Variant report

Variant	rs142471581
Chromosome Location	chr15:82335009-82335010
allele	A/G
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	MXI1	chr15:82334810-82340509	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82334984-82335034	BE2_C	brain:	n/a
2	chr15:82334984-82335034	A549	lung:	n/a
3	chr15:82334984-82335034	GM12891	blood:	n/a
4	chr15:82334984-82335034	PrEC	prostate:	n/a
5	chr15:82334984-82335034	HCT-116	colon:	n/a
6	chr15:82334984-82335034	GM19239	blood:	n/a
7	chr15:82334984-82335034	GM12878	blood:	n/a
8	chr15:82334984-82335034	GM12892	blood:	n/a
9	chr15:82334984-82335034	HCF	heart:	n/a
10	chr15:82334984-82335034	HRE	kidney:	n/a
11	chr15:82334984-82335034	SK-N-SH	brain:	n/a
12	chr15:82334984-82335034	MCF-7	breast:	n/a
13	chr15:82334984-82335034	HNPCEpiC	eye:	n/a
14	chr15:82334984-82335034	SK-N-MC	brain:	n/a
15	chr15:82334984-82335034	HL-60	blood:	n/a
16	chr15:82334984-82335034	T-47D	breast:	n/a
17	chr15:82334984-82335034	PANC-1	pancreas:	n/a
18	chr15:82334984-82335034	PFSK-1	brain:	n/a
19	chr15:82334984-82335034	HIPEpiC	eye:	n/a
20	chr15:82334984-82335034	AG04449	skin:	fetal
21	chr15:82334984-82335034	AG09319	gingival:	n/a
22	chr15:82334984-82335034	HUVEC	blood vessel:	n/a
23	chr15:82334984-82335034	ECC-1	luminal epithelium:	n/a
24	chr15:82334984-82335034	CMK	blood:	n/a
25	chr15:82334984-82335034	BJ	skin:	n/a
26	chr15:82334984-82335034	AG10803	skin:	n/a
27	chr15:82334984-82335034	ProgFib	skin:	n/a
28	chr15:82334984-82335034	NB4	blood:	n/a
29	chr15:82334984-82335034	AG04450	lung:	fetal
30	chr15:82334984-82335034	NH-A	brain:	n/a
31	chr15:82334984-82335034	GM06990	blood:	n/a
32	chr15:82334984-82335034	SAEC	small airway:	n/a
33	chr15:82334984-82335034	SKMC	muscle:	n/a
34	chr15:82334984-82335034	AoSMC	blood vessel:	n/a
35	chr15:82334984-82335034	NHDF-neo	bronchial:	n/a
36	chr15:82334984-82335034	RPTEC	kidney:	n/a
37	chr15:82334984-82335034	Jurkat	blood:	n/a
38	chr15:82334984-82335034	HRCEpiC	kidney:	n/a
39	chr15:82334984-82335034	HCPEpiC	choroid plexus:	n/a
40	chr15:82334984-82335034	Caco-2	colon:	n/a
41	chr15:82334984-82335034	U87	brain:	n/a
42	chr15:82334984-82335034	AG09309	skin:	n/a
43	chr15:82334984-82335034	Hepatocyte	liver:	n/a
44	chr15:82334984-82335034	IMR90	lung:	fetal
45	chr15:82334984-82335034	Hela-S3	cervix:	n/a
46	chr15:82334984-82335034	NHBE	bronchial:	n/a
47	chr15:82334984-82335034	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:82334984-82335034	HEK293	kidney:	embryo
49	chr15:82334984-82335034	LNCaP	prostate:	n/a
50	chr15:82334984-82335034	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:82095888..82097859-chr15:82332803..82335499,2	K562	blood:
2	chr15:82333925..82335787-chr15:82348964..82351774,2	MCF-7	breast:
3	chr15:82330594..82336594-chr15:82336813..82340577,9	K562	blood:
4	chr15:82332579..82335110-chr15:82342435..82344275,2	K562	blood:
5	chr15:82333605..82336369-chr15:82346217..82348896,2	MCF-7	breast:
6	chr15:82299760..82303058-chr15:82332264..82335755,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222521	TF binding region
ENSG00000222521	CpG island
ENSG00000183496	Chromatin interaction
ENSG00000259622	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv827415	chr15:82333348-82340769	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3344827	chr15:82334647-82340995	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82331400-82335200	Weak transcription	Thymus	Thymus
2	chr15:82332000-82335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:82332000-82335400	Weak transcription	Spleen	Spleen
4	chr15:82332200-82335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:82332400-82335400	Weak transcription	HUVEC	blood vessel
6	chr15:82333000-82335400	Weak transcription	Right Ventricle	heart
7	chr15:82333000-82335400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:82333200-82335200	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:82333400-82335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:82333400-82335400	Weak transcription	Ovary	ovary
11	chr15:82333400-82335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:82333400-82335600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:82333400-82336000	Weak transcription	Osteobl	bone
14	chr15:82333600-82335200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:82333600-82335200	Weak transcription	Fetal Stomach	stomach
16	chr15:82333600-82335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:82333600-82335400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:82333600-82335400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:82333600-82335400	Weak transcription	Gastric	stomach
20	chr15:82333600-82335400	Weak transcription	Left Ventricle	heart
21	chr15:82333600-82335400	Weak transcription	Pancreas	Pancrea
22	chr15:82333600-82335400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:82333600-82335600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:82333600-82335600	Weak transcription	Brain Anterior Caudate	brain
25	chr15:82333600-82336400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:82333600-82336400	Weak transcription	Right Atrium	heart
27	chr15:82333600-82336600	Weak transcription	Psoas Muscle	Psoas
28	chr15:82333600-82336600	Weak transcription	A549	lung
29	chr15:82333800-82335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:82333800-82335200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:82333800-82335200	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:82333800-82335200	Strong transcription	NH-A	brain
33	chr15:82333800-82335400	Weak transcription	Dnd41	blood
34	chr15:82333800-82335400	Strong transcription	HSMM	muscle
35	chr15:82334000-82336000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:82334200-82335400	Weak transcription	NHLF	lung
37	chr15:82334200-82336400	Weak transcription	NHDF-Ad	bronchial
38	chr15:82334200-82336600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
39	chr15:82334400-82335400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:82334400-82335800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:82334400-82336000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:82334800-82335200	Genic enhancers	Primary hematopoietic stem cells	blood
43	chr15:82334800-82335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:82334800-82335200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr15:82334800-82335400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:82334800-82337000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:82334800-82337400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
48	chr15:82335000-82335200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr15:82335000-82335200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:82335000-82335200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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