Variant report

Variant	rs376511161
Chromosome Location	chr3:142681704-142681705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:142681424-142681971	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr3:142681630-142681795	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:142681583-142683285	PBDE	blood:	n/a	n/a
4	SETDB1	chr3:142680934-142682173	K562	blood:	n/a	n/a
5	MAX	chr3:142681242-142682221	H1-hESC	embryonic stem cell:	n/a	n/a
6	HMGN3	chr3:142681685-142683281	K562	blood:	n/a	n/a
7	POLR2A	chr3:142681486-142682063	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr3:142681543-142681857	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr3:142681102-142682892	H1-hESC	embryonic stem cell:	n/a	chr3:142682194-142682208 chr3:142682642-142682651 chr3:142682543-142682553 chr3:142682546-142682556 chr3:142682773-142682782
10	MAX	chr3:142681255-142682199	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr3:142681257-142683103	A549	lung:	n/a	chr3:142682825-142682834
12	MYC	chr3:142681698-142681861	MCF-7	breast:	n/a	n/a
13	POLR2A	chr3:142681425-142681981	MCF-7	breast:	n/a	n/a
14	E2F6	chr3:142681208-142682147	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:142681419-142681954	A549	lung:	n/a	n/a
16	MXI1	chr3:142681656-142682008	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142681704-142681754	BJ	skin:	n/a
2	chr3:142681704-142681754	HepG2	liver:	n/a
3	chr3:142681704-142681754	HPAEpiC	pulmonary alveolar:	n/a
4	chr3:142681704-142681754	H1-hESC	embryonic stem cell:	embryo
5	chr3:142681704-142681754	PANC-1	pancreas:	n/a
6	chr3:142681704-142681754	HAEpiC	amniotic membrane:	n/a
7	chr3:142681704-142681754	Caco-2	colon:	n/a
8	chr3:142681704-142681754	HNPCEpiC	eye:	n/a
9	chr3:142681704-142681754	RPTEC	kidney:	n/a
10	chr3:142681704-142681754	CMK	blood:	n/a
11	chr3:142681704-142681754	GM19239	blood:	n/a
12	chr3:142681704-142681754	HIPEpiC	eye:	n/a
13	chr3:142681704-142681754	HEEpiC	esophagus:	n/a
14	chr3:142681704-142681754	SKMC	muscle:	n/a
15	chr3:142681704-142681754	PrEC	prostate:	n/a
16	chr3:142681704-142681754	GM12892	blood:	n/a
17	chr3:142681704-142681754	SAEC	small airway:	n/a
18	chr3:142681704-142681754	Hela-S3	cervix:	n/a
19	chr3:142681704-142681754	HUVEC	blood vessel:	n/a
20	chr3:142681704-142681754	HEK293	kidney:	embryo
21	chr3:142681704-142681754	Jurkat	blood:	n/a
22	chr3:142681704-142681754	K562	blood:	n/a
23	chr3:142681704-142681754	HL-60	blood:	n/a
24	chr3:142681704-142681754	A549	lung:	n/a
25	chr3:142681704-142681754	PFSK-1	brain:	n/a
26	chr3:142681704-142681754	T-47D	breast:	n/a
27	chr3:142681704-142681754	AG09319	gingival:	n/a
28	chr3:142681704-142681754	LNCaP	prostate:	n/a
29	chr3:142681704-142681754	Hepatocyte	liver:	n/a
30	chr3:142681704-142681754	HCM	heart:	n/a
31	chr3:142681704-142681754	ECC-1	luminal epithelium:	n/a
32	chr3:142681704-142681754	HRPEpiC	eye:	n/a
33	chr3:142681704-142681754	ovcar-3	ovarian:	n/a
34	chr3:142681704-142681754	GM12891	blood:	n/a
35	chr3:142681704-142681754	ProgFib	skin:	n/a
36	chr3:142681704-142681754	AG09309	skin:	n/a
37	chr3:142681704-142681754	AG04449	skin:	fetal
38	chr3:142681704-142681754	IMR90	lung:	fetal
39	chr3:142681704-142681754	AG10803	skin:	n/a
40	chr3:142681704-142681754	SK-N-MC	brain:	n/a
41	chr3:142681704-142681754	HCF	heart:	n/a
42	chr3:142681704-142681754	NB4	blood:	n/a
43	chr3:142681704-142681754	BE2_C	brain:	n/a
44	chr3:142681704-142681754	HRCEpiC	kidney:	n/a
45	chr3:142681704-142681754	HCPEpiC	choroid plexus:	n/a
46	chr3:142681704-142681754	NT2-D1	testis:	n/a
47	chr3:142681704-142681754	GM12878	blood:	n/a
48	chr3:142681704-142681754	SK-N-SH_RA	brain:	n/a
49	chr3:142681704-142681754	U87	brain:	n/a
50	chr3:142681704-142681754	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142296891..142299259-chr3:142680803..142682548,2	K562	blood:

No data

Variant related genes	Relation type
PAQR9	TF binding region
ENSG00000241570	TF binding region
U2SURP	TF binding region
ENSG00000241570	CpG island
U2SURP	CpG island
PAQR9	CpG island
ENSG00000175054	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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3443662	chr3:142681287-142684135	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3388028	chr3:142681537-142683935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142679400-142682000	Flanking Active TSS	Liver	Liver
2	chr3:142679800-142681800	Weak transcription	K562	blood
3	chr3:142680600-142682000	Flanking Active TSS	HepG2	liver
4	chr3:142681000-142682000	ZNF genes & repeats	Pancreas	Pancrea
5	chr3:142681000-142683600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:142681200-142682000	Flanking Active TSS	Right Ventricle	heart
7	chr3:142681200-142682200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:142681400-142681800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:142681400-142681800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:142681400-142681800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:142681400-142681800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr3:142681400-142681800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
13	chr3:142681400-142681800	Genic enhancers	Right Atrium	heart
14	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:142681400-142682000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr3:142681400-142682000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr3:142681400-142682000	Bivalent Enhancer	Spleen	Spleen
19	chr3:142681400-142682200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:142681400-142683400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:142681400-142683600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:142681400-142683600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:142681400-142683600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr3:142681600-142681800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr3:142681600-142681800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:142681600-142681800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr3:142681600-142681800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
29	chr3:142681600-142681800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:142681600-142681800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr3:142681600-142681800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:142681600-142681800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:142681600-142681800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:142681600-142681800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:142681600-142681800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr3:142681600-142681800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:142681600-142681800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr3:142681600-142682000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr3:142681600-142682000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr3:142681600-142682000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr3:142681600-142682000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:142681600-142682000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
48	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr3:142681600-142682000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr3:142681600-142682000	Bivalent Enhancer	Esophagus	oesophagus

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