:77133417-77133467	AoSMC	blood vessel:	n/a
16	chr4:77133417-77133467	NHDF-neo	bronchial:	n/a
17	chr4:77133417-77133467	AG09319	gingival:	n/a
18	chr4:77133417-77133467	HEEpiC	esophagus:	n/a
19	chr4:77133417-77133467	SAEC	small airway:	n/a
20	chr4:77133417-77133467	PANC-1	pancreas:	n/a
21	chr4:77133417-77133467	GM19239	blood:	n/a
22	chr4:77133417-77133467	K562	blood:	n/a
23	chr4:77133417-77133467	MCF-7	breast:	n/a
24	chr4:77133417-77133467	HCM	heart:	n/a
25	chr4:77133417-77133467	Jurkat	blood:	n/a
26	chr4:77133417-77133467	NT2-D1	testis:	n/a
27	chr4:77133417-77133467	CMK	blood:	n/a
28	chr4:77133417-77133467	GM06990	blood:	n/a
29	chr4:77133417-77133467	AG04450	lung:	fetal
30	chr4:77133417-77133467	HepG2	liver:	n/a
31	chr4:77133417-77133467	ECC-1	luminal epithelium:	n/a
32	chr4:77133417-77133467	T-47D	breast:	n/a
33	chr4:77133417-77133467	PrEC	prostate:	n/a
34	chr4:77133417-77133467	NHBE	bronchial:	n/a
35	chr4:77133417-77133467	HCF	heart:	n/a
36	chr4:77133417-77133467	SKMC	muscle:	n/a
37	chr4:77133417-77133467	RPTEC	kidney:	n/a
38	chr4:77133417-77133467	HL-60	blood:	n/a
39	chr4:77133417-77133467	Caco-2	colon:	n/a
40	chr4:77133417-77133467	HRCEpiC	kidney:	n/a
41	chr4:77133417-77133467	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:77133417-77133467	AG04449	skin:	fetal
43	chr4:77133417-77133467	LNCaP	prostate:	n/a
44	chr4:77133417-77133467	HCPEpiC	choroid plexus:	n/a
45	chr4:77133417-77133467	HEK293	kidney:	embryo
46	chr4:77133417-77133467	AG10803	skin:	n/a
47	chr4:77133417-77133467	SK-N-SH	brain:	n/a
48	chr4:77133417-77133467	H1-hESC	embryonic stem cell:	embryo
49	chr4:77133417-77133467	MCF10A-Er-Src	breast:	n/a
50	chr4:77133417-77133467	HMEC	breast:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
2	chr4:77132690..77134987-chr4:77135558..77138954,3	K562	blood:
3	chr4:77133278..77135557-chr4:77171656..77174471,3	MCF-7	breast:
4	chr4:77062870..77064723-chr4:77131850..77133606,2	K562	blood:
5	chr4:77066331..77070645-chr4:77133023..77136401,5	K562	blood:
6	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:

No data

Variant related genes	Relation type
FAM47E	TF binding region
FAM47E	CpG island
ENSG00000189157	Chromatin interaction
ENSG00000118804	Chromatin interaction
ENSG00000138750	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:124 , 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	chr4:77121400-77133600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:77121400-77134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:77122400-77133600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:77128800-77133600	Enhancers	Small Intestine	intestine
8	chr4:77130200-77133800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:77130200-77133800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:77130800-77133600	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr4:77130800-77133800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr4:77130800-77134000	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:77130800-77134000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:77130800-77134800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr4:77131000-77133600	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr4:77131000-77134000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:77131000-77134600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:77131200-77133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:77131200-77134200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr4:77131400-77133800	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:77131400-77134000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr4:77131400-77134000	Flanking Active TSS	Osteobl	bone
23	chr4:77131600-77134200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:77131600-77134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:77131600-77134600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr4:77131600-77134600	Flanking Active TSS	Liver	Liver
27	chr4:77131800-77134600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:77132200-77133600	Flanking Active TSS	Fetal Brain Male	brain
29	chr4:77132200-77133600	Flanking Active TSS	Fetal Lung	lung
30	chr4:77132200-77133600	Flanking Active TSS	HSMMtube	muscle
31	chr4:77132200-77133800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:77132200-77133800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr4:77132200-77134000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:77132200-77134000	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr4:77132200-77134000	Flanking Active TSS	HepG2	liver
36	chr4:77132200-77134200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr4:77132200-77135600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:77132400-77133600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr4:77132400-77133800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:77132400-77133800	Enhancers	Fetal Kidney	kidney
41	chr4:77132400-77134000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:77132400-77134200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:77132400-77134200	Flanking Active TSS	HUVEC	blood vessel
44	chr4:77132600-77133600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:77132600-77133800	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr4:77132600-77133800	Flanking Active TSS	Psoas Muscle	Psoas
47	chr4:77132600-77134000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:77132600-77134400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr4:77132600-77135400	Active TSS	NHDF-Ad	bronchial
50	chr4:77132800-77133600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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