Variant report

Variant	rs563771124
Chromosome Location	chr1:155580495-155580496
allele	A/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	chr1:155579498-155580541	GM12878	blood:	n/a	chr1:155579823-155579833 chr1:155579822-155579834 chr1:155579822-155579834 chr1:155579823-155579832 chr1:155579823-155579837 chr1:155579823-155579832 chr1:155579824-155579833 chr1:155579823-155579833 chr1:155579973-155579994 chr1:155579929-155579950
2	POLR2A	chr1:155579412-155580844	U87	brain:	n/a	n/a
3	HEY1	chr1:155579448-155580992	K562	blood:	n/a	chr1:155579736-155579751
4	POLR2A	chr1:155579586-155580667	H1-hESC	embryonic stem cell:	n/a	n/a
5	POU2F2	chr1:155579476-155580551	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:155579603-155580536	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:155580457-155580511	Gliobla	brain:	n/a	n/a
8	POLR2A	chr1:155579331-155583059	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:155579402-155583617	GM12891	blood:	n/a	n/a
10	POLR2A	chr1:155579226-155581116	SK-N-MC	brain:	n/a	n/a
11	MYBL2	chr1:155579669-155580675	HepG2	liver:	n/a	n/a
12	MYC	chr1:155579541-155580622	HUVEC	blood vessel:	n/a	chr1:155579958-155579967
13	POLR2A	chr1:155579373-155580706	U87	brain:	n/a	n/a
14	POLR2A	chr1:155579277-155580766	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr1:155579475-155581000	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:155579335-155580994	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:155579468-155580651	ProgFib	skin:	n/a	n/a
18	POU2F2	chr1:155579476-155580582	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:155579429-155580968	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:155579491-155581008	GM12891	blood:	n/a	n/a
21	TAF1	chr1:155579491-155580551	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:155579492-155580852	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:155579507-155580617	MCF-7	breast:	n/a	n/a
24	TCF3	chr1:155579573-155580609	GM12878	blood:	n/a	n/a
25	FOSL2	chr1:155579568-155580861	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:155579531-155581123	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:155579486-155580931	MCF-7	breast:	n/a	n/a
28	POLR2A	chr1:155579220-155580989	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr1:155579396-155583651	GM12878	blood:	n/a	n/a
30	MYC	chr1:155579608-155580529	GM12878	blood:	n/a	chr1:155579958-155579967
31	POLR2A	chr1:155579226-155581034	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr1:155579318-155581086	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr1:155579436-155581135	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:155579415-155580977	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr1:155579619-155580605	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:155579370-155581070	K562	blood:	n/a	n/a
37	HEY1	chr1:155579377-155580858	K562	blood:	n/a	chr1:155579736-155579751
38	POU2F2	chr1:155579496-155580911	GM12891	blood:	n/a	n/a
39	POLR2A	chr1:155579494-155580548	GM12891	blood:	n/a	n/a
40	SIN3AK20	chr1:155579606-155580541	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:155579345-155584848	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:155579379-155581296	PFSK-1	brain:	n/a	n/a
43	TAF1	chr1:155579586-155580599	GM12891	blood:	n/a	n/a
44	POLR2A	chr1:155579308-155581133	HepG2	liver:	n/a	n/a
45	POLR2A	chr1:155579509-155580531	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:155579459-155580729	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:155579444-155580786	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:155579347-155582010	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:155579527-155580958	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:155579256-155583069	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155162487..155164653-chr1:155579583..155581273,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAP3-2	chr1:155580476-155580899	NONHSAT006748

Variant related genes	Relation type
ENSG00000232519	TF binding region
MSTO1	TF binding region
MSTO2P	TF binding region
ENSG00000185499	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv3043	chr1:155574054-155608574	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
12	nsv482134	chr1:155580007-155584757	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155579200-155580600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:155579200-155580600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:155579200-155580600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:155579200-155580600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:155579200-155580600	Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:155579200-155580600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:155579200-155580600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:155579200-155580600	Active TSS	Brain Anterior Caudate	brain
9	chr1:155579200-155580600	Active TSS	Colonic Mucosa	Colon
10	chr1:155579200-155580600	Active TSS	Duodenum Mucosa	Duodenum
11	chr1:155579200-155580600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:155579200-155580600	Active TSS	Fetal Brain Female	brain
13	chr1:155579200-155580600	Active TSS	Fetal Intestine Large	intestine
14	chr1:155579200-155580600	Active TSS	Fetal Muscle Trunk	muscle
15	chr1:155579200-155580600	Active TSS	Fetal Stomach	stomach
16	chr1:155579200-155580600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:155579200-155580600	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:155579200-155580600	Active TSS	HSMM	muscle
19	chr1:155579200-155580600	Active TSS	HSMMtube	muscle
20	chr1:155579200-155581200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:155579200-155581200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:155579200-155581200	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:155579200-155581200	Active TSS	Hela-S3	cervix
24	chr1:155579200-155581200	Active TSS	HMEC	breast
25	chr1:155579200-155581400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:155579200-155581400	Active TSS	GM12878-XiMat	blood
27	chr1:155579400-155580600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr1:155579400-155580600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:155579400-155580600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:155579400-155580600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:155579400-155580600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:155579400-155580600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:155579400-155580600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:155579400-155580600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:155579400-155580600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:155579400-155580600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:155579400-155580600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:155579400-155580600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:155579400-155580600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:155579400-155580600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:155579400-155580600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:155579400-155580600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:155579400-155580600	Active TSS	Brain Angular Gyrus	brain
44	chr1:155579400-155580600	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:155579400-155580600	Active TSS	Brain Germinal Matrix	brain
46	chr1:155579400-155580600	Active TSS	Brain Hippocampus Middle	brain
47	chr1:155579400-155580600	Active TSS	Fetal Kidney	kidney
48	chr1:155579400-155580600	Active TSS	Fetal Lung	lung
49	chr1:155579400-155580600	Active TSS	Fetal Muscle Leg	muscle
50	chr1:155579400-155580600	Active TSS	Left Ventricle	heart

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