Variant report

Variant	rs576013913
Chromosome Location	chr1:95582756-95582757
allele	C/T
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	MAX	chr1:95582244-95583623	K562	blood:	n/a	chr1:95582839-95582849
2	MAZ	chr1:95582229-95583886	K562	blood:	n/a	chr1:95582839-95582849 chr1:95583662-95583672
3	TAF1	chr1:95582704-95582984	K562	blood:	n/a	n/a
4	REST	chr1:95581938-95583315	H1-neurons	neurons:	n/a	chr1:95583217-95583230 chr1:95582375-95582395 chr1:95583161-95583174 chr1:95582615-95582635 chr1:95582615-95582635
5	RFX5	chr1:95582182-95583171	Hela-S3	cervix:	n/a	n/a
6	JUND	chr1:95582239-95582810	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF384	chr1:95582307-95583254	K562	blood:	n/a	chr1:95582602-95582610
8	EP300	chr1:95582217-95582946	K562	blood:	n/a	chr1:95582867-95582883 chr1:95582863-95582879 chr1:95582828-95582844
9	CTCF	chr1:95582105-95583015	HCT-116	colon:	n/a	n/a
10	ELK1	chr1:95582718-95582896	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr1:95582035-95584169	SK-N-SH	brain:	n/a	n/a
12	RCOR1	chr1:95582229-95583998	K562	blood:	n/a	n/a
13	TAF1	chr1:95582160-95583351	ECC-1	luminal epithelium:	n/a	n/a
14	ELF1	chr1:95582664-95583338	K562	blood:	n/a	chr1:95582931-95582943 chr1:95583118-95583130
15	YY1	chr1:95582669-95583177	K562	blood:	n/a	chr1:95582891-95582905 chr1:95582940-95582954
16	MYC	chr1:95582180-95583565	K562	blood:	n/a	chr1:95582839-95582849
17	TEAD4	chr1:95582150-95582885	K562	blood:	n/a	n/a
18	HEY1	chr1:95582312-95583218	HepG2	liver:	n/a	chr1:95583135-95583150
19	POLR2A	chr1:95582489-95583402	HepG2	liver:	n/a	n/a
20	MAX	chr1:95582674-95583249	SK-N-SH	brain:	n/a	chr1:95582839-95582849
21	MAX	chr1:95582179-95583242	Hela-S3	cervix:	n/a	chr1:95582839-95582849
22	MYBL2	chr1:95582154-95582862	HepG2	liver:	n/a	n/a
23	BRCA1	chr1:95582222-95582906	Hela-S3	cervix:	n/a	n/a
24	TBL1XR1	chr1:95582195-95583199	K562	blood:	n/a	n/a
25	RAD21	chr1:95582312-95583009	IMR90	lung:	n/a	n/a
26	RAD21	chr1:95582156-95583515	H1-hESC	embryonic stem cell:	n/a	chr1:95583050-95583063 chr1:95583109-95583121 chr1:95583107-95583126
27	RCOR1	chr1:95582190-95583315	Hela-S3	cervix:	n/a	n/a
28	MAX	chr1:95582105-95583117	ECC-1	luminal epithelium:	n/a	chr1:95582839-95582849
29	CTCF	chr1:95581805-95583042	A549	lung:	n/a	n/a
30	SMARCB1	chr1:95582265-95583701	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr1:95582548-95583218	HepG2	liver:	n/a	chr1:95583050-95583063 chr1:95583109-95583121 chr1:95583107-95583126
32	TAF7	chr1:95582351-95583144	H1-hESC	embryonic stem cell:	n/a	n/a
33	SMC3	chr1:95582271-95582983	K562	blood:	n/a	n/a
34	BACH1	chr1:95582140-95583091	H1-hESC	embryonic stem cell:	n/a	n/a
35	TCF7L2	chr1:95582275-95583199	Hela-S3	cervix:	n/a	n/a
36	ZBTB7A	chr1:95582725-95583569	K562	blood:	n/a	n/a
37	EGR1	chr1:95582412-95582903	ECC-1	luminal epithelium:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649
38	EGR1	chr1:95582297-95582964	K562	blood:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582949-95582959 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649
39	KAP1	chr1:95582130-95582932	U2OS	brain:	n/a	n/a
40	ZNF263	chr1:95582209-95583813	HEK293-T-REx	kidney:	n/a	chr1:95583198-95583207
41	ELF1	chr1:95582540-95582855	GM12878	blood:	n/a	n/a
42	MXI1	chr1:95582299-95582758	K562	blood:	n/a	n/a
43	NFIC	chr1:95582514-95583334	ECC-1	luminal epithelium:	n/a	n/a
44	TAF1	chr1:95582651-95583178	K562	blood:	n/a	n/a
45	EGR1	chr1:95582207-95582922	K562	blood:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649
46	ZKSCAN1	chr1:95582181-95583192	Hela-S3	cervix:	n/a	chr1:95582613-95582626
47	EGR1	chr1:95582376-95583100	H1-hESC	embryonic stem cell:	n/a	chr1:95582633-95582655 chr1:95582640-95582650 chr1:95582637-95582650 chr1:95582639-95582649 chr1:95582638-95582649 chr1:95582640-95582649 chr1:95582636-95582651 chr1:95582637-95582650 chr1:95582637-95582650 chr1:95582637-95582651 chr1:95582949-95582959 chr1:95582638-95582652 chr1:95582637-95582650 chr1:95582839-95582849 chr1:95582639-95582649
48	POLR2A	chr1:95582730-95583461	A549	lung:	n/a	n/a
49	IRF1	chr1:95581994-95582906	K562	blood:	n/a	chr1:95582836-95582850
50	CUX1	chr1:95582214-95582834	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95582751-95582801	GM12878	blood:	n/a
2	chr1:95582756-95582806	HIPEpiC	eye:	n/a
3	chr1:95582756-95582806	LNCaP	prostate:	n/a
4	chr1:95582751-95582801	HEEpiC	esophagus:	n/a
5	chr1:95582751-95582801	GM12891	blood:	n/a
6	chr1:95582756-95582806	NHDF-neo	bronchial:	n/a
7	chr1:95582751-95582801	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:95582751-95582801	Hela-S3	cervix:	n/a
9	chr1:95582756-95582806	NT2-D1	testis:	n/a
10	chr1:95582756-95582806	Hela-S3	cervix:	n/a
11	chr1:95582756-95582806	PrEC	prostate:	n/a
12	chr1:95582751-95582801	SK-N-SH	brain:	n/a
13	chr1:95582751-95582801	Jurkat	blood:	n/a
14	chr1:95582756-95582806	SK-N-MC	brain:	n/a
15	chr1:95582751-95582801	SK-N-SH_RA	brain:	n/a
16	chr1:95582756-95582806	HCF	heart:	n/a
17	chr1:95582756-95582806	HCPEpiC	choroid plexus:	n/a
18	chr1:95582751-95582801	HEK293	kidney:	embryo
19	chr1:95582751-95582801	HUVEC	blood vessel:	n/a
20	chr1:95582756-95582806	HCM	heart:	n/a
21	chr1:95582756-95582806	SK-N-SH_RA	brain:	n/a
22	chr1:95582751-95582801	A549	lung:	n/a
23	chr1:95582751-95582801	SKMC	muscle:	n/a
24	chr1:95582756-95582806	Hepatocyte	liver:	n/a
25	chr1:95582751-95582801	GM12892	blood:	n/a
26	chr1:95582756-95582806	K562	blood:	n/a
27	chr1:95582751-95582801	BJ	skin:	n/a
28	chr1:95582751-95582801	HepG2	liver:	n/a
29	chr1:95582756-95582806	ProgFib	skin:	n/a
30	chr1:95582751-95582801	NHBE	bronchial:	n/a
31	chr1:95582756-95582806	A549	lung:	n/a
32	chr1:95582751-95582801	GM19239	blood:	n/a
33	chr1:95582751-95582801	HCPEpiC	choroid plexus:	n/a
34	chr1:95582751-95582801	AG04450	lung:	fetal
35	chr1:95582756-95582806	HRPEpiC	eye:	n/a
36	chr1:95582756-95582806	HepG2	liver:	n/a
37	chr1:95582751-95582801	ProgFib	skin:	n/a
38	chr1:95582756-95582806	IMR90	lung:	fetal
39	chr1:95582756-95582806	AG04449	skin:	fetal
40	chr1:95582756-95582806	HRE	kidney:	n/a
41	chr1:95582756-95582806	NH-A	brain:	n/a
42	chr1:95582751-95582801	AG10803	skin:	n/a
43	chr1:95582756-95582806	CMK	blood:	n/a
44	chr1:95582756-95582806	MCF-7	breast:	n/a
45	chr1:95582756-95582806	Jurkat	blood:	n/a
46	chr1:95582751-95582801	HAEpiC	amniotic membrane:	n/a
47	chr1:95582751-95582801	HNPCEpiC	eye:	n/a
48	chr1:95582751-95582801	NHDF-neo	bronchial:	n/a
49	chr1:95582756-95582806	AG09309	skin:	n/a
50	chr1:95582751-95582801	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95581571..95584597-chr1:95698513..95700535,3	MCF-7	breast:
2	chr1:94946963..94948709-chr1:95581027..95583387,2	K562	blood:
3	chr1:95582616..95585939-chr1:95698259..95700506,4	K562	blood:
4	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
5	chr1:95581745..95584156-chr1:95699309..95702187,2	MCF-7	breast:
6	chr1:95582496..95583191-chr1:95699224..95700072,2	K562	blood:
7	chr1:95582556..95585358-chr1:95698094..95701319,5	K562	blood:
8	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:

Variant related genes	Relation type
TMEM56-RWDD3	TF binding region
ENSG00000231992	TF binding region
TMEM56	TF binding region
TMEM56	CpG island
ENSG00000231992	CpG island
TMEM56-RWDD3	CpG island
ENSG00000117528	Chromatin interaction
ENSG00000172339	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000206679	Chromatin interaction
ENSG00000122481	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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3354291	chr1:95580964-95585362	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
3	esv3407777	chr1:95581989-95584537	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
4	esv3326839	chr1:95582464-95584412	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
5	nsv823609	chr1:95582618-95583747	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95581600-95582800	Flanking Active TSS	Liver	Liver
2	chr1:95582000-95583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:95582000-95583600	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:95582000-95584200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:95582000-95584800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:95582200-95582800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:95582200-95582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr1:95582200-95582800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr1:95582200-95582800	Flanking Bivalent TSS/Enh	Osteobl	bone
13	chr1:95582200-95583200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:95582200-95583200	Active TSS	Colonic Mucosa	Colon
15	chr1:95582200-95583400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:95582200-95583400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:95582200-95583400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:95582200-95583400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:95582200-95583400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:95582200-95583400	Active TSS	Psoas Muscle	Psoas
21	chr1:95582200-95583400	Active TSS	NHLF	lung
22	chr1:95582200-95583600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr1:95582200-95583600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:95582200-95583600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:95582200-95583600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr1:95582200-95583600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:95582200-95583600	Active TSS	Duodenum Mucosa	Duodenum
28	chr1:95582200-95583600	Active TSS	Fetal Brain Female	brain
29	chr1:95582200-95583600	Active TSS	Fetal Kidney	kidney
30	chr1:95582200-95583800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:95582200-95583800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:95582200-95583800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:95582200-95583800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:95582200-95583800	Bivalent/Poised TSS	NHDF-Ad	bronchial
35	chr1:95582200-95584000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:95582200-95584000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:95582200-95584000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:95582200-95584000	Active TSS	Aorta	Aorta
39	chr1:95582200-95584000	Active TSS	Brain Angular Gyrus	brain
40	chr1:95582200-95584000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:95582200-95584000	Active TSS	Colon Smooth Muscle	Colon
42	chr1:95582200-95584000	Active TSS	Left Ventricle	heart
43	chr1:95582200-95584200	Active TSS	A549	lung
44	chr1:95582200-95584400	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:95582200-95584400	Active TSS	Rectal Smooth Muscle	rectum
46	chr1:95582200-95584600	Active TSS	Right Atrium	heart
47	chr1:95582200-95584600	Active TSS	Right Ventricle	heart
48	chr1:95582400-95582800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:95582400-95582800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:95582400-95582800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood

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