Variant report

Variant	rs376619461
Chromosome Location	chr2:73113980-73113981
allele	A/G
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	MAX	chr2:73113794-73115311	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr2:73113875-73115501	A549	lung:	n/a	n/a
3	EP300	chr2:73113667-73114009	Hela-S3	cervix:	n/a	n/a
4	MAX	chr2:73113929-73115468	HCT-116	colon:	n/a	n/a
5	CEBPB	chr2:73113642-73114020	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:73113576-73114091	ECC-1	luminal epithelium:	n/a	n/a
7	MXI1	chr2:73113776-73114280	H1-hESC	embryonic stem cell:	n/a	chr2:73113862-73113877
8	CEBPB	chr2:73113516-73114346	A549	lung:	n/a	n/a
9	MAX	chr2:73113936-73115352	ECC-1	luminal epithelium:	n/a	n/a
10	GTF2F1	chr2:73113814-73114583	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:73113971-73114723	HepG2	liver:	n/a	n/a
12	E2F6	chr2:73113964-73115391	A549	lung:	n/a	chr2:73114303-73114313
13	CEBPB	chr2:73113492-73114201	MCF-7	breast:	n/a	n/a
14	GATA2	chr2:73113912-73115219	SH-SY5Y	brain:	n/a	n/a
15	MAX	chr2:73113614-73115363	MCF-7	breast:	n/a	n/a
16	CEBPB	chr2:73113640-73114082	K562	blood:	n/a	n/a
17	SMARCC1	chr2:73113813-73115189	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:73113660-73114018	IMR90	lung:	n/a	n/a
19	CEBPB	chr2:73113636-73114023	A549	lung:	n/a	n/a
20	TBP	chr2:73113743-73114507	Hela-S3	cervix:	n/a	n/a
21	HCFC1	chr2:73113820-73115790	Hela-S3	cervix:	n/a	n/a
22	SP1	chr2:73113872-73115444	A549	lung:	n/a	chr2:73114490-73114504 chr2:73114491-73114500 chr2:73114489-73114501 chr2:73114490-73114499 chr2:73114489-73114501
23	MXI1	chr2:73113946-73115267	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:73113581-73114132	A549	lung:	n/a	n/a
25	REST	chr2:73113980-73114875	ECC-1	luminal epithelium:	n/a	n/a
26	REST	chr2:73113766-73115342	A549	lung:	n/a	n/a
27	JUN	chr2:73113655-73115589	K562	blood:	n/a	chr2:73114492-73114501 chr2:73113985-73113997
28	CEBPB	chr2:73113661-73114007	K562	blood:	n/a	n/a
29	MAX	chr2:73113849-73115298	HepG2	liver:	n/a	n/a
30	MAX	chr2:73113979-73115393	ECC-1	luminal epithelium:	n/a	n/a
31	CEBPB	chr2:73113617-73114082	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr2:73113949-73115345	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr2:73113465-73114312	HCT-116	colon:	n/a	n/a
34	RCOR1	chr2:73113811-73115331	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr2:73113626-73115740	IMR90	lung:	n/a	chr2:73113862-73113877
36	CTCF	chr2:73113665-73116140	SK-N-SH	brain:	n/a	chr2:73115126-73115142 chr2:73115127-73115140 chr2:73115810-73115823 chr2:73115125-73115143 chr2:73115808-73115826 chr2:73114493-73114506 chr2:73115127-73115140 chr2:73114232-73114245
37	MAX	chr2:73113940-73116478	HepG2	liver:	n/a	chr2:73115901-73115911
38	MAX	chr2:73113792-73115482	A549	lung:	n/a	n/a
39	NR2F2	chr2:73113905-73114773	MCF-7	breast:	n/a	n/a
40	MAX	chr2:73113743-73116522	HepG2	liver:	n/a	chr2:73115901-73115911
41	HDAC2	chr2:73113967-73114651	MCF-7	breast:	n/a	n/a
42	CEBPB	chr2:73113610-73114008	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:73113660-73114017	HepG2	liver:	n/a	n/a
44	CTCF	chr2:73113444-73115661	A549	lung:	n/a	chr2:73115126-73115142 chr2:73115127-73115140 chr2:73115125-73115143 chr2:73114493-73114506 chr2:73115127-73115140 chr2:73114232-73114245
45	CEBPB	chr2:73113626-73114042	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr2:73113938-73115395	A549	lung:	n/a	n/a
47	SMC3	chr2:73113701-73115548	SK-N-SH	brain:	n/a	chr2:73114372-73114379 chr2:73115127-73115141
48	RFX5	chr2:73113731-73115328	Hela-S3	cervix:	n/a	n/a
49	SMC3	chr2:73113824-73114587	Hela-S3	cervix:	n/a	chr2:73114372-73114379
50	CEBPB	chr2:73113635-73114130	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73113720..73115697-chr2:73143241..73144788,2	MCF-7	breast:
2	chr2:73113671..73115841-chr2:73142116..73144129,2	MCF-7	breast:
3	chr2:73113851..73116141-chr2:73460063..73461895,2	K562	blood:
4	chr2:73113964..73115739-chr2:73439855..73442724,2	MCF-7	breast:

Variant related genes	Relation type
SPR	TF binding region
ENSG00000135624	Chromatin interaction
ENSG00000135638	Chromatin interaction
ENSG00000135632	Chromatin interaction
ENSG00000135617	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3377861	chr2:73113469-73116017	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73112800-73114000	Enhancers	Placenta	Placenta
2	chr2:73113400-73114000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:73113600-73114000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:73113600-73114000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:73113600-73114000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr2:73113600-73114000	Enhancers	Fetal Heart	heart
7	chr2:73113600-73114000	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr2:73113600-73114000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:73113600-73114000	Enhancers	HMEC	breast
10	chr2:73113600-73114200	Flanking Active TSS	HepG2	liver
11	chr2:73113600-73114400	Flanking Active TSS	Hela-S3	cervix
12	chr2:73113800-73114000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr2:73113800-73114000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:73113800-73114000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:73113800-73114000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
16	chr2:73113800-73114000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:73113800-73114000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr2:73113800-73114000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:73113800-73114000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:73113800-73114000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:73113800-73114000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:73113800-73114000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:73113800-73114000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr2:73113800-73114000	Enhancers	Brain Hippocampus Middle	brain
25	chr2:73113800-73114000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:73113800-73114000	Enhancers	Brain Substantia Nigra	brain
27	chr2:73113800-73114000	Enhancers	Esophagus	oesophagus
28	chr2:73113800-73114000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:73113800-73114000	Bivalent Enhancer	Fetal Brain Female	brain
30	chr2:73113800-73114000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr2:73113800-73114000	Enhancers	Left Ventricle	heart
32	chr2:73113800-73114000	Enhancers	Lung	lung
33	chr2:73113800-73114000	Enhancers	Pancreas	Pancrea
34	chr2:73113800-73114000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:73113800-73114000	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr2:73113800-73114000	Enhancers	Right Ventricle	heart
37	chr2:73113800-73114000	Enhancers	Stomach Mucosa	stomach
38	chr2:73113800-73114000	Enhancers	HSMMtube	muscle
39	chr2:73113800-73114000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr2:73113800-73114000	Enhancers	NHDF-Ad	bronchial
41	chr2:73113800-73114000	Enhancers	NHLF	lung
42	chr2:73113800-73114200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:73113800-73114200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:73113800-73114200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr2:73113800-73114200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:73113800-73114200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:73113800-73114200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:73113800-73114200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:73113800-73114200	Flanking Active TSS	Liver	Liver
50	chr2:73113800-73114200	Flanking Active TSS	Brain Anterior Caudate	brain

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