Variant report

Variant	rs543128074
Chromosome Location	chr1:247494417-247494418
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	REST	chr1:247494379-247495375	PFSK-1	brain:	n/a	n/a
2	UBTF	chr1:247494404-247496504	K562	blood:	n/a	n/a
3	SIN3A	chr1:247493833-247497073	H1-hESC	embryonic stem cell:	n/a	chr1:247495631-247495642 chr1:247495953-247495964
4	MTA3	chr1:247494361-247494905	GM12878	blood:	n/a	n/a
5	TAF1	chr1:247494284-247495892	H1-hESC	embryonic stem cell:	n/a	n/a
6	HEY1	chr1:247494289-247497747	K562	blood:	n/a	chr1:247494564-247494579
7	SIN3AK20	chr1:247494187-247494958	SK-N-SH	brain:	n/a	n/a
8	MAX	chr1:247493795-247494875	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr1:247494365-247494865	A549	lung:	n/a	n/a
10	UBTF	chr1:247494251-247496736	K562	blood:	n/a	n/a
11	POLR2A	chr1:247494334-247495960	Hela-S3	cervix:	n/a	n/a
12	HEY1	chr1:247494359-247495610	HepG2	liver:	n/a	chr1:247494564-247494579
13	POLR2A	chr1:247494301-247494845	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:247494233-247495033	U87	brain:	n/a	n/a
15	MAX	chr1:247494296-247494904	MCF-7	breast:	n/a	n/a
16	ELF1	chr1:247494100-247496415	GM12878	blood:	n/a	chr1:247495199-247495212 chr1:247494665-247494677 chr1:247496347-247496358
17	POLR2A	chr1:247494338-247495763	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:247494349-247494861	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:247494337-247495995	HCT-116	colon:	n/a	n/a
20	MAX	chr1:247494376-247495977	Hela-S3	cervix:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
21	RCOR1	chr1:247494319-247494778	K562	blood:	n/a	n/a
22	POLR2A	chr1:247494239-247495027	U87	brain:	n/a	n/a
23	REST	chr1:247494328-247494970	H1-neurons	neurons:	n/a	n/a
24	TBP	chr1:247494396-247495375	HepG2	liver:	n/a	n/a
25	TAF1	chr1:247494390-247494744	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:247494374-247494781	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:247494358-247495781	HEK293	kidney:	n/a	n/a
28	MAX	chr1:247494346-247494888	A549	lung:	n/a	n/a
29	POLR2A	chr1:247494250-247495914	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr1:247494398-247496436	NB4	blood:	n/a	n/a
31	POLR2A	chr1:247493944-247495972	H1-neurons	neurons:	n/a	n/a
32	YY1	chr1:247494383-247495427	ECC-1	luminal epithelium:	n/a	chr1:247495252-247495263 chr1:247495255-247495264
33	TAF1	chr1:247494322-247494816	K562	blood:	n/a	n/a
34	POLR2A	chr1:247494318-247498379	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:247494315-247496009	K562	blood:	n/a	n/a
36	POLR2A	chr1:247494343-247494817	HepG2	liver:	n/a	n/a
37	TAF1	chr1:247494219-247494945	H1-neurons	neurons:	n/a	n/a
38	HDAC2	chr1:247494273-247494640	K562	blood:	n/a	n/a
39	YY1	chr1:247494236-247494585	GM12892	blood:	n/a	n/a
40	POLR2A	chr1:247494312-247496028	GM19099	blood:	n/a	n/a
41	CEBPB	chr1:247494399-247494785	Hela-S3	cervix:	n/a	n/a
42	MAX	chr1:247493811-247496029	ECC-1	luminal epithelium:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
43	MYC	chr1:247494363-247496744	MCF10A-Er-Src	breast:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
44	POLR2A	chr1:247494335-247495530	GM12892	blood:	n/a	n/a
45	RCOR1	chr1:247494257-247496645	K562	blood:	n/a	n/a
46	POLR2A	chr1:247494396-247499332	K562	blood:	n/a	n/a
47	POLR2A	chr1:247494179-247495017	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr1:247494302-247495974	GM15510	blood:	n/a	n/a
49	TBP	chr1:247494395-247496204	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAL1	chr1:247494304-247494721	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:247237656..247243483-chr1:247491762..247497969,8	K562	blood:
2	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
3	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:
4	chr1:247493116..247494744-chr1:248019396..248022076,3	K562	blood:
5	chr1:247371399..247373319-chr1:247494315..247496686,3	K562	blood:
6	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
7	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:

Variant related genes	Relation type
ZNF496	TF binding region
ENSG00000162722	Chromatin interaction
ENSG00000153207	Chromatin interaction
ENSG00000227671	Chromatin interaction
ENSG00000162714	Chromatin interaction
ENSG00000135747	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	esv1848384	chr1:247485654-247495666	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
7	esv1811709	chr1:247491143-247495666	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
8	esv1840501	chr1:247491143-247495666	Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
9	esv3437414	chr1:247494354-247496902	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247493400-247494600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:247493400-247494800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr1:247493600-247494600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:247493600-247494600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:247493600-247494600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr1:247493600-247496400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:247493800-247494600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:247493800-247494600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr1:247493800-247494600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
10	chr1:247493800-247494600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:247493800-247495400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr1:247493800-247495800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:247493800-247496200	Active TSS	HSMMtube	muscle
14	chr1:247493800-247496400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:247493800-247496600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:247494000-247494600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:247494000-247494600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:247494000-247494800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr1:247494000-247495000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:247494000-247495000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:247494000-247496000	Active TSS	NHLF	lung
22	chr1:247494000-247496400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:247494000-247496400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:247494000-247496400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:247494000-247496400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:247494000-247496400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:247494000-247496400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:247494000-247496600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:247494000-247496600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:247494200-247494600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:247494200-247494600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:247494200-247494600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:247494200-247494600	Active TSS	Brain Germinal Matrix	brain
34	chr1:247494200-247494600	Active TSS	Fetal Heart	heart
35	chr1:247494200-247494800	Enhancers	Fetal Brain Male	brain
36	chr1:247494200-247494800	Bivalent/Poised TSS	HepG2	liver
37	chr1:247494200-247495000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr1:247494200-247495000	Active TSS	Stomach Mucosa	stomach
39	chr1:247494200-247495600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:247494200-247495600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:247494200-247495600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr1:247494200-247495600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:247494200-247495600	Active TSS	GM12878-XiMat	blood
44	chr1:247494200-247495600	Active TSS	HMEC	breast
45	chr1:247494200-247495800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:247494200-247495800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:247494200-247495800	Active TSS	Brain Angular Gyrus	brain
48	chr1:247494200-247495800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:247494200-247495800	Active TSS	Brain Substantia Nigra	brain
50	chr1:247494200-247495800	Active TSS	Fetal Intestine Large	intestine

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