Variant report

Variant	rs375256123
Chromosome Location	chr15:49449717-49449718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:49449690-49449740	NB4	blood:	n/a
2	chr15:49449690-49449740	GM12878	blood:	n/a
3	chr15:49449690-49449740	ovcar-3	ovarian:	n/a
4	chr15:49449690-49449740	AG04449	skin:	fetal
5	chr15:49449690-49449740	LNCaP	prostate:	n/a
6	chr15:49449690-49449740	HepG2	liver:	n/a
7	chr15:49449690-49449740	BJ	skin:	n/a
8	chr15:49449690-49449740	GM12891	blood:	n/a
9	chr15:49449690-49449740	BE2_C	brain:	n/a
10	chr15:49449690-49449740	GM19239	blood:	n/a
11	chr15:49449690-49449740	AG09309	skin:	n/a
12	chr15:49449690-49449740	HNPCEpiC	eye:	n/a
13	chr15:49449690-49449740	HCT-116	colon:	n/a
14	chr15:49449690-49449740	NT2-D1	testis:	n/a
15	chr15:49449690-49449740	HEEpiC	esophagus:	n/a
16	chr15:49449690-49449740	PANC-1	pancreas:	n/a
17	chr15:49449690-49449740	SAEC	small airway:	n/a
18	chr15:49449690-49449740	HCM	heart:	n/a
19	chr15:49449690-49449740	MCF-7	breast:	n/a
20	chr15:49449690-49449740	AG10803	skin:	n/a
21	chr15:49449690-49449740	AoSMC	blood vessel:	n/a
22	chr15:49449690-49449740	GM06990	blood:	n/a
23	chr15:49449690-49449740	CMK	blood:	n/a
24	chr15:49449690-49449740	HMEC	breast:	n/a
25	chr15:49449690-49449740	Hepatocyte	liver:	n/a
26	chr15:49449690-49449740	T-47D	breast:	n/a
27	chr15:49449690-49449740	HCPEpiC	choroid plexus:	n/a
28	chr15:49449690-49449740	HL-60	blood:	n/a
29	chr15:49449690-49449740	Hela-S3	cervix:	n/a
30	chr15:49449690-49449740	A549	lung:	n/a
31	chr15:49449690-49449740	RPTEC	kidney:	n/a
32	chr15:49449690-49449740	HRPEpiC	eye:	n/a
33	chr15:49449690-49449740	SKMC	muscle:	n/a
34	chr15:49449690-49449740	HAEpiC	amniotic membrane:	n/a
35	chr15:49449690-49449740	SK-N-MC	brain:	n/a
36	chr15:49449690-49449740	HIPEpiC	eye:	n/a
37	chr15:49449690-49449740	IMR90	lung:	fetal
38	chr15:49449690-49449740	U87	brain:	n/a
39	chr15:49449690-49449740	NHBE	bronchial:	n/a
40	chr15:49449690-49449740	HUVEC	blood vessel:	n/a
41	chr15:49449690-49449740	ECC-1	luminal epithelium:	n/a
42	chr15:49449690-49449740	SK-N-SH	brain:	n/a
43	chr15:49449690-49449740	HPAEpiC	pulmonary alveolar:	n/a
44	chr15:49449690-49449740	H1-hESC	embryonic stem cell:	embryo
45	chr15:49449690-49449740	HRE	kidney:	n/a
46	chr15:49449690-49449740	GM12892	blood:	n/a
47	chr15:49449690-49449740	NHDF-neo	bronchial:	n/a
48	chr15:49449690-49449740	PrEC	prostate:	n/a
49	chr15:49449690-49449740	AG09319	gingival:	n/a
50	chr15:49449690-49449740	ProgFib	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:49443824..49452367-chr15:49460648..49465189,20	K562	blood:
2	chr15:49446083..49452367-chr15:49460693..49464702,19	K562	blood:
3	chr15:49424882..49426670-chr15:49449093..49451869,2	MCF-7	breast:
4	chr15:49446471..49449731-chr15:49460521..49465602,13	MCF-7	breast:
5	chr15:49446244..49450190-chr15:50645448..50647621,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF7-3	chr15:49448495-49450822	NR_036507

No data

Variant related genes	Relation type
COPS2	CpG island
ENSG00000104064	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000264210	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	nsv974572	chr15:49448277-49450621	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49445800-49450400	Active TSS	NHLF	lung
2	chr15:49446000-49450000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:49446400-49450400	Active TSS	GM12878-XiMat	blood
4	chr15:49446600-49450000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:49448400-49449800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:49448400-49450000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:49448800-49450000	Flanking Active TSS	Dnd41	blood
8	chr15:49448800-49450200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:49448800-49450200	Enhancers	Colon Smooth Muscle	Colon
10	chr15:49448800-49450400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:49448800-49450400	Active TSS	Duodenum Mucosa	Duodenum
12	chr15:49448800-49456200	Weak transcription	Gastric	stomach
13	chr15:49448800-49461400	Weak transcription	Small Intestine	intestine
14	chr15:49448800-49461800	Weak transcription	Colonic Mucosa	Colon
15	chr15:49448800-49461800	Weak transcription	Stomach Mucosa	stomach
16	chr15:49448800-49462000	Weak transcription	Placenta	Placenta
17	chr15:49448800-49462000	Weak transcription	Left Ventricle	heart
18	chr15:49448800-49462000	Weak transcription	Lung	lung
19	chr15:49448800-49462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:49448800-49462200	Weak transcription	Ovary	ovary
21	chr15:49448800-49462200	Weak transcription	Pancreas	Pancrea
22	chr15:49448800-49462200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:49448800-49462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:49448800-49462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:49448800-49462400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:49448800-49462400	Weak transcription	Spleen	Spleen
27	chr15:49449000-49449800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:49449000-49449800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr15:49449000-49450000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:49449000-49450000	Enhancers	Primary T cells from cord blood	blood
31	chr15:49449000-49450000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:49449000-49450200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr15:49449000-49450400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr15:49449000-49450600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr15:49449000-49453200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:49449000-49454200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr15:49449000-49454400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:49449000-49454800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:49449000-49461600	Weak transcription	Fetal Intestine Small	intestine
40	chr15:49449000-49461800	Weak transcription	Brain Germinal Matrix	brain
41	chr15:49449000-49462000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr15:49449000-49462000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:49449000-49462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:49449000-49462000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr15:49449000-49462000	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:49449000-49462000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:49449000-49462200	Weak transcription	Thymus	Thymus
48	chr15:49449200-49449800	Enhancers	Brain Hippocampus Middle	brain
49	chr15:49449200-49450000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:49449200-49450400	Enhancers	Hela-S3	cervix

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