Variant report

Variant	rs75743821
Chromosome Location	chr15:73343580-73343581
allele	-/CCA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr15:73343338-73346187	H1-neurons	neurons:	n/a	chr15:73344978-73344996 chr15:73343999-73344012 chr15:73343713-73343723 chr15:73345747-73345760
2	NRF1	chr15:73343440-73345937	SK-N-SH	brain:	n/a	chr15:73343975-73343984 chr15:73344378-73344387 chr15:73344016-73344025 chr15:73344809-73344818
3	POLR2A	chr15:73343527-73344578	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr15:73342653-73346307	SK-N-SH	brain:	n/a	n/a
5	STAT3	chr15:73343494-73343694	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3AK20	chr15:73343543-73346163	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:73343495-73343590	HepG2	liver:	n/a	n/a
8	TCF12	chr15:73343490-73344721	A549	lung:	n/a	chr15:73344193-73344200 chr15:73343527-73343534

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73343567-73343617	RPTEC	kidney:	n/a
2	chr15:73343567-73343617	NHBE	bronchial:	n/a
3	chr15:73343567-73343617	BE2_C	brain:	n/a
4	chr15:73343567-73343617	GM12878	blood:	n/a
5	chr15:73343567-73343617	BJ	skin:	n/a
6	chr15:73343567-73343617	H1-hESC	embryonic stem cell:	embryo
7	chr15:73343567-73343617	NH-A	brain:	n/a
8	chr15:73343567-73343617	Hepatocyte	liver:	n/a
9	chr15:73343567-73343617	HCM	heart:	n/a
10	chr15:73343567-73343617	A549	lung:	n/a
11	chr15:73343567-73343617	MCF10A-Er-Src	breast:	n/a
12	chr15:73343567-73343617	IMR90	lung:	fetal
13	chr15:73343567-73343617	HepG2	liver:	n/a
14	chr15:73343567-73343617	SK-N-MC	brain:	n/a
15	chr15:73343567-73343617	HRCEpiC	kidney:	n/a
16	chr15:73343567-73343617	HRE	kidney:	n/a
17	chr15:73343567-73343617	K562	blood:	n/a
18	chr15:73343567-73343617	CMK	blood:	n/a
19	chr15:73343567-73343617	SK-N-SH_RA	brain:	n/a
20	chr15:73343567-73343617	NB4	blood:	n/a
21	chr15:73343567-73343617	HPAEpiC	pulmonary alveolar:	n/a
22	chr15:73343567-73343617	HEEpiC	esophagus:	n/a
23	chr15:73343567-73343617	HUVEC	blood vessel:	n/a
24	chr15:73343567-73343617	U87	brain:	n/a
25	chr15:73343567-73343617	SAEC	small airway:	n/a
26	chr15:73343567-73343617	AG04450	lung:	fetal
27	chr15:73343567-73343617	AoSMC	blood vessel:	n/a
28	chr15:73343567-73343617	HEK293	kidney:	embryo
29	chr15:73343567-73343617	HCT-116	colon:	n/a
30	chr15:73343567-73343617	AG09309	skin:	n/a
31	chr15:73343567-73343617	GM19239	blood:	n/a
32	chr15:73343567-73343617	PFSK-1	brain:	n/a
33	chr15:73343567-73343617	HL-60	blood:	n/a
34	chr15:73343567-73343617	GM12892	blood:	n/a
35	chr15:73343567-73343617	AG09319	gingival:	n/a
36	chr15:73343567-73343617	NHDF-neo	bronchial:	n/a
37	chr15:73343567-73343617	GM12891	blood:	n/a
38	chr15:73343567-73343617	HNPCEpiC	eye:	n/a
39	chr15:73343567-73343617	Jurkat	blood:	n/a
40	chr15:73343567-73343617	T-47D	breast:	n/a
41	chr15:73343567-73343617	HAEpiC	amniotic membrane:	n/a
42	chr15:73343567-73343617	Hela-S3	cervix:	n/a
43	chr15:73343567-73343617	LNCaP	prostate:	n/a
44	chr15:73343567-73343617	MCF-7	breast:	n/a
45	chr15:73343567-73343617	ECC-1	luminal epithelium:	n/a
46	chr15:73343567-73343617	Caco-2	colon:	n/a
47	chr15:73343567-73343617	HIPEpiC	eye:	n/a
48	chr15:73343567-73343617	GM06990	blood:	n/a
49	chr15:73343567-73343617	PrEC	prostate:	n/a
50	chr15:73343567-73343617	NT2-D1	testis:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:73075212..73078087-chr15:73342810..73345457,4	MCF-7	breast:
2	chr15:72765203..72766825-chr15:73342381..73345092,2	MCF-7	breast:
3	chr15:73074691..73078350-chr15:73341676..73346479,5	MCF-7	breast:

No data

Variant related genes	Relation type
NEO1	TF binding region
NEO1	CpG island
ENSG00000166233	Chromatin interaction
ENSG00000260898	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000159322	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	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3438792	chr15:73343424-73346772	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73339400-73343600	Weak transcription	Pancreas	Pancrea
2	chr15:73342000-73343600	Weak transcription	Fetal Stomach	stomach
3	chr15:73342600-73343600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:73343000-73346000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:73343200-73343600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:73343200-73343600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:73343200-73343600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:73343200-73343600	Flanking Active TSS	Fetal Brain Female	brain
9	chr15:73343200-73343600	Enhancers	Fetal Heart	heart
10	chr15:73343200-73343600	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr15:73343200-73343600	Enhancers	Rectal Smooth Muscle	rectum
12	chr15:73343200-73343600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr15:73343200-73343600	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr15:73343200-73343800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:73343200-73343800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:73343200-73343800	Flanking Active TSS	Fetal Lung	lung
17	chr15:73343200-73343800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr15:73343200-73344000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:73343200-73345800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr15:73343200-73346000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr15:73343200-73346000	Active TSS	Brain Anterior Caudate	brain
22	chr15:73343200-73346200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr15:73343200-73346400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr15:73343200-73346400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:73343200-73346400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:73343200-73346600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr15:73343200-73347600	Active TSS	Colonic Mucosa	Colon
28	chr15:73343400-73343600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr15:73343400-73343600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr15:73343400-73343600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr15:73343400-73343600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr15:73343400-73343600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:73343400-73343600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr15:73343400-73343600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:73343400-73343600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr15:73343400-73343600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr15:73343400-73343600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:73343400-73343600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr15:73343400-73343600	Enhancers	Brain Substantia Nigra	brain
40	chr15:73343400-73343600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr15:73343400-73343600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr15:73343400-73343600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr15:73343400-73343600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr15:73343400-73343600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr15:73343400-73343600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr15:73343400-73343600	Active TSS	HMEC	breast
47	chr15:73343400-73343800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:73343400-73343800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:73343400-73343800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:73343400-73343800	Flanking Active TSS	Adipose Nuclei	Adipose

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