Variant report

Variant	rs6719380
Chromosome Location	chr2:115919028-115919029
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr2:115918518-115919187	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr2:115918445-115919040	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918994 chr2:115918984-115918993 chr2:115918983-115918993 chr2:115918979-115918993 chr2:115918984-115918993 chr2:115918982-115918994 chr2:115918983-115918993 chr2:115918983-115918992 chr2:115918833-115918844
3	RAD21	chr2:115918629-115919031	H1-hESC	embryonic stem cell:	n/a	chr2:115918976-115918990
4	RFX5	chr2:115918677-115919034	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr2:115918634-115919032	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115918954-115918968
6	JUND	chr2:115918652-115919066	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115919056-115919065 chr2:115918954-115918968
7	BACH1	chr2:115918502-115919163	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr2:115918552-115919037	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918992
9	MAX	chr2:115918126-115919369	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
10	SP1	chr2:115918457-115919172	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918994 chr2:115918984-115918993 chr2:115918983-115918993 chr2:115918979-115918993 chr2:115918984-115918993 chr2:115918982-115918994 chr2:115918983-115918993 chr2:115919056-115919069 chr2:115918983-115918992 chr2:115918833-115918844
11	E2F6	chr2:115917958-115919412	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919401-115919410
12	YY1	chr2:115918637-115919201	HepG2	liver:	n/a	chr2:115919088-115919102 chr2:115918983-115918992
13	MAX	chr2:115918095-115919702	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
14	JUND	chr2:115918778-115919073	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115919056-115919065 chr2:115918954-115918968
15	E2F6	chr2:115918091-115919655	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919616-115919626 chr2:115919401-115919410
16	POLR2A	chr2:115918876-115919374	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:115919009-115919059	GM19239	blood:	n/a
2	chr2:115919006-115919056	NH-A	brain:	n/a
3	chr2:115919009-115919059	HEEpiC	esophagus:	n/a
4	chr2:115919006-115919056	MCF-7	breast:	n/a
5	chr2:115919009-115919059	PrEC	prostate:	n/a
6	chr2:115919009-115919059	GM12891	blood:	n/a
7	chr2:115919006-115919056	AG09319	gingival:	n/a
8	chr2:115919006-115919056	HEEpiC	esophagus:	n/a
9	chr2:115919006-115919056	ProgFib	skin:	n/a
10	chr2:115919006-115919056	PrEC	prostate:	n/a
11	chr2:115919009-115919059	GM12878	blood:	n/a
12	chr2:115919006-115919056	HRCEpiC	kidney:	n/a
13	chr2:115919009-115919059	GM12892	blood:	n/a
14	chr2:115919009-115919059	AG10803	skin:	n/a
15	chr2:115919006-115919056	AG04450	lung:	fetal
16	chr2:115919009-115919059	AoSMC	blood vessel:	n/a
17	chr2:115919009-115919059	HCPEpiC	choroid plexus:	n/a
18	chr2:115919006-115919056	HCT-116	colon:	n/a
19	chr2:115919009-115919059	HRE	kidney:	n/a
20	chr2:115919006-115919056	ECC-1	luminal epithelium:	n/a
21	chr2:115919006-115919056	HUVEC	blood vessel:	n/a
22	chr2:115919006-115919056	BE2_C	brain:	n/a
23	chr2:115919009-115919059	LNCaP	prostate:	n/a
24	chr2:115919009-115919059	BE2_C	brain:	n/a
25	chr2:115919009-115919059	Hela-S3	cervix:	n/a
26	chr2:115919009-115919059	ovcar-3	ovarian:	n/a
27	chr2:115919009-115919059	HCM	heart:	n/a
28	chr2:115919006-115919056	A549	lung:	n/a
29	chr2:115919009-115919059	T-47D	breast:	n/a
30	chr2:115919009-115919059	AG09309	skin:	n/a
31	chr2:115919006-115919056	LNCaP	prostate:	n/a
32	chr2:115919006-115919056	AG04449	skin:	fetal
33	chr2:115919006-115919056	NHDF-neo	bronchial:	n/a
34	chr2:115919006-115919056	SK-N-SH	brain:	n/a
35	chr2:115919006-115919056	GM12878	blood:	n/a
36	chr2:115919009-115919059	BJ	skin:	n/a
37	chr2:115919009-115919059	HEK293	kidney:	embryo
38	chr2:115919006-115919056	MCF10A-Er-Src	breast:	n/a
39	chr2:115919009-115919059	AG04449	skin:	fetal
40	chr2:115919009-115919059	SK-N-MC	brain:	n/a
41	chr2:115919009-115919059	H1-hESC	embryonic stem cell:	embryo
42	chr2:115919006-115919056	HCPEpiC	choroid plexus:	n/a
43	chr2:115919009-115919059	HCF	heart:	n/a
44	chr2:115919006-115919056	HCF	heart:	n/a
45	chr2:115919009-115919059	Jurkat	blood:	n/a
46	chr2:115919006-115919056	SAEC	small airway:	n/a
47	chr2:115919006-115919056	NHBE	bronchial:	n/a
48	chr2:115919009-115919059	NB4	blood:	n/a
49	chr2:115919006-115919056	Jurkat	blood:	n/a
50	chr2:115919009-115919059	HRPEpiC	eye:	n/a

Variant related genes	Relation type
DPP10-AS1	TF binding region
DPP10	TF binding region
DPP10	CpG island
DPP10-AS1	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12622564	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6738642	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014713	chr2:115858427-116018055	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3404972	chr2:115918007-115920855	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3387285	chr2:115918207-115920805	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115918000-115919800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:115918000-115920000	Active TSS	Brain Angular Gyrus	brain
3	chr2:115918000-115920000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:115918000-115920600	Active TSS	Rectal Smooth Muscle	rectum
5	chr2:115918000-115920800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:115918000-115920800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:115918000-115921200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:115918200-115919800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:115918200-115919800	Active TSS	Colonic Mucosa	Colon
10	chr2:115918200-115920000	Active TSS	Fetal Brain Female	brain
11	chr2:115918200-115920200	Active TSS	Gastric	stomach
12	chr2:115918200-115920400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr2:115918200-115920400	Active TSS	Brain Anterior Caudate	brain
14	chr2:115918200-115920400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:115918200-115920800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:115918200-115921200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:115918400-115919200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr2:115918400-115919600	Bivalent/Poised TSS	Thymus	Thymus
19	chr2:115918400-115919800	Active TSS	Brain Substantia Nigra	brain
20	chr2:115918400-115920000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:115918400-115920000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:115918400-115920000	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr2:115918400-115920200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:115918400-115920600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:115918600-115919200	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr2:115918600-115919200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:115918600-115919400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:115918600-115919400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr2:115918600-115919800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:115918600-115919800	Active TSS	Fetal Intestine Large	intestine
31	chr2:115918600-115919800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr2:115918600-115920000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:115918600-115920000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr2:115918600-115920000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:115918600-115920000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:115918600-115920000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr2:115918600-115920000	Active TSS	Fetal Intestine Small	intestine
38	chr2:115918600-115920000	Active TSS	Fetal Kidney	kidney
39	chr2:115918600-115920200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:115918600-115920200	Active TSS	Brain Cingulate Gyrus	brain
41	chr2:115918600-115920600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr2:115918600-115920800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:115918600-115921000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:115918600-115921000	Active TSS	Pancreas	Pancrea
45	chr2:115918800-115919200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:115918800-115919400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:115918800-115919400	Bivalent/Poised TSS	Lung	lung
48	chr2:115918800-115919600	Bivalent/Poised TSS	Right Ventricle	heart
49	chr2:115918800-115919600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr2:115918800-115919800	Active TSS	Brain Hippocampus Middle	brain

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