Variant report

Variant	rs575500388
Chromosome Location	chr2:47167640-47167641
allele	C/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	SP1	chr2:47167281-47168223	A549	lung:	n/a	chr2:47167597-47167606 chr2:47168108-47168117 chr2:47167596-47167608 chr2:47167925-47167937 chr2:47167925-47167937 chr2:47167596-47167608 chr2:47167598-47167607 chr2:47168104-47168118 chr2:47168107-47168119 chr2:47167927-47167936 chr2:47167597-47167606
2	RAD21	chr2:47167389-47167934	IMR90	lung:	n/a	n/a
3	PML	chr2:47167494-47168024	GM12878	blood:	n/a	n/a
4	CEBPB	chr2:47167527-47167877	A549	lung:	n/a	n/a
5	ZBTB7A	chr2:47167608-47168272	ECC-1	luminal epithelium:	n/a	n/a
6	ZBTB7A	chr2:47167467-47169239	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr2:47167486-47168583	U87	brain:	n/a	n/a
8	MAX	chr2:47167603-47169355	K562	blood:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
9	FOS	chr2:47167553-47167867	MCF10A-Er-Src	breast:	n/a	n/a
10	MAZ	chr2:47167483-47167640	GM12878	blood:	n/a	n/a
11	MXI1	chr2:47166976-47169461	HepG2	liver:	n/a	n/a
12	GATA3	chr2:47167309-47169655	A549	lung:	n/a	chr2:47169431-47169439
13	RFX5	chr2:47167635-47168057	HepG2	liver:	n/a	chr2:47167920-47167928
14	GTF2F1	chr2:47167321-47167855	Hela-S3	cervix:	n/a	n/a
15	MAX	chr2:47167138-47169869	Hela-S3	cervix:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
16	SMARCB1	chr2:47167445-47169505	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:47167483-47167683	GM12878	blood:	n/a	n/a
18	CTCF	chr2:47167562-47167642	GM19238	blood:	n/a	n/a
19	POLR2A	chr2:47166646-47169549	HepG2	liver:	n/a	n/a
20	SP1	chr2:47167379-47168156	A549	lung:	n/a	chr2:47167597-47167606 chr2:47168108-47168117 chr2:47167596-47167608 chr2:47167925-47167937 chr2:47167925-47167937 chr2:47167596-47167608 chr2:47167598-47167607 chr2:47168104-47168118 chr2:47168107-47168119 chr2:47167927-47167936 chr2:47167597-47167606
21	TCF7L2	chr2:47167528-47167747	PANC-1	pancreas:	n/a	n/a
22	TEAD4	chr2:47167588-47167982	HepG2	liver:	n/a	n/a
23	FOS	chr2:47167608-47167899	MCF10A-Er-Src	breast:	n/a	n/a
24	HEY1	chr2:47167080-47169431	HepG2	liver:	n/a	chr2:47167527-47167542
25	SIN3AK20	chr2:47167406-47169834	MCF-7	breast:	n/a	n/a
26	ZNF143	chr2:47167629-47168409	Hela-S3	cervix:	n/a	n/a
27	EP300	chr2:47167564-47167868	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:47167277-47169628	Hela-S3	cervix:	n/a	n/a
29	CCNT2	chr2:47167515-47169115	K562	blood:	n/a	chr2:47167974-47167983
30	MAX	chr2:47166482-47169616	HepG2	liver:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47166847-47166856 chr2:47167751-47167760
31	RUNX3	chr2:47167175-47167688	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:47167296-47169140	IMR90	lung:	n/a	n/a
33	MXI1	chr2:47167052-47169691	SK-N-SH	brain:	n/a	n/a
34	E2F6	chr2:47167271-47168271	A549	lung:	n/a	chr2:47168108-47168120 chr2:47167583-47167593 chr2:47167527-47167537
35	TFAP2A	chr2:47166511-47169094	Hela-S3	cervix:	n/a	chr2:47166818-47166829 chr2:47166818-47166829 chr2:47166814-47166829 chr2:47166818-47166829 chr2:47166818-47166829
36	POLR2A	chr2:47167335-47169168	HepG2	liver:	n/a	n/a
37	CTCF	chr2:47167640-47167790	MCF-7	breast:	n/a	n/a
38	MAX	chr2:47167200-47167648	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:47167549-47168572	HCT-116	colon:	n/a	n/a
40	SPI1	chr2:47167623-47167997	HL-60	blood:	n/a	chr2:47167809-47167818 chr2:47167806-47167819
41	TBP	chr2:47167474-47168436	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:47167566-47169554	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr2:47167388-47167768	HepG2	liver:	n/a	n/a
44	SPI1	chr2:47167476-47168103	HL-60	blood:	n/a	chr2:47167809-47167818 chr2:47167806-47167819
45	MAZ	chr2:47167315-47169681	Hela-S3	cervix:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
46	RAD21	chr2:47167432-47167807	Hela-S3	cervix:	n/a	n/a
47	NR2F2	chr2:47167560-47168112	K562	blood:	n/a	n/a
48	TCF7L2	chr2:47166677-47168133	Hela-S3	cervix:	n/a	chr2:47166924-47166934 chr2:47166926-47166935
49	MTA3	chr2:47167466-47167982	GM12878	blood:	n/a	n/a
50	REST	chr2:47167409-47168112	A549	lung:	n/a	chr2:47167521-47167539 chr2:47167951-47167961 chr2:47167930-47167943 chr2:47167937-47167946 chr2:47167533-47167546

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47167606-47167656	MCF-7	breast:	n/a
2	chr2:47167606-47167656	AG10803	skin:	n/a
3	chr2:47167606-47167656	SK-N-MC	brain:	n/a
4	chr2:47167606-47167656	Hela-S3	cervix:	n/a
5	chr2:47167606-47167656	GM19239	blood:	n/a
6	chr2:47167606-47167656	MCF10A-Er-Src	breast:	n/a
7	chr2:47167606-47167656	H1-hESC	embryonic stem cell:	embryo
8	chr2:47167606-47167656	HAEpiC	amniotic membrane:	n/a
9	chr2:47167606-47167656	GM12878	blood:	n/a
10	chr2:47167606-47167656	HCT-116	colon:	n/a
11	chr2:47167606-47167656	HUVEC	blood vessel:	n/a
12	chr2:47167606-47167656	HCM	heart:	n/a
13	chr2:47167606-47167656	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:47167606-47167656	K562	blood:	n/a
15	chr2:47167606-47167656	HCPEpiC	choroid plexus:	n/a
16	chr2:47167606-47167656	AG09309	skin:	n/a
17	chr2:47167606-47167656	HIPEpiC	eye:	n/a
18	chr2:47167606-47167656	CMK	blood:	n/a
19	chr2:47167606-47167656	HL-60	blood:	n/a
20	chr2:47167606-47167656	NHDF-neo	bronchial:	n/a
21	chr2:47167606-47167656	HCF	heart:	n/a
22	chr2:47167606-47167656	BE2_C	brain:	n/a
23	chr2:47167606-47167656	PANC-1	pancreas:	n/a
24	chr2:47167606-47167656	AG04450	lung:	fetal
25	chr2:47167606-47167656	NT2-D1	testis:	n/a
26	chr2:47167606-47167656	AG09319	gingival:	n/a
27	chr2:47167606-47167656	HMEC	breast:	n/a
28	chr2:47167606-47167656	GM12891	blood:	n/a
29	chr2:47167606-47167656	HepG2	liver:	n/a
30	chr2:47167606-47167656	HRE	kidney:	n/a
31	chr2:47167606-47167656	Jurkat	blood:	n/a
32	chr2:47167606-47167656	Caco-2	colon:	n/a
33	chr2:47167606-47167656	GM12892	blood:	n/a
34	chr2:47167606-47167656	NH-A	brain:	n/a
35	chr2:47167606-47167656	IMR90	lung:	fetal
36	chr2:47167606-47167656	ECC-1	luminal epithelium:	n/a
37	chr2:47167606-47167656	LNCaP	prostate:	n/a
38	chr2:47167606-47167656	SAEC	small airway:	n/a
39	chr2:47167606-47167656	HEEpiC	esophagus:	n/a
40	chr2:47167606-47167656	SK-N-SH_RA	brain:	n/a
41	chr2:47167606-47167656	ovcar-3	ovarian:	n/a
42	chr2:47167606-47167656	ProgFib	skin:	n/a
43	chr2:47167606-47167656	NHBE	bronchial:	n/a
44	chr2:47167606-47167656	RPTEC	kidney:	n/a
45	chr2:47167606-47167656	T-47D	breast:	n/a
46	chr2:47167606-47167656	PFSK-1	brain:	n/a
47	chr2:47167606-47167656	AoSMC	blood vessel:	n/a
48	chr2:47167606-47167656	SK-N-SH	brain:	n/a
49	chr2:47167606-47167656	NB4	blood:	n/a
50	chr2:47167606-47167656	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:47166662..47168239-chr2:47214409..47216366,2	MCF-7	breast:
2	chr2:47167461..47169104-chr2:47203278..47205346,2	MCF-7	breast:
3	chr2:47166915..47170495-chr2:47399445..47404516,7	MCF-7	breast:
4	chr2:47166648..47168601-chr2:47272959..47275479,2	MCF-7	breast:
5	chr2:47166510..47168193-chr2:47197498..47199709,2	MCF-7	breast:
6	chr2:47166485..47169114-chr2:47402596..47405123,4	MCF-7	breast:
7	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
8	chr2:47135393..47141252-chr2:47166022..47170880,5	K562	blood:
9	chr2:47165446..47170208-chr2:47173646..47177856,9	MCF-7	breast:
10	chr2:47143277..47146895-chr2:47166934..47170660,7	MCF-7	breast:
11	chr2:47167291..47170086-chr2:47204793..47207048,4	MCF-7	breast:
12	chr2:47139886..47146981-chr2:47165365..47170438,17	MCF-7	breast:
13	chr2:47166107..47171055-chr2:47402078..47404965,9	K562	blood:

Variant related genes	Relation type
TTC7A	TF binding region
TTC7A	CpG island
ENSG00000250565	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000119729	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv3427405	chr2:47166973-47169821	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv3332265	chr2:47167448-47169546	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47166400-47167800	Flanking Active TSS	Hela-S3	cervix
2	chr2:47166600-47167800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:47166600-47167800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:47166600-47167800	Enhancers	Left Ventricle	heart
5	chr2:47166600-47167800	Enhancers	Lung	lung
6	chr2:47166600-47167800	Enhancers	Pancreas	Pancrea
7	chr2:47166600-47167800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:47166600-47167800	Enhancers	Spleen	Spleen
9	chr2:47166600-47168000	Enhancers	Fetal Heart	heart
10	chr2:47166800-47167800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:47166800-47167800	Enhancers	Small Intestine	intestine
12	chr2:47166800-47167800	Flanking Active TSS	A549	lung
13	chr2:47166800-47168000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr2:47166800-47168000	Flanking Active TSS	Fetal Thymus	thymus
15	chr2:47166800-47168000	Flanking Active TSS	HSMM	muscle
16	chr2:47167000-47167800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:47167000-47167800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:47167000-47167800	Enhancers	Aorta	Aorta
19	chr2:47167000-47167800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr2:47167000-47167800	Flanking Active TSS	HSMMtube	muscle
21	chr2:47167000-47167800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:47167000-47168000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr2:47167000-47168000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:47167000-47168000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:47167000-47168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:47167000-47168000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr2:47167000-47168000	Enhancers	Gastric	stomach
28	chr2:47167000-47168000	Flanking Active TSS	Osteobl	bone
29	chr2:47167000-47168200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr2:47167200-47167800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr2:47167200-47167800	Enhancers	Brain Angular Gyrus	brain
32	chr2:47167200-47167800	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr2:47167200-47167800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr2:47167200-47167800	Flanking Active TSS	K562	blood
35	chr2:47167200-47168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:47167200-47168000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:47167200-47168000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr2:47167200-47168000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:47167200-47168000	Flanking Active TSS	HMEC	breast
40	chr2:47167200-47168000	Flanking Active TSS	NHEK	skin
41	chr2:47167200-47168000	Flanking Active TSS	NHLF	lung
42	chr2:47167200-47168200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:47167200-47168200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr2:47167200-47168200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:47167200-47168200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr2:47167400-47167800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:47167400-47167800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:47167400-47167800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr2:47167400-47167800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr2:47167400-47167800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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