Variant report

Variant	rs375350176
Chromosome Location	chr15:77223470-77223471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYA	chr15:77223453-77224160	K562	blood:	n/a	chr15:77223911-77223925
2	POLR2A	chr15:77223038-77224468	PBDE	blood:	n/a	n/a
3	REST	chr15:77223342-77225196	H1-neurons	neurons:	n/a	chr15:77224116-77224129 chr15:77224361-77224374
4	POLR2A	chr15:77223429-77224507	HUVEC	blood vessel:	n/a	n/a
5	TCF12	chr15:77223469-77224394	ECC-1	luminal epithelium:	n/a	chr15:77223932-77223942
6	POLR2A	chr15:77223261-77224356	K562	blood:	n/a	n/a
7	REST	chr15:77223287-77224081	A549	lung:	n/a	n/a
8	POLR2A	chr15:77223470-77225149	H1-hESC	embryonic stem cell:	n/a	n/a
9	HEY1	chr15:77223448-77224369	HepG2	liver:	n/a	chr15:77223895-77223910
10	MAX	chr15:77223182-77224863	NB4	blood:	n/a	n/a
11	MAZ	chr15:77223145-77224880	K562	blood:	n/a	n/a
12	MAX	chr15:77223176-77224702	A549	lung:	n/a	n/a
13	POLR2A	chr15:77223399-77224450	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr15:77223415-77224007	GM12878	blood:	n/a	n/a
15	PML	chr15:77223467-77224401	MCF-7	breast:	n/a	n/a
16	POLR2A	chr15:77223347-77224411	GM18505	blood:	n/a	n/a
17	TAF1	chr15:77223441-77224106	A549	lung:	n/a	n/a
18	POLR2A	chr15:77223221-77224326	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:77223335-77224918	HepG2	liver:	n/a	n/a
20	KAP1	chr15:77223152-77223940	U2OS	brain:	n/a	n/a
21	MXI1	chr15:77222897-77225264	SK-N-SH	brain:	n/a	n/a
22	ARID3A	chr15:77223253-77223963	HepG2	liver:	n/a	n/a
23	RFX5	chr15:77223200-77224256	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:77223248-77224276	GM12891	blood:	n/a	n/a
25	POLR2A	chr15:77223221-77224312	K562	blood:	n/a	n/a
26	MAZ	chr15:77223303-77224873	IMR90	lung:	n/a	n/a
27	POLR2A	chr15:77223271-77224388	K562	blood:	n/a	n/a
28	TAF7	chr15:77223442-77224609	H1-hESC	embryonic stem cell:	n/a	n/a
29	KAP1	chr15:77223429-77224374	HEK293	kidney:	n/a	n/a
30	BRCA1	chr15:77223455-77224158	Hela-S3	cervix:	n/a	n/a
31	MTA3	chr15:77223353-77223977	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:77223451-77224498	ProgFib	skin:	n/a	n/a
33	TBP	chr15:77223390-77224048	GM12878	blood:	n/a	n/a
34	IRF1	chr15:77223443-77224298	K562	blood:	n/a	chr15:77224043-77224057
35	POLR2A	chr15:77223309-77224946	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr15:77223335-77224349	Hela-S3	cervix:	n/a	n/a
37	MAFK	chr15:77223257-77224324	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:77223332-77224498	MCF-7	breast:	n/a	n/a
39	POLR2A	chr15:77223181-77224590	PFSK-1	brain:	n/a	n/a
40	NFYB	chr15:77223296-77224164	Hela-S3	cervix:	n/a	chr15:77223911-77223925
41	JUND	chr15:77223417-77224219	K562	blood:	n/a	n/a
42	POLR2A	chr15:77223201-77224638	NB4	blood:	n/a	n/a
43	NFYA	chr15:77222739-77224312	Hela-S3	cervix:	n/a	chr15:77223911-77223925
44	TCF12	chr15:77223268-77224245	A549	lung:	n/a	chr15:77223932-77223942
45	SIN3AK20	chr15:77223313-77225005	MCF-7	breast:	n/a	n/a
46	TBP	chr15:77223350-77224110	Hela-S3	cervix:	n/a	n/a
47	NFYB	chr15:77223467-77224349	GM12878	blood:	n/a	chr15:77223911-77223925
48	POLR2A	chr15:77222994-77224881	HepG2	liver:	n/a	n/a
49	CUX1	chr15:77223457-77223793	K562	blood:	n/a	n/a
50	SIN3AK20	chr15:77223457-77224381	HCT-116	colon:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77195051..77197848-chr15:77221697..77224553,2	MCF-7	breast:
2	chr15:77222222..77225627-chr15:77232795..77236028,3	K562	blood:
3	chr15:77194744..77199863-chr15:77220881..77225601,7	MCF-7	breast:
4	chr15:77196182..77198169-chr15:77222869..77226186,3	K562	blood:
5	chr15:77196272..77198559-chr15:77223364..77225357,2	K562	blood:
6	chr15:77223331..77224220-chr6:31795445..31796173,2	NB4	blood:
7	chr15:77213948..77217003-chr15:77220696..77223782,5	K562	blood:
8	chr15:77209000..77210645-chr15:77221529..77223671,2	K562	blood:
9	chr15:77208994..77210693-chr15:77221866..77223836,2	MCF-7	breast:

No data

Variant related genes	Relation type
RCN2	TF binding region
ENSG00000140386	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000117906	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	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3351542	chr15:77223247-77225445	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77221600-77223600	Weak transcription	Left Ventricle	heart
2	chr15:77223000-77223600	Flanking Active TSS	A549	lung
3	chr15:77223000-77223600	Flanking Active TSS	K562	blood
4	chr15:77223000-77223800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:77223000-77223800	Flanking Active TSS	Hela-S3	cervix
6	chr15:77223200-77223600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:77223200-77223600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:77223200-77223600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:77223200-77223600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:77223200-77223600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:77223200-77223600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr15:77223200-77223600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr15:77223200-77223600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr15:77223200-77223600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:77223200-77223600	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr15:77223200-77223600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr15:77223200-77223600	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr15:77223200-77223600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr15:77223200-77223600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr15:77223200-77223600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr15:77223200-77223600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr15:77223200-77223600	Flanking Active TSS	Fetal Lung	lung
23	chr15:77223200-77223600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr15:77223200-77223600	Enhancers	Small Intestine	intestine
25	chr15:77223200-77223600	Flanking Active TSS	HepG2	liver
26	chr15:77223200-77223600	Flanking Active TSS	NHDF-Ad	bronchial
27	chr15:77223200-77223600	Flanking Active TSS	Osteobl	bone
28	chr15:77223200-77223800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:77223200-77223800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr15:77223200-77223800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:77223200-77223800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:77223200-77223800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr15:77223200-77223800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:77223200-77223800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:77223200-77223800	Flanking Active TSS	Dnd41	blood
36	chr15:77223200-77223800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr15:77223200-77223800	Flanking Active TSS	NHEK	skin
38	chr15:77223200-77224400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr15:77223200-77224600	Active TSS	HSMMtube	muscle
40	chr15:77223200-77225000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:77223200-77225000	Active TSS	Colonic Mucosa	Colon
42	chr15:77223200-77225200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr15:77223400-77223600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:77223400-77223600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr15:77223400-77223600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr15:77223400-77223600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:77223400-77223600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:77223400-77223600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr15:77223400-77223600	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr15:77223400-77223600	Flanking Active TSS	Colon Smooth Muscle	Colon

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