Variant report

Variant	rs3092877
Chromosome Location	chr13:48876901-48876902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:48876826-48878925	Raji	blood:	n/a	n/a
2	POLR2A	chr13:48876411-48880767	GM12891	blood:	n/a	n/a
3	POLR2A	chr13:48876718-48879287	IMR90	lung:	n/a	n/a
4	POLR2A	chr13:48876695-48879724	GM19099	blood:	n/a	n/a
5	POLR2A	chr13:48876214-48877034	HepG2	liver:	n/a	n/a
6	POLR2A	chr13:48876728-48878342	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr13:48876484-48879319	GM12878	blood:	n/a	n/a
8	POLR2A	chr13:48876565-48876925	GM12878	blood:	n/a	n/a
9	POLR2A	chr13:48876856-48878884	NB4	blood:	n/a	n/a
10	POLR2A	chr13:48876823-48879141	MCF10A-Er-Src	breast:	n/a	n/a
11	CHD1	chr13:48876892-48879464	IMR90	lung:	n/a	chr13:48878297-48878307
12	POLR2A	chr13:48876526-48879174	PBDE	blood:	n/a	n/a
13	POLR2A	chr13:48875820-48878109	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:48876866-48876916	K562	blood:	n/a
2	chr13:48876866-48876916	AoSMC	blood vessel:	n/a
3	chr13:48876866-48876916	HL-60	blood:	n/a
4	chr13:48876866-48876916	HUVEC	blood vessel:	n/a
5	chr13:48876866-48876916	HCT-116	colon:	n/a
6	chr13:48876866-48876916	HRCEpiC	kidney:	n/a
7	chr13:48876866-48876916	GM12878	blood:	n/a
8	chr13:48876866-48876916	BE2_C	brain:	n/a
9	chr13:48876866-48876916	NHBE	bronchial:	n/a
10	chr13:48876866-48876916	CMK	blood:	n/a
11	chr13:48876866-48876916	Hepatocyte	liver:	n/a
12	chr13:48876866-48876916	NHDF-neo	bronchial:	n/a
13	chr13:48876866-48876916	LNCaP	prostate:	n/a
14	chr13:48876866-48876916	HRE	kidney:	n/a
15	chr13:48876866-48876916	NB4	blood:	n/a
16	chr13:48876866-48876916	GM19239	blood:	n/a
17	chr13:48876866-48876916	HAEpiC	amniotic membrane:	n/a
18	chr13:48876866-48876916	SK-N-MC	brain:	n/a
19	chr13:48876866-48876916	PrEC	prostate:	n/a
20	chr13:48876866-48876916	MCF10A-Er-Src	breast:	n/a
21	chr13:48876866-48876916	HCM	heart:	n/a
22	chr13:48876866-48876916	PANC-1	pancreas:	n/a
23	chr13:48876866-48876916	ProgFib	skin:	n/a
24	chr13:48876866-48876916	IMR90	lung:	fetal
25	chr13:48876866-48876916	HNPCEpiC	eye:	n/a
26	chr13:48876866-48876916	AG09309	skin:	n/a
27	chr13:48876866-48876916	NT2-D1	testis:	n/a
28	chr13:48876866-48876916	GM12892	blood:	n/a
29	chr13:48876866-48876916	HCPEpiC	choroid plexus:	n/a
30	chr13:48876866-48876916	HPAEpiC	pulmonary alveolar:	n/a
31	chr13:48876866-48876916	SAEC	small airway:	n/a
32	chr13:48876866-48876916	Jurkat	blood:	n/a
33	chr13:48876866-48876916	HMEC	breast:	n/a
34	chr13:48876866-48876916	HEK293	kidney:	embryo
35	chr13:48876866-48876916	PFSK-1	brain:	n/a
36	chr13:48876866-48876916	GM06990	blood:	n/a
37	chr13:48876866-48876916	AG09319	gingival:	n/a
38	chr13:48876866-48876916	RPTEC	kidney:	n/a
39	chr13:48876866-48876916	BJ	skin:	n/a
40	chr13:48876866-48876916	AG04449	skin:	fetal
41	chr13:48876866-48876916	ECC-1	luminal epithelium:	n/a
42	chr13:48876866-48876916	U87	brain:	n/a
43	chr13:48876866-48876916	HEEpiC	esophagus:	n/a
44	chr13:48876866-48876916	Hela-S3	cervix:	n/a
45	chr13:48876866-48876916	NH-A	brain:	n/a
46	chr13:48876866-48876916	SK-N-SH	brain:	n/a
47	chr13:48876866-48876916	T-47D	breast:	n/a
48	chr13:48876866-48876916	HRPEpiC	eye:	n/a
49	chr13:48876866-48876916	ovcar-3	ovarian:	n/a
50	chr13:48876866-48876916	AG04450	lung:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:48806118..48810225-chr13:48876144..48879386,12	MCF-7	breast:
2	chr13:48806544..48809798-chr13:48876519..48878974,4	K562	blood:
3	chr13:48876409..48879041-chr13:48891404..48895274,4	K562	blood:
4	chr13:48851960..48854495-chr13:48874913..48877525,3	K562	blood:

No data

Variant related genes	Relation type
RB1	TF binding region
RB1	CpG island
ENSG00000238086	Chromatin interaction
ENSG00000136156	Chromatin interaction

rs_ID	r²[population]
rs12430215	0.82[YRI][hapmap]
rs2227311	0.82[YRI][hapmap]
rs4151450	1.00[YRI][hapmap]
rs4151510	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs943278	1.00[YRI][hapmap]
rs9535032	1.00[YRI][hapmap]

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48844400-48877200	Weak transcription	Aorta	Aorta
2	chr13:48866200-48877200	Weak transcription	Left Ventricle	heart
3	chr13:48870200-48877000	Weak transcription	HSMMtube	muscle
4	chr13:48871000-48877000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:48871200-48877000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:48871400-48877000	Weak transcription	Primary B cells from cord blood	blood
7	chr13:48871800-48877200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:48876000-48877000	Enhancers	Fetal Thymus	thymus
9	chr13:48876200-48877000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:48876200-48877200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:48876400-48877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:48876400-48877000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:48876400-48877000	Enhancers	Fetal Intestine Small	intestine
14	chr13:48876400-48877000	Flanking Active TSS	Dnd41	blood
15	chr13:48876400-48877000	Enhancers	HMEC	breast
16	chr13:48876400-48877200	Enhancers	Fetal Heart	heart
17	chr13:48876400-48877200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr13:48876400-48879200	Active TSS	Stomach Smooth Muscle	stomach
19	chr13:48876600-48877000	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr13:48876600-48877000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr13:48876600-48877000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr13:48876600-48877000	Enhancers	Right Ventricle	heart
23	chr13:48876600-48877000	Flanking Active TSS	Hela-S3	cervix
24	chr13:48876600-48877000	Enhancers	HUVEC	blood vessel
25	chr13:48876600-48877200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:48876600-48877200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:48876600-48877200	Enhancers	Brain Substantia Nigra	brain
28	chr13:48876600-48877200	Enhancers	Colon Smooth Muscle	Colon
29	chr13:48876600-48877200	Enhancers	Osteobl	bone
30	chr13:48876600-48877400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr13:48876600-48878600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr13:48876600-48878800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr13:48876600-48879000	Active TSS	Fetal Kidney	kidney
34	chr13:48876600-48879000	Active TSS	GM12878-XiMat	blood
35	chr13:48876600-48879200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:48876600-48879400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr13:48876800-48877000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:48876800-48877000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:48876800-48877000	Enhancers	Primary T cells from cord blood	blood
40	chr13:48876800-48877000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:48876800-48877000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:48876800-48877000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:48876800-48877000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:48876800-48877000	Enhancers	Adipose Nuclei	Adipose
45	chr13:48876800-48877000	Enhancers	Liver	Liver
46	chr13:48876800-48877000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr13:48876800-48877000	Enhancers	Fetal Brain Female	brain
48	chr13:48876800-48877000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr13:48876800-48877000	Enhancers	Fetal Stomach	stomach
50	chr13:48876800-48877000	Flanking Active TSS	Rectal Smooth Muscle	rectum

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