Variant report

Variant	rs145447387
Chromosome Location	chr7:56118968-56118969
allele	A/C
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	PAX5	chr7:56118854-56119399	GM12891	blood:	n/a	n/a
2	TAF1	chr7:56118735-56120080	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr7:56118862-56119583	K562	blood:	n/a	chr7:56119407-56119416 chr7:56118901-56118913
4	CEBPD	chr7:56118827-56119742	K562	blood:	n/a	n/a
5	POLR2A	chr7:56117687-56123706	K562	blood:	n/a	n/a
6	CTCF	chr7:56118928-56119266	K562	blood:	n/a	n/a
7	POLR2A	chr7:56118628-56120157	Hela-S3	cervix:	n/a	n/a
8	TCF7L2	chr7:56118940-56120051	PANC-1	pancreas:	n/a	n/a
9	CREB1	chr7:56118715-56119821	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:56117567-56120230	Raji	blood:	n/a	n/a
11	ELK1	chr7:56118748-56119675	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:56118756-56119890	H1-neurons	neurons:	n/a	n/a
13	CREB1	chr7:56118807-56119811	GM12878	blood:	n/a	n/a
14	YY1	chr7:56118777-56120058	SK-N-SH	brain:	n/a	chr7:56119759-56119768 chr7:56119771-56119782 chr7:56119407-56119416
15	MYC	chr7:56118137-56120255	K562	blood:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
16	HA-E2F1	chr7:56118806-56120192	MCF-7	breast:	n/a	chr7:56119410-56119419 chr7:56119488-56119497 chr7:56119759-56119768 chr7:56119903-56119915 chr7:56119188-56119198 chr7:56118880-56118889
17	POLR2A	chr7:56118705-56119759	U87	brain:	n/a	n/a
18	HEY1	chr7:56118694-56119750	K562	blood:	n/a	chr7:56119411-56119426 chr7:56119188-56119203
19	POU2F2	chr7:56118818-56119612	GM12891	blood:	n/a	chr7:56118872-56118893
20	POLR2A	chr7:56118743-56120201	Hela-S3	cervix:	n/a	n/a
21	FOXM1	chr7:56118621-56119651	GM12878	blood:	n/a	n/a
22	RUNX3	chr7:56118728-56119743	GM12878	blood:	n/a	n/a
23	ELF1	chr7:56118885-56119719	MCF-7	breast:	n/a	chr7:56119407-56119416 chr7:56118901-56118913
24	POLR2A	chr7:56118887-56120405	GM12878	blood:	n/a	n/a
25	GATA1	chr7:56118200-56120092	PBDE	blood:	n/a	chr7:56118266-56118275
26	HDAC2	chr7:56118850-56119665	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:56118793-56120035	MCF-7	breast:	n/a	n/a
28	HDAC2	chr7:56118937-56119267	K562	blood:	n/a	n/a
29	MBD4	chr7:56118782-56119338	HepG2	liver:	n/a	n/a
30	MYC	chr7:56118352-56119882	H1-hESC	embryonic stem cell:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
31	NFIC	chr7:56118826-56119717	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:56117590-56120711	K562	blood:	n/a	n/a
33	POLR2A	chr7:56118022-56120418	K562	blood:	n/a	n/a
34	TAF1	chr7:56118898-56119642	GM12892	blood:	n/a	n/a
35	MAX	chr7:56118847-56119758	H1-hESC	embryonic stem cell:	n/a	n/a
36	EP300	chr7:56118926-56119873	ECC-1	luminal epithelium:	n/a	chr7:56119479-56119495 chr7:56119379-56119388 chr7:56119488-56119497
37	ATF2	chr7:56118748-56119546	GM12878	blood:	n/a	n/a
38	GATA3	chr7:56118707-56119880	A549	lung:	n/a	n/a
39	POLR2A	chr7:56118394-56120226	GM18951	blood:	n/a	n/a
40	TCF7L2	chr7:56118920-56119928	HCT-116	colon:	n/a	n/a
41	EP300	chr7:56118892-56119682	HepG2	liver:	n/a	chr7:56119479-56119495 chr7:56119379-56119388 chr7:56119488-56119497
42	POLR2A	chr7:56118713-56120064	GM12891	blood:	n/a	n/a
43	STAT3	chr7:56118958-56119454	MCF10A-Er-Src	breast:	n/a	n/a
44	TAF1	chr7:56118926-56119667	PFSK-1	brain:	n/a	n/a
45	POU2F2	chr7:56118839-56119683	GM12891	blood:	n/a	chr7:56118872-56118893
46	USF1	chr7:56118941-56119695	SK-N-SH	brain:	n/a	n/a
47	MAFK	chr7:56118815-56120157	K562	blood:	n/a	n/a
48	CHD1	chr7:56118559-56120629	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:56118729-56119698	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr7:56118850-56119900	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56118943..56119510-chr7:65215074..65216153,3	Hela-S3	cervix:
2	chr12:56521777..56522776-chr7:56118743..56119299,2	Hela-S3	cervix:
3	chr19:55918439..55919275-chr7:56118681..56119907,3	Hela-S3	cervix:
4	chr11:67169020..67169539-chr7:56118633..56119205,2	Hela-S3	cervix:
5	chr7:56100362..56103278-chr7:56116659..56119395,4	K562	blood:
6	chr7:56118556..56119278-chr8:94752605..94753375,2	HCT-116	colon:
7	chr7:56117578..56119708-chr7:56126304..56127920,2	MCF-7	breast:
8	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
9	chr14:39901137..39902070-chr7:56118572..56119330,2	Hela-S3	cervix:
10	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
11	chr17:56084186..56084964-chr7:56118754..56119681,2	Hela-S3	cervix:
12	chr7:56117123..56123487-chr7:56128716..56133468,11	MCF-7	breast:
13	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:
14	chr7:56100095..56103801-chr7:56117179..56120388,5	K562	blood:
15	chr7:56100273..56103332-chr7:56118092..56121325,5	MCF-7	breast:
16	chr19:17325956..17326501-chr7:56118944..56119671,2	Hela-S3	cervix:
17	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:

Variant related genes	Relation type
ENSG00000206603	TF binding region
CCT6A	TF binding region
ENSG00000139641	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000165355	Chromatin interaction
ENSG00000136450	Chromatin interaction
ENSG00000228409	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000183808	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000146733	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	esv3425362	chr7:56118483-56121331	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr7:56117600-56120000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:56117800-56119000	Flanking Active TSS	HUVEC	blood vessel
3	chr7:56117800-56119200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:56117800-56119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:56117800-56119200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr7:56117800-56120200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:56117800-56120200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:56117800-56120600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:56117800-56120600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:56117800-56120600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:56118000-56119200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr7:56118000-56119600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:56118000-56120000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:56118000-56120200	Active TSS	NHEK	skin
15	chr7:56118000-56120600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:56118000-56120600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:56118000-56120600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:56118000-56120600	Active TSS	Colonic Mucosa	Colon
19	chr7:56118000-56120600	Active TSS	A549	lung
20	chr7:56118000-56120600	Active TSS	HSMM	muscle
21	chr7:56118000-56120800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:56118000-56120800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:56118000-56121000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:56118200-56119000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr7:56118200-56119000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr7:56118200-56119400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:56118200-56119800	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr7:56118200-56119800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:56118200-56120000	Active TSS	HepG2	liver
30	chr7:56118200-56120200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr7:56118200-56120200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:56118200-56120200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:56118200-56120400	Active TSS	Fetal Intestine Large	intestine
34	chr7:56118200-56120600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:56118200-56120600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:56118200-56120600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:56118200-56120600	Active TSS	Psoas Muscle	Psoas
38	chr7:56118200-56120600	Active TSS	HMEC	breast
39	chr7:56118200-56120600	Active TSS	K562	blood
40	chr7:56118200-56120800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:56118200-56120800	Active TSS	HSMMtube	muscle
42	chr7:56118400-56119000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr7:56118400-56119000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr7:56118400-56119000	Flanking Active TSS	Placenta	Placenta
45	chr7:56118400-56119000	Active TSS	Right Atrium	heart
46	chr7:56118400-56119200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr7:56118400-56119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:56118400-56119200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:56118400-56119800	Active TSS	Thymus	Thymus
50	chr7:56118400-56119800	Active TSS	Dnd41	blood

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