Variant report

Variant	rs557020563
Chromosome Location	chr7:65670287-65670288
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	TCF7L2	chr7:65669994-65670601	HCT-116	colon:	n/a	n/a
2	MAFK	chr7:65670147-65670458	IMR90	lung:	n/a	n/a
3	TAF7	chr7:65670122-65670637	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr7:65669779-65670347	K562	blood:	n/a	chr7:65669971-65669984
5	POLR2A	chr7:65669928-65670663	U87	brain:	n/a	n/a
6	POLR2A	chr7:65670175-65670518	GM12891	blood:	n/a	n/a
7	CTCF	chr7:65670040-65670527	K562	blood:	n/a	n/a
8	SP1	chr7:65670006-65670439	GM12878	blood:	n/a	chr7:65670136-65670148 chr7:65670137-65670146 chr7:65670136-65670148 chr7:65670138-65670147 chr7:65670137-65670151
9	MXI1	chr7:65669662-65670554	HepG2	liver:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
10	TCF12	chr7:65669911-65670475	GM12878	blood:	n/a	n/a
11	CTCF	chr7:65670200-65670350	HMF	breast:	n/a	n/a
12	CTCF	chr7:65670200-65670350	GM12872	blood:	n/a	n/a
13	CTCF	chr7:65670240-65670390	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr7:65670227-65670423	LNCaP	prostate:	n/a	n/a
15	RAD21	chr7:65669681-65670886	H1-hESC	embryonic stem cell:	n/a	chr7:65670747-65670759 chr7:65670059-65670073
16	CTCF	chr7:65670240-65670390	GM06990	blood:	n/a	n/a
17	NFYB	chr7:65670006-65670505	K562	blood:	n/a	chr7:65670243-65670257 chr7:65670240-65670255 chr7:65670242-65670254 chr7:65670243-65670258 chr7:65670243-65670258
18	MAX	chr7:65669722-65670567	A549	lung:	n/a	chr7:65670022-65670031
19	MAZ	chr7:65669945-65670745	K562	blood:	n/a	chr7:65670022-65670031
20	PAX5	chr7:65670049-65670393	GM12878	blood:	n/a	chr7:65670193-65670211 chr7:65670205-65670215
21	POLR2A	chr7:65669934-65670657	U87	brain:	n/a	n/a
22	STAT1	chr7:65669917-65670479	GM12878	blood:	n/a	chr7:65670097-65670109
23	TEAD4	chr7:65670156-65670494	K562	blood:	n/a	n/a
24	CTCF	chr7:65670190-65670416	MCF-7	breast:	n/a	n/a
25	CTCF	chr7:65670220-65670370	GM12865	blood:	n/a	n/a
26	JUN	chr7:65670099-65670560	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr7:65670240-65670390	GM12865	blood:	n/a	n/a
28	RUNX3	chr7:65669647-65670625	GM12878	blood:	n/a	n/a
29	TAF1	chr7:65669957-65670708	ECC-1	luminal epithelium:	n/a	n/a
30	TAF1	chr7:65670060-65671007	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:65670147-65670523	HepG2	liver:	n/a	n/a
32	CTCF	chr7:65670220-65670370	HL-60	blood:	n/a	n/a
33	MAFK	chr7:65670192-65670410	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3A	chr7:65669573-65671475	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr7:65670161-65670547	GM12891	blood:	n/a	n/a
36	POLR2A	chr7:65669935-65670596	ECC-1	luminal epithelium:	n/a	n/a
37	SP1	chr7:65669540-65670711	HCT-116	colon:	n/a	chr7:65670635-65670644 chr7:65670691-65670705 chr7:65670136-65670148 chr7:65670137-65670146 chr7:65670635-65670645 chr7:65670136-65670148 chr7:65670685-65670695 chr7:65670138-65670147 chr7:65670635-65670645 chr7:65670634-65670646 chr7:65669970-65669979 chr7:65670137-65670151 chr7:65670677-65670691 chr7:65670634-65670646 chr7:65670636-65670645 chr7:65669970-65669980 chr7:65670635-65670644 chr7:65669966-65669980
38	CTCF	chr7:65670200-65670350	GM12870	blood:	n/a	n/a
39	RAD21	chr7:65670093-65670535	H1-hESC	embryonic stem cell:	n/a	n/a
40	NFYA	chr7:65669860-65670936	Hela-S3	cervix:	n/a	chr7:65670243-65670257 chr7:65670242-65670254 chr7:65670243-65670258 chr7:65670243-65670258
41	E2F4	chr7:65670116-65670414	MCF10A-Er-Src	breast:	n/a	chr7:65670245-65670254 chr7:65670179-65670188
42	CTCF	chr7:65670220-65670370	AG09319	gingival:	n/a	n/a
43	CTCF	chr7:65670200-65670350	GM12867	blood:	n/a	n/a
44	ELF1	chr7:65669929-65670503	K562	blood:	n/a	n/a
45	CTCF	chr7:65670173-65670405	GM13976	blood:	n/a	n/a
46	CTCF	chr7:65670171-65670423	LNCaP	prostate:	n/a	n/a
47	TCF12	chr7:65669983-65670662	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr7:65670161-65670475	GM12878	blood:	n/a	n/a
49	BCLAF1	chr7:65670100-65670520	GM12878	blood:	n/a	chr7:65670138-65670151 chr7:65670137-65670146
50	USF1	chr7:65669889-65670390	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65670237-65670287	HCM	heart:	n/a
2	chr7:65670237-65670287	U87	brain:	n/a
3	chr7:65670241-65670291	ECC-1	luminal epithelium:	n/a
4	chr7:65670237-65670287	GM12878	blood:	n/a
5	chr7:65670241-65670291	Hepatocyte	liver:	n/a
6	chr7:65670241-65670291	RPTEC	kidney:	n/a
7	chr7:65670237-65670287	LNCaP	prostate:	n/a
8	chr7:65670241-65670291	HUVEC	blood vessel:	n/a
9	chr7:65670237-65670287	HEEpiC	esophagus:	n/a
10	chr7:65670241-65670291	BJ	skin:	n/a
11	chr7:65670241-65670291	SK-N-MC	brain:	n/a
12	chr7:65670237-65670287	CMK	blood:	n/a
13	chr7:65670237-65670287	AG09309	skin:	n/a
14	chr7:65670237-65670287	GM12892	blood:	n/a
15	chr7:65670241-65670291	HRCEpiC	kidney:	n/a
16	chr7:65670237-65670287	AG09319	gingival:	n/a
17	chr7:65670241-65670291	MCF10A-Er-Src	breast:	n/a
18	chr7:65670237-65670287	PFSK-1	brain:	n/a
19	chr7:65670241-65670291	GM19239	blood:	n/a
20	chr7:65670237-65670287	IMR90	lung:	fetal
21	chr7:65670241-65670291	HEK293	kidney:	embryo
22	chr7:65670241-65670291	LNCaP	prostate:	n/a
23	chr7:65670241-65670291	HRE	kidney:	n/a
24	chr7:65670241-65670291	HCPEpiC	choroid plexus:	n/a
25	chr7:65670241-65670291	PrEC	prostate:	n/a
26	chr7:65670241-65670291	GM12892	blood:	n/a
27	chr7:65670237-65670287	PrEC	prostate:	n/a
28	chr7:65670241-65670291	HepG2	liver:	n/a
29	chr7:65670241-65670291	NHBE	bronchial:	n/a
30	chr7:65670237-65670287	GM06990	blood:	n/a
31	chr7:65670237-65670287	SK-N-SH_RA	brain:	n/a
32	chr7:65670237-65670287	BE2_C	brain:	n/a
33	chr7:65670241-65670291	K562	blood:	n/a
34	chr7:65670241-65670291	NB4	blood:	n/a
35	chr7:65670241-65670291	NH-A	brain:	n/a
36	chr7:65670241-65670291	SK-N-SH	brain:	n/a
37	chr7:65670237-65670287	ProgFib	skin:	n/a
38	chr7:65670241-65670291	HMEC	breast:	n/a
39	chr7:65670241-65670291	ovcar-3	ovarian:	n/a
40	chr7:65670241-65670291	A549	lung:	n/a
41	chr7:65670241-65670291	GM06990	blood:	n/a
42	chr7:65670237-65670287	HPAEpiC	pulmonary alveolar:	n/a
43	chr7:65670241-65670291	AoSMC	blood vessel:	n/a
44	chr7:65670237-65670287	HIPEpiC	eye:	n/a
45	chr7:65670237-65670287	RPTEC	kidney:	n/a
46	chr7:65670241-65670291	NHDF-neo	bronchial:	n/a
47	chr7:65670241-65670291	ProgFib	skin:	n/a
48	chr7:65670237-65670287	T-47D	breast:	n/a
49	chr7:65670237-65670287	AG10803	skin:	n/a
50	chr7:65670241-65670291	SKMC	muscle:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRCP-3	chr7:65670259-65670509	NONHSAT121146

Variant related genes	Relation type
TPST1	TF binding region
TPST1	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	esv3375675	chr7:65669142-65671690	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	1 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	chr7:65669400-65670600	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:65669400-65670600	Bivalent/Poised TSS	Thymus	Thymus
3	chr7:65669400-65670800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:65669400-65671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:65669400-65671000	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr7:65669400-65671000	Active TSS	Fetal Kidney	kidney
7	chr7:65669400-65671200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:65669400-65671200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:65669400-65672200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:65669400-65672400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:65669400-65673200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:65669600-65670400	Active TSS	Brain Germinal Matrix	brain
13	chr7:65669600-65670400	Active TSS	Right Ventricle	heart
14	chr7:65669600-65670600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:65669600-65670600	Active TSS	Fetal Intestine Large	intestine
16	chr7:65669600-65670600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:65669600-65670800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:65669600-65670800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:65669600-65670800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr7:65669600-65670800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr7:65669600-65670800	Active TSS	Brain Substantia Nigra	brain
22	chr7:65669600-65671000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:65669600-65671000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:65669600-65671000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:65669600-65671000	Active TSS	Brain Angular Gyrus	brain
26	chr7:65669600-65671000	Active TSS	Colon Smooth Muscle	Colon
27	chr7:65669600-65671200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:65669600-65671200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:65669600-65671200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:65669600-65671200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:65669600-65671200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:65669600-65671200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:65669600-65671200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:65669600-65671200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:65669600-65671200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:65669600-65671200	Active TSS	Esophagus	oesophagus
37	chr7:65669600-65671200	Active TSS	Fetal Brain Female	brain
38	chr7:65669600-65671200	Active TSS	Fetal Lung	lung
39	chr7:65669600-65671200	Active TSS	Ovary	ovary
40	chr7:65669600-65671400	Active TSS	Primary T cells from cord blood	blood
41	chr7:65669600-65671400	Active TSS	Brain Anterior Caudate	brain
42	chr7:65669600-65671400	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:65669600-65671400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr7:65669600-65671400	Active TSS	HSMM	muscle
45	chr7:65669600-65671600	Active TSS	Pancreas	Pancrea
46	chr7:65669600-65672200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr7:65669600-65672200	Active TSS	Right Atrium	heart
48	chr7:65669600-65672400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:65669600-65673000	Active TSS	NHDF-Ad	bronchial
50	chr7:65669800-65670800	Active TSS	H1 Cell Line	embryonic stem cell

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