Variant report

Variant	rs575718619
Chromosome Location	chr1:225840427-225840428
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	POLR2A	chr1:225840354-225841982	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr1:225840115-225840898	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr1:225839134-225842062	IMR90	lung:	n/a	chr1:225840253-225840263
4	MAZ	chr1:225839591-225841061	Hela-S3	cervix:	n/a	chr1:225840253-225840263
5	RCOR1	chr1:225840420-225840444	HepG2	liver:	n/a	n/a
6	MXI1	chr1:225840342-225841696	HepG2	liver:	n/a	n/a
7	TAF7	chr1:225840112-225841860	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr1:225840029-225840496	H1-neurons	neurons:	n/a	n/a
9	MYC	chr1:225840289-225841392	NB4	blood:	n/a	n/a
10	POLR2A	chr1:225839670-225841962	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:225840250-225841140	HepG2	liver:	n/a	n/a
12	HA-E2F1	chr1:225840204-225840999	Hela-S3	cervix:	n/a	chr1:225840876-225840885 chr1:225840878-225840888 chr1:225840850-225840859
13	POLR2A	chr1:225840246-225840433	A549	lung:	n/a	n/a
14	POLR2A	chr1:225839685-225841842	ECC-1	luminal epithelium:	n/a	n/a
15	CHD2	chr1:225839585-225840471	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr1:225840422-225841675	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:225839665-225842385	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr1:225840346-225840742	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr1:225839300-225840704	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:225840417-225841831	ECC-1	luminal epithelium:	n/a	n/a
21	ZBTB7A	chr1:225840185-225840590	HepG2	liver:	n/a	chr1:225840325-225840336
22	RAD21	chr1:225839275-225840857	IMR90	lung:	n/a	chr1:225840796-225840810
23	POLR2A	chr1:225840423-225840446	A549	lung:	n/a	n/a
24	POLR2A	chr1:225840189-225841841	A549	lung:	n/a	n/a
25	TAF1	chr1:225840107-225841815	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr1:225838660-225844042	MCF10A-Er-Src	breast:	n/a	n/a
27	ZBTB7A	chr1:225839959-225841851	ECC-1	luminal epithelium:	n/a	chr1:225840325-225840336
28	GTF2F1	chr1:225840404-225840479	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:225840075-225840899	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:225840071-225843898	PANC-1	pancreas:	n/a	n/a
31	MYC	chr1:225839683-225840499	H1-hESC	embryonic stem cell:	n/a	chr1:225840253-225840263
32	SIN3AK20	chr1:225840023-225841860	PANC-1	pancreas:	n/a	n/a
33	RAD21	chr1:225840191-225840496	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3A	chr1:225839118-225841908	H1-hESC	embryonic stem cell:	n/a	chr1:225839876-225839884
35	CREB1	chr1:225840330-225841904	A549	lung:	n/a	chr1:225841631-225841644
36	TEAD4	chr1:225840077-225842017	SK-N-SH	brain:	n/a	n/a
37	TAF1	chr1:225840301-225841826	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr1:225840346-225841947	ProgFib	skin:	n/a	n/a
39	MXI1	chr1:225838953-225842036	IMR90	lung:	n/a	n/a
40	MAX	chr1:225839634-225841860	HepG2	liver:	n/a	chr1:225840253-225840263
41	POLR2A	chr1:225839159-225842396	HepG2	liver:	n/a	n/a
42	MYC	chr1:225840336-225841828	MCF10A-Er-Src	breast:	n/a	n/a
43	TBP	chr1:225839677-225841916	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:225839363-225842398	IMR90	lung:	n/a	n/a
45	SMC3	chr1:225840330-225840799	Hela-S3	cervix:	n/a	chr1:225840666-225840674
46	MAX	chr1:225839625-225841827	H1-hESC	embryonic stem cell:	n/a	chr1:225840253-225840263
47	ZBTB7A	chr1:225839615-225841844	ECC-1	luminal epithelium:	n/a	chr1:225840325-225840336
48	POLR2A	chr1:225840183-225842265	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr1:225840259-225842037	PFSK-1	brain:	n/a	n/a
50	MAX	chr1:225840207-225841779	H1-hESC	embryonic stem cell:	n/a	chr1:225840253-225840263

No.	Distal block	Cell Line	Cell type
1	chr1:225839962..225842492-chr1:226249684..226252539,2	MCF-7	breast:
2	chr1:225839775..225842863-chr1:225886341..225888955,3	MCF-7	breast:
3	chr1:225766054..225768167-chr1:225839556..225842131,2	MCF-7	breast:
4	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
5	chr1:225839340..225843768-chr1:225964006..225968066,9	MCF-7	breast:
6	chr1:225839693..225840682-chr19:13049150..13050042,2	Hela-S3	cervix:
7	chr1:225837738..225841787-chr1:225965241..225967265,3	MCF-7	breast:
8	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:

Variant related genes	Relation type
ENAH	TF binding region
ENSG00000196187	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000227496	Chromatin interaction
ENSG00000179218	Chromatin interaction
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3435512	chr1:225838929-225842227	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv3329174	chr1:225839754-225842702	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3323320	chr1:225840179-225841727	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 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	chr1:225836200-225842000	Active TSS	Aorta	Aorta
2	chr1:225836600-225841400	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:225836600-225842200	Active TSS	Right Ventricle	heart
4	chr1:225836600-225842200	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:225836800-225842200	Active TSS	NHLF	lung
6	chr1:225837000-225842000	Active TSS	Ovary	ovary
7	chr1:225837000-225842800	Active TSS	Psoas Muscle	Psoas
8	chr1:225837200-225841800	Active TSS	Osteobl	bone
9	chr1:225837200-225842800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr1:225837400-225842200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:225837600-225841600	Active TSS	Fetal Muscle Leg	muscle
12	chr1:225837600-225841800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:225837600-225842000	Active TSS	Fetal Lung	lung
14	chr1:225837600-225842000	Active TSS	Rectal Smooth Muscle	rectum
15	chr1:225837600-225842400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr1:225838000-225841400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:225838000-225841800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:225838000-225841800	Active TSS	Colon Smooth Muscle	Colon
19	chr1:225838000-225842000	Active TSS	Fetal Stomach	stomach
20	chr1:225838000-225842200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:225838000-225842400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:225838000-225842400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:225838000-225842800	Active TSS	A549	lung
24	chr1:225838200-225841600	Active TSS	Fetal Brain Female	brain
25	chr1:225838200-225841800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:225838200-225841800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:225838200-225842000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:225838200-225842000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:225838200-225842000	Active TSS	NH-A	brain
30	chr1:225838200-225842200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:225838200-225842200	Active TSS	HSMM	muscle
32	chr1:225838200-225842200	Active TSS	HSMMtube	muscle
33	chr1:225838200-225842400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:225838200-225842400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:225838200-225842400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:225838200-225842800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:225838400-225842000	Active TSS	NHDF-Ad	bronchial
38	chr1:225838400-225842200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:225838400-225842200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:225838600-225842000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:225838600-225842000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:225838600-225842000	Active TSS	Fetal Kidney	kidney
43	chr1:225838600-225842000	Active TSS	HMEC	breast
44	chr1:225838600-225842200	Active TSS	Fetal Muscle Trunk	muscle
45	chr1:225838800-225841400	Active TSS	Fetal Intestine Small	intestine
46	chr1:225838800-225841600	Active TSS	Duodenum Mucosa	Duodenum
47	chr1:225838800-225842000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:225838800-225842200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr1:225838800-225842200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:225838800-225842200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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