Variant report

Variant	rs541309551
Chromosome Location	chr2:180128931-180128932
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	CEBPB	chr2:180128677-180130182	HepG2	liver:	n/a	chr2:180130075-180130088 chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
2	POLR2A	chr2:180128542-180129740	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:180128316-180129842	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr2:180128909-180129517	K562	blood:	n/a	chr2:180129297-180129310 chr2:180129308-180129318 chr2:180129437-180129450 chr2:180128977-180128991 chr2:180129040-180129054 chr2:180129298-180129312 chr2:180129013-180129027 chr2:180129331-180129344
5	POLR2A	chr2:180128308-180129749	GM18526	blood:	n/a	n/a
6	MAX	chr2:180128083-180130069	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:180128558-180129802	Gliobla	brain:	n/a	n/a
8	HDAC2	chr2:180128145-180129955	HepG2	liver:	n/a	n/a
9	SIN3AK20	chr2:180128085-180129583	PANC-1	pancreas:	n/a	n/a
10	CEBPD	chr2:180128885-180129849	HepG2	liver:	n/a	n/a
11	REST	chr2:180128304-180128942	H1-neurons	neurons:	n/a	n/a
12	E2F4	chr2:180128856-180128944	MCF10A-Er-Src	breast:	n/a	n/a
13	UBTF	chr2:180128410-180130025	K562	blood:	n/a	n/a
14	MAX	chr2:180128489-180129999	K562	blood:	n/a	n/a
15	MXI1	chr2:180127993-180129897	IMR90	lung:	n/a	n/a
16	E2F6	chr2:180128362-180129972	K562	blood:	n/a	chr2:180129176-180129186 chr2:180129191-180129203 chr2:180129541-180129553 chr2:180129133-180129143 chr2:180129606-180129621 chr2:180129339-180129348 chr2:180129559-180129568
17	HA-E2F1	chr2:180128225-180130113	MCF-7	breast:	n/a	chr2:180129176-180129186 chr2:180129191-180129203 chr2:180129541-180129553 chr2:180129133-180129143 chr2:180129606-180129621 chr2:180129339-180129348 chr2:180129559-180129568
18	TCF12	chr2:180128246-180129119	A549	lung:	n/a	n/a
19	POLR2A	chr2:180128651-180129814	GM12892	blood:	n/a	n/a
20	PAX5	chr2:180128566-180129696	GM12892	blood:	n/a	chr2:180129552-180129571
21	POLR2A	chr2:180128429-180129024	Hela-S3	cervix:	n/a	n/a
22	SMARCB1	chr2:180128224-180129990	Hela-S3	cervix:	n/a	n/a
23	UBTF	chr2:180128576-180129317	K562	blood:	n/a	n/a
24	MAZ	chr2:180127821-180130020	IMR90	lung:	n/a	n/a
25	CEBPB	chr2:180128539-180128948	MCF-7	breast:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
26	CEBPB	chr2:180128571-180129132	A549	lung:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
27	MAZ	chr2:180128240-180129896	Hela-S3	cervix:	n/a	n/a
28	EGR1	chr2:180128905-180129107	GM12878	blood:	n/a	chr2:180128977-180128991 chr2:180129040-180129054 chr2:180129013-180129027
29	SIN3AK20	chr2:180128705-180129094	SK-N-SH	brain:	n/a	n/a
30	ZBTB7A	chr2:180128859-180129118	K562	blood:	n/a	n/a
31	MYC	chr2:180128718-180128982	K562	blood:	n/a	n/a
32	RUNX3	chr2:180128245-180128996	GM12878	blood:	n/a	n/a
33	HA-E2F1	chr2:180128711-180129813	Hela-S3	cervix:	n/a	chr2:180129176-180129186 chr2:180129191-180129203 chr2:180129541-180129553 chr2:180129133-180129143 chr2:180129606-180129621 chr2:180129339-180129348 chr2:180129559-180129568
34	MXI1	chr2:180128108-180128940	HepG2	liver:	n/a	n/a
35	HEY1	chr2:180128790-180129962	HepG2	liver:	n/a	chr2:180129167-180129182 chr2:180129564-180129579 chr2:180129249-180129264 chr2:180129091-180129106
36	E2F6	chr2:180128545-180129052	K562	blood:	n/a	n/a
37	HEY1	chr2:180128561-180129081	HepG2	liver:	n/a	chr2:180128656-180128671
38	BACH1	chr2:180128833-180129052	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr2:180128824-180129830	HepG2	liver:	n/a	n/a
40	RUNX3	chr2:180128222-180129341	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:180128262-180130105	Hela-S3	cervix:	n/a	n/a
42	TBP	chr2:180128513-180129353	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr2:180127690-180130143	HepG2	liver:	n/a	n/a
44	RCOR1	chr2:180128637-180129981	HepG2	liver:	n/a	n/a
45	MTA3	chr2:180128115-180128962	GM12878	blood:	n/a	n/a
46	CEBPB	chr2:180128654-180129060	ECC-1	luminal epithelium:	n/a	chr2:180128847-180128858 chr2:180128845-180128856 chr2:180128845-180128858 chr2:180128847-180128856
47	MXI1	chr2:180128691-180128986	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:180128600-180129941	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:180128856-180129738	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr2:180128839-180128966	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:180128889-180128939	BE2_C	brain:	n/a
2	chr2:180128889-180128939	ovcar-3	ovarian:	n/a
3	chr2:180128907-180128957	HIPEpiC	eye:	n/a
4	chr2:180128907-180128957	GM19239	blood:	n/a
5	chr2:180128907-180128957	SK-N-MC	brain:	n/a
6	chr2:180128889-180128939	HRCEpiC	kidney:	n/a
7	chr2:180128889-180128939	Caco-2	colon:	n/a
8	chr2:180128907-180128957	RPTEC	kidney:	n/a
9	chr2:180128889-180128939	HIPEpiC	eye:	n/a
10	chr2:180128889-180128939	MCF-7	breast:	n/a
11	chr2:180128907-180128957	NH-A	brain:	n/a
12	chr2:180128889-180128939	SK-N-SH	brain:	n/a
13	chr2:180128907-180128957	SKMC	muscle:	n/a
14	chr2:180128907-180128957	HCT-116	colon:	n/a
15	chr2:180128889-180128939	T-47D	breast:	n/a
16	chr2:180128889-180128939	PANC-1	pancreas:	n/a
17	chr2:180128907-180128957	ovcar-3	ovarian:	n/a
18	chr2:180128889-180128939	HNPCEpiC	eye:	n/a
19	chr2:180128889-180128939	SKMC	muscle:	n/a
20	chr2:180128889-180128939	HCM	heart:	n/a
21	chr2:180128907-180128957	Hela-S3	cervix:	n/a
22	chr2:180128907-180128957	PANC-1	pancreas:	n/a
23	chr2:180128907-180128957	A549	lung:	n/a
24	chr2:180128889-180128939	CMK	blood:	n/a
25	chr2:180128889-180128939	HEEpiC	esophagus:	n/a
26	chr2:180128889-180128939	HMEC	breast:	n/a
27	chr2:180128907-180128957	BJ	skin:	n/a
28	chr2:180128907-180128957	HNPCEpiC	eye:	n/a
29	chr2:180128889-180128939	PrEC	prostate:	n/a
30	chr2:180128907-180128957	HEK293	kidney:	embryo
31	chr2:180128889-180128939	U87	brain:	n/a
32	chr2:180128907-180128957	AG09309	skin:	n/a
33	chr2:180128889-180128939	NHDF-neo	bronchial:	n/a
34	chr2:180128889-180128939	HUVEC	blood vessel:	n/a
35	chr2:180128907-180128957	HepG2	liver:	n/a
36	chr2:180128889-180128939	Jurkat	blood:	n/a
37	chr2:180128889-180128939	ProgFib	skin:	n/a
38	chr2:180128889-180128939	HL-60	blood:	n/a
39	chr2:180128907-180128957	AG10803	skin:	n/a
40	chr2:180128907-180128957	SK-N-SH	brain:	n/a
41	chr2:180128907-180128957	LNCaP	prostate:	n/a
42	chr2:180128889-180128939	NHBE	bronchial:	n/a
43	chr2:180128907-180128957	GM06990	blood:	n/a
44	chr2:180128889-180128939	NH-A	brain:	n/a
45	chr2:180128907-180128957	HEEpiC	esophagus:	n/a
46	chr2:180128889-180128939	IMR90	lung:	fetal
47	chr2:180128889-180128939	AG04449	skin:	fetal
48	chr2:180128907-180128957	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:180128907-180128957	K562	blood:	n/a
50	chr2:180128907-180128957	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:180127590..180133149-chr2:180134052..180141026,12	MCF-7	breast:
2	chr2:180127231..180129754-chr2:180137790..180140822,6	MCF-7	breast:
3	chr2:179315142..179317025-chr2:180127825..180130038,2	MCF-7	breast:

Variant related genes	Relation type
SESTD1	TF binding region
SESTD1	CpG island
ENSG00000237477	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000180228	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	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3341099	chr2:180128207-180130605	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180126400-180130200	Active TSS	Stomach Smooth Muscle	stomach
2	chr2:180127200-180129600	Active TSS	HMEC	breast
3	chr2:180127200-180129800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:180127600-180129600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:180127600-180129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:180127600-180129800	Active TSS	Aorta	Aorta
7	chr2:180127600-180129800	Active TSS	Duodenum Mucosa	Duodenum
8	chr2:180127600-180130000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:180127800-180129000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:180127800-180129600	Active TSS	Fetal Stomach	stomach
11	chr2:180127800-180129800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:180127800-180129800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:180127800-180129800	Active TSS	Brain Angular Gyrus	brain
14	chr2:180127800-180129800	Active TSS	Brain Hippocampus Middle	brain
15	chr2:180127800-180129800	Active TSS	HSMMtube	muscle
16	chr2:180127800-180129800	Active TSS	NHLF	lung
17	chr2:180127800-180130000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:180127800-180130000	Active TSS	Fetal Kidney	kidney
19	chr2:180127800-180130000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:180127800-180130200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:180128000-180129000	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
22	chr2:180128000-180129200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr2:180128000-180129600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:180128000-180129600	Active TSS	Primary B cells from peripheral blood	blood
25	chr2:180128000-180129600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:180128000-180129600	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:180128000-180129800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:180128000-180129800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:180128000-180130000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:180128000-180130000	Active TSS	Right Ventricle	heart
31	chr2:180128000-180130200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:180128200-180129000	Active TSS	Fetal Heart	heart
33	chr2:180128200-180129000	Bivalent/Poised TSS	HepG2	liver
34	chr2:180128200-180129600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:180128200-180129600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:180128200-180129600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:180128200-180129600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:180128200-180129600	Active TSS	Esophagus	oesophagus
39	chr2:180128200-180129600	Active TSS	Fetal Muscle Trunk	muscle
40	chr2:180128200-180129600	Active TSS	Lung	lung
41	chr2:180128200-180129600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr2:180128200-180129600	Active TSS	Small Intestine	intestine
43	chr2:180128200-180129600	Active TSS	Thymus	Thymus
44	chr2:180128200-180129600	Active TSS	GM12878-XiMat	blood
45	chr2:180128200-180129600	Active TSS	NHEK	skin
46	chr2:180128200-180129800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:180128200-180129800	Active TSS	Brain Anterior Caudate	brain
48	chr2:180128200-180129800	Active TSS	Brain Substantia Nigra	brain
49	chr2:180128200-180129800	Active TSS	Colon Smooth Muscle	Colon
50	chr2:180128200-180129800	Active TSS	Gastric	stomach

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