Variant report

Variant	rs7342642
Chromosome Location	chr15:41098897-41098898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr15:41098708-41100478	K562	blood:	n/a	n/a
2	POLR2A	chr15:41098835-41100106	HCT-116	colon:	n/a	n/a
3	MAX	chr15:41098859-41100205	Hela-S3	cervix:	n/a	chr15:41099304-41099314
4	POLR2A	chr15:41098849-41100262	PFSK-1	brain:	n/a	n/a
5	CBX3	chr15:41098799-41100368	K562	blood:	n/a	n/a
6	TBP	chr15:41098884-41100047	GM12878	blood:	n/a	n/a
7	SREBP1	chr15:41098583-41101657	GM12878	blood:	n/a	n/a
8	WRNIP1	chr15:41098892-41100197	GM12878	blood:	n/a	n/a
9	REST	chr15:41098659-41100452	H1-neurons	neurons:	n/a	chr15:41099298-41099311
10	E2F6	chr15:41098871-41099135	K562	blood:	n/a	n/a
11	MAX	chr15:41098788-41100300	ECC-1	luminal epithelium:	n/a	chr15:41099304-41099314
12	POLR2A	chr15:41098868-41100713	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:41098847-41100335	U87	brain:	n/a	n/a
14	MAX	chr15:41098889-41100129	A549	lung:	n/a	chr15:41099304-41099314
15	POLR2A	chr15:41098896-41100481	Raji	blood:	n/a	n/a
16	POLR2A	chr15:41098840-41100280	HUVEC	blood vessel:	n/a	n/a
17	PML	chr15:41098827-41100418	GM12878	blood:	n/a	n/a
18	ELK4	chr15:41098826-41100146	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:41098788-41099948	GM12892	blood:	n/a	n/a
20	E2F6	chr15:41098866-41100293	K562	blood:	n/a	chr15:41099264-41099273
21	POLR2A	chr15:41098817-41100342	SK-N-MC	brain:	n/a	n/a
22	IRF1	chr15:41098896-41100065	K562	blood:	n/a	chr15:41099068-41099082
23	POLR2A	chr15:41098883-41100156	GM18505	blood:	n/a	n/a
24	MAX	chr15:41098892-41100299	SK-N-SH	brain:	n/a	chr15:41099304-41099314
25	MAX	chr15:41098881-41100374	ECC-1	luminal epithelium:	n/a	chr15:41099304-41099314
26	POLR2A	chr15:41098797-41100242	GM12892	blood:	n/a	n/a
27	POLR2A	chr15:41098810-41100244	GM12878	blood:	n/a	n/a
28	MYC	chr15:41098851-41100112	K562	blood:	n/a	chr15:41099304-41099314
29	MTA3	chr15:41098837-41099321	GM12878	blood:	n/a	n/a
30	MAX	chr15:41098823-41100329	K562	blood:	n/a	chr15:41099304-41099314
31	SMARCC1	chr15:41098811-41100490	Hela-S3	cervix:	n/a	chr15:41099667-41099676
32	MAX	chr15:41098796-41100654	A549	lung:	n/a	chr15:41099304-41099314
33	NR2F2	chr15:41098712-41100234	K562	blood:	n/a	n/a
34	MXI1	chr15:41098849-41099033	H1-hESC	embryonic stem cell:	n/a	n/a
35	HCFC1	chr15:41098689-41102091	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:41098883-41100445	GM12891	blood:	n/a	n/a
37	STAT5A	chr15:41098793-41100124	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:41098744-41100281	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr15:41098872-41100158	PBDE	blood:	n/a	n/a
40	MAX	chr15:41098856-41100414	NB4	blood:	n/a	chr15:41099304-41099314
41	POLR2A	chr15:41098847-41100187	U87	brain:	n/a	n/a
42	POLR2A	chr15:41098868-41100226	K562	blood:	n/a	n/a
43	POLR2A	chr15:41098874-41100268	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41098847-41098897	NB4	blood:	n/a
2	chr15:41098847-41098897	BE2_C	brain:	n/a
3	chr15:41098847-41098897	PANC-1	pancreas:	n/a
4	chr15:41098847-41098897	HCF	heart:	n/a
5	chr15:41098847-41098897	NH-A	brain:	n/a
6	chr15:41098847-41098897	HRCEpiC	kidney:	n/a
7	chr15:41098847-41098897	HNPCEpiC	eye:	n/a
8	chr15:41098847-41098897	K562	blood:	n/a
9	chr15:41098847-41098897	SKMC	muscle:	n/a
10	chr15:41098847-41098897	HCPEpiC	choroid plexus:	n/a
11	chr15:41098847-41098897	BJ	skin:	n/a
12	chr15:41098847-41098897	NHBE	bronchial:	n/a
13	chr15:41098847-41098897	GM19239	blood:	n/a
14	chr15:41098847-41098897	HMEC	breast:	n/a
15	chr15:41098847-41098897	AG04449	skin:	fetal
16	chr15:41098847-41098897	LNCaP	prostate:	n/a
17	chr15:41098847-41098897	GM12878	blood:	n/a
18	chr15:41098847-41098897	RPTEC	kidney:	n/a
19	chr15:41098847-41098897	HepG2	liver:	n/a
20	chr15:41098847-41098897	HAEpiC	amniotic membrane:	n/a
21	chr15:41098847-41098897	HL-60	blood:	n/a
22	chr15:41098847-41098897	MCF10A-Er-Src	breast:	n/a
23	chr15:41098847-41098897	GM12891	blood:	n/a
24	chr15:41098847-41098897	HCT-116	colon:	n/a
25	chr15:41098847-41098897	HPAEpiC	pulmonary alveolar:	n/a
26	chr15:41098847-41098897	Jurkat	blood:	n/a
27	chr15:41098847-41098897	HIPEpiC	eye:	n/a
28	chr15:41098847-41098897	Hepatocyte	liver:	n/a
29	chr15:41098847-41098897	HCM	heart:	n/a
30	chr15:41098847-41098897	Hela-S3	cervix:	n/a
31	chr15:41098847-41098897	AG10803	skin:	n/a
32	chr15:41098847-41098897	HEEpiC	esophagus:	n/a
33	chr15:41098847-41098897	AG09319	gingival:	n/a
34	chr15:41098847-41098897	SK-N-MC	brain:	n/a
35	chr15:41098847-41098897	PrEC	prostate:	n/a
36	chr15:41098847-41098897	SAEC	small airway:	n/a
37	chr15:41098847-41098897	IMR90	lung:	fetal
38	chr15:41098847-41098897	Caco-2	colon:	n/a
39	chr15:41098847-41098897	U87	brain:	n/a
40	chr15:41098847-41098897	SK-N-SH_RA	brain:	n/a
41	chr15:41098847-41098897	ProgFib	skin:	n/a
42	chr15:41098847-41098897	HRE	kidney:	n/a
43	chr15:41098847-41098897	T-47D	breast:	n/a
44	chr15:41098847-41098897	GM06990	blood:	n/a
45	chr15:41098847-41098897	ECC-1	luminal epithelium:	n/a
46	chr15:41098847-41098897	HEK293	kidney:	embryo
47	chr15:41098847-41098897	ovcar-3	ovarian:	n/a
48	chr15:41098847-41098897	NT2-D1	testis:	n/a
49	chr15:41098847-41098897	A549	lung:	n/a
50	chr15:41098847-41098897	AG09309	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41045748..41048901-chr15:41096709..41101394,9	K562	blood:
2	chr15:41098203..41099826-chr15:41186017..41187981,2	K562	blood:
3	chr15:41068398..41070390-chr15:41097835..41100828,2	K562	blood:
4	chr15:41053870..41057648-chr15:41097391..41099914,3	K562	blood:
5	chr15:41054213..41057951-chr15:41097645..41100150,5	K562	blood:
6	chr15:41068210..41071185-chr15:41097995..41100691,2	MCF-7	breast:
7	chr15:41098123..41102222-chr15:41134582..41138137,4	K562	blood:
8	chr15:41098099..41100613-chr15:41185742..41188181,3	K562	blood:
9	chr15:41095442..41103026-chr15:41134658..41140625,11	MCF-7	breast:
10	chr15:41098827..41099580-chr18:11851185..11852024,2	Hela-S3	cervix:
11	chr15:41097893..41103310-chr15:41103796..41109268,7	MCF-7	breast:
12	chr15:41098435..41103357-chr15:41133527..41139132,10	MCF-7	breast:

No data

Variant related genes	Relation type
ZFYVE19	TF binding region
ZFYVE19	CpG island
ENSG00000137880	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000104129	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv3312254	chr15:41098700-41100323	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3312255	chr15:41098714-41100320	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 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	chr15:41080000-41099000	Weak transcription	Aorta	Aorta
2	chr15:41096000-41099000	Weak transcription	Ovary	ovary
3	chr15:41098400-41099000	Weak transcription	Spleen	Spleen
4	chr15:41098600-41099000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:41098600-41099000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:41098600-41099000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:41098600-41099000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr15:41098600-41099000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:41098600-41099000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:41098600-41099000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr15:41098600-41099000	Flanking Active TSS	HepG2	liver
12	chr15:41098600-41099200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:41098600-41099200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr15:41098600-41099200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr15:41098600-41099200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:41098600-41099200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr15:41098600-41099200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:41098600-41099200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:41098600-41099200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr15:41098600-41099200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr15:41098600-41099200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr15:41098600-41099200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr15:41098600-41099200	Flanking Active TSS	Fetal Brain Female	brain
24	chr15:41098600-41099200	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr15:41098600-41099200	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr15:41098600-41099200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr15:41098600-41099200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr15:41098600-41099200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr15:41098600-41099200	Flanking Active TSS	Dnd41	blood
30	chr15:41098600-41099200	Flanking Active TSS	GM12878-XiMat	blood
31	chr15:41098600-41099200	Flanking Active TSS	K562	blood
32	chr15:41098600-41099200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr15:41098600-41099400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:41098600-41099600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:41098600-41099600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:41098600-41100000	Active TSS	Rectal Smooth Muscle	rectum
37	chr15:41098600-41100600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:41098600-41100600	Active TSS	A549	lung
39	chr15:41098600-41100600	Active TSS	HSMM	muscle
40	chr15:41098600-41100800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:41098800-41099000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr15:41098800-41099000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:41098800-41099000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:41098800-41099000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:41098800-41099000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:41098800-41099000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr15:41098800-41099000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr15:41098800-41099000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:41098800-41099000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr15:41098800-41099000	Flanking Active TSS	Colon Smooth Muscle	Colon

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