Variant report

Variant	rs3214842
Chromosome Location	chr15:41246238-41246239
allele	-/CT/TC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr15:41244829-41246248	H1-neurons	neurons:	n/a	chr15:41245517-41245530 chr15:41245604-41245617 chr15:41245601-41245614
2	POLR2A	chr15:41244087-41246309	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr15:41244687-41246812	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr15:41246218-41246403	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:41246189-41246542	U87	brain:	n/a	n/a
6	POLR2A	chr15:41244822-41246504	PBDE	blood:	n/a	n/a
7	POLR2A	chr15:41244697-41246315	GM19193	blood:	n/a	n/a
8	POLR2A	chr15:41246061-41246725	U87	brain:	n/a	n/a
9	POLR2A	chr15:41244660-41246865	PFSK-1	brain:	n/a	n/a
10	MAZ	chr15:41244832-41246688	IMR90	lung:	n/a	chr15:41245041-41245050
11	POLR2A	chr15:41244897-41246577	GM18505	blood:	n/a	n/a
12	TAF7	chr15:41244765-41246828	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:41244495-41246332	GM12892	blood:	n/a	n/a
14	POLR2A	chr15:41244585-41246933	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:41244621-41246297	MCF-7	breast:	n/a	n/a
16	ATF2	chr15:41246192-41246861	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:41244764-41246290	HCT-116	colon:	n/a	n/a
18	SIN3A	chr15:41244716-41246763	H1-hESC	embryonic stem cell:	n/a	chr15:41245601-41245614
19	MXI1	chr15:41244726-41246877	IMR90	lung:	n/a	n/a
20	CHD1	chr15:41245664-41246716	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr15:41244759-41246291	ECC-1	luminal epithelium:	n/a	n/a
22	MXI1	chr15:41244769-41246805	SK-N-SH	brain:	n/a	n/a
23	SIN3AK20	chr15:41245518-41246360	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr15:41244840-41246352	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:41244224-41246355	PANC-1	pancreas:	n/a	n/a
26	TEAD4	chr15:41244854-41246297	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr15:41244508-41246311	Raji	blood:	n/a	n/a
28	POLR2A	chr15:41244834-41246357	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:41244411-41246354	ECC-1	luminal epithelium:	n/a	n/a
30	HCFC1	chr15:41243714-41246867	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr15:41244907-41246502	H1-hESC	embryonic stem cell:	n/a	n/a
32	EP300	chr15:41244748-41246256	ECC-1	luminal epithelium:	n/a	chr15:41245598-41245614
33	POLR2A	chr15:41244269-41246945	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr15:41244838-41246327	K562	blood:	n/a	n/a
35	POLR2A	chr15:41244432-41246451	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:41245576-41246745	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr15:41244820-41246483	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:41243575..41247241-chr15:41275161..41277167,3	MCF-7	breast:
2	chr15:41245565..41247610-chr15:41522080..41523844,2	K562	blood:
3	chr15:41219948..41223850-chr15:41241031..41249080,13	K562	blood:
4	chr15:41196932..41200984-chr15:41244050..41248455,6	K562	blood:
5	chr15:41220084..41222525-chr15:41245007..41247668,2	MCF-7	breast:
6	chr15:41219573..41224863-chr15:41243808..41249661,11	MCF-7	breast:

No data

Variant related genes	Relation type
CHAC1	TF binding region
ENSG00000178997	Chromatin interaction
ENSG00000187446	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000128917	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	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv1794127	chr15:41245289-41276158	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41244400-41246600	Active TSS	Brain Angular Gyrus	brain
2	chr15:41244400-41246800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:41244400-41246800	Active TSS	Rectal Smooth Muscle	rectum
4	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:41244600-41246400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:41244600-41246400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr15:41244600-41246400	Flanking Active TSS	Liver	Liver
9	chr15:41244600-41246400	Flanking Active TSS	Colonic Mucosa	Colon
10	chr15:41244600-41246600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:41244600-41246800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr15:41244600-41246800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr15:41244600-41247200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:41244800-41246400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:41244800-41246400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:41244800-41246400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr15:41244800-41246600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr15:41244800-41246600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:41244800-41246600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr15:41244800-41246600	Active TSS	Brain Substantia Nigra	brain
21	chr15:41244800-41246600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr15:41244800-41246600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr15:41244800-41246600	Active TSS	NHDF-Ad	bronchial
24	chr15:41244800-41246800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr15:41245000-41246400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr15:41245000-41246400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr15:41245000-41246400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:41245000-41246400	Active TSS	Aorta	Aorta
29	chr15:41245000-41246400	Active TSS	Brain Cingulate Gyrus	brain
30	chr15:41245000-41246400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr15:41245000-41246600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr15:41245000-41246600	Active TSS	Stomach Mucosa	stomach
33	chr15:41245000-41246800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:41245200-41246400	Active TSS	Brain Hippocampus Middle	brain
35	chr15:41245200-41246600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:41245200-41246600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr15:41245200-41246600	Active TSS	K562	blood
38	chr15:41245200-41246800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:41245200-41246800	Active TSS	Muscle Satellite Cultured Cells	--
40	chr15:41245400-41246400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:41245400-41246400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:41245400-41246800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:41245600-41246400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr15:41245600-41246600	Flanking Active TSS	NH-A	brain
45	chr15:41245600-41246800	Flanking Active TSS	Dnd41	blood
46	chr15:41245800-41246400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr15:41245800-41246400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr15:41245800-41246400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:41245800-41246400	Enhancers	Fetal Heart	heart
50	chr15:41245800-41246400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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