Variant report

Variant	rs539639392
Chromosome Location	chr1:154298609-154298610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154298599-154299416	HUVEC	blood vessel:	n/a	n/a
2	RCOR1	chr1:154298579-154299000	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:154298464-154299740	PBDE	blood:	n/a	n/a
4	ATF2	chr1:154298534-154299012	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:154298591-154299022	HCT-116	colon:	n/a	n/a
6	POLR2A	chr1:154298484-154299169	U87	brain:	n/a	n/a
7	POLR2A	chr1:154298369-154299648	PFSK-1	brain:	n/a	n/a
8	CTCF	chr1:154298552-154299203	MCF-7	breast:	n/a	n/a
9	POLR2A	chr1:154298380-154298999	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr1:154298548-154299020	A549	lung:	n/a	n/a
11	POLR2A	chr1:154297174-154299113	HepG2	liver:	n/a	n/a
12	CTCF	chr1:154298591-154298624	GM19240	blood:	n/a	n/a
13	CTCF	chr1:154298294-154299510	A549	lung:	n/a	n/a
14	CHD2	chr1:154298507-154298980	K562	blood:	n/a	n/a
15	MAX	chr1:154298290-154299148	MCF-7	breast:	n/a	n/a
16	REST	chr1:154298420-154299131	A549	lung:	n/a	chr1:154298434-154298447 chr1:154298664-154298677 chr1:154298664-154298677 chr1:154298687-154298696 chr1:154298682-154298702 chr1:154298682-154298702
17	POLR2A	chr1:154297035-154299414	H1-neurons	neurons:	n/a	n/a
18	MAX	chr1:154297981-154299172	K562	blood:	n/a	n/a
19	CTCF	chr1:154298578-154299105	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr1:154298407-154299157	K562	blood:	n/a	n/a
21	UBTF	chr1:154298541-154299056	K562	blood:	n/a	n/a
22	MYC	chr1:154298553-154299306	K562	blood:	n/a	n/a
23	POLR2A	chr1:154297032-154298939	H1-neurons	neurons:	n/a	n/a
24	NR2F2	chr1:154298570-154299321	K562	blood:	n/a	n/a
25	TAF1	chr1:154298559-154299085	PFSK-1	brain:	n/a	n/a
26	MAX	chr1:154298315-154299360	SK-N-SH	brain:	n/a	n/a
27	SIN3A	chr1:154297071-154299239	H1-hESC	embryonic stem cell:	n/a	chr1:154298851-154298859 chr1:154298384-154298395 chr1:154298686-154298696
28	TEAD4	chr1:154298485-154299094	K562	blood:	n/a	n/a
29	MTA3	chr1:154298347-154298717	GM12878	blood:	n/a	n/a
30	HEY1	chr1:154298381-154298868	K562	blood:	n/a	n/a
31	POLR2A	chr1:154298348-154299526	ProgFib	skin:	n/a	n/a
32	MYC	chr1:154298603-154299265	A549	lung:	n/a	n/a
33	ZMIZ1	chr1:154298547-154299140	K562	blood:	n/a	n/a
34	HEY1	chr1:154298563-154299118	K562	blood:	n/a	n/a
35	YY1	chr1:154298552-154299172	H1-hESC	embryonic stem cell:	n/a	chr1:154299051-154299073
36	CBX3	chr1:154298549-154299086	K562	blood:	n/a	n/a
37	MAX	chr1:154298574-154299105	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr1:154297078-154299731	K562	blood:	n/a	n/a
39	TAF1	chr1:154298584-154299128	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:154298478-154299169	U87	brain:	n/a	n/a
41	POLR2A	chr1:154298416-154299209	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr1:154298281-154299158	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:154297671-154299637	IMR90	lung:	n/a	n/a
44	POLR2A	chr1:154297895-154299176	K562	blood:	n/a	n/a
45	POLR2A	chr1:154297161-154299004	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr1:154298397-154299240	K562	blood:	n/a	n/a
47	MXI1	chr1:154298604-154299041	K562	blood:	n/a	n/a
48	GTF2B	chr1:154298568-154299137	K562	blood:	n/a	n/a
49	MEF2A	chr1:154298518-154299258	SK-N-SH	brain:	n/a	chr1:154298895-154298906 chr1:154298897-154298906 chr1:154298896-154298907 chr1:154298894-154298908
50	CREB1	chr1:154298598-154299160	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154298398..154299500-chr1:154306705..154308264,16	MCF-7	breast:
2	chr1:154231693..154234092-chr1:154297283..154300191,2	K562	blood:
3	chr1:154297523..154301046-chr1:154302603..154305255,3	K562	blood:
4	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
5	chr1:154296377..154299135-chr1:154376809..154380119,3	MCF-7	breast:
6	chr1:154297478..154299656-chr1:154316954..154319172,2	MCF-7	breast:
7	chr1:154244884..154247394-chr1:154296390..154298976,2	K562	blood:
8	chr1:154298352..154298873-chr1:154317570..154318208,2	MCF-7	breast:
9	chr1:153937858..153939695-chr1:154298262..154300204,2	MCF-7	breast:
10	chr1:154298520..154299715-chr1:154317448..154318364,4	MCF-7	breast:
11	chr1:154298450..154299342-chr1:154307196..154308082,5	K562	blood:

No data

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000143575	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000228013	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000273026	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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription 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	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv523934	chr1:154296076-154307630	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
9	esv3437862	chr1:154296853-154299701	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154297000-154299000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:154297000-154299000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:154297000-154299000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:154297000-154299000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:154297000-154299000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:154297000-154299000	Active TSS	Right Ventricle	heart
7	chr1:154297000-154299000	Active TSS	Osteobl	bone
8	chr1:154297000-154299200	Active TSS	NHDF-Ad	bronchial
9	chr1:154297000-154299400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:154297200-154298800	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:154297200-154298800	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr1:154297200-154298800	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:154297200-154298800	Active TSS	Brain Substantia Nigra	brain
14	chr1:154297200-154298800	Active TSS	Small Intestine	intestine
15	chr1:154297200-154298800	Bivalent/Poised TSS	HepG2	liver
16	chr1:154297200-154299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:154297200-154299000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:154297200-154299000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154297200-154299000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:154297200-154299000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:154297200-154299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:154297200-154299000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:154297200-154299000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:154297200-154299000	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:154297200-154299000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:154297200-154299000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:154297200-154299000	Active TSS	Fetal Kidney	kidney
28	chr1:154297200-154299000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:154297200-154299000	Active TSS	Ovary	ovary
30	chr1:154297200-154299000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr1:154297200-154299000	Active TSS	A549	lung
32	chr1:154297200-154299000	Active TSS	HSMMtube	muscle
33	chr1:154297200-154299200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:154297200-154299200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:154297200-154299200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:154297200-154299200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:154297200-154299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:154297200-154299400	Active TSS	NHLF	lung
39	chr1:154297200-154299600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:154297200-154299600	Active TSS	Aorta	Aorta
41	chr1:154297400-154298800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:154297400-154298800	Active TSS	Gastric	stomach
43	chr1:154297400-154299000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:154297400-154299000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
45	chr1:154297400-154299000	Active TSS	NH-A	brain
46	chr1:154297400-154299200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:154297400-154299200	Active TSS	Psoas Muscle	Psoas
48	chr1:154298200-154298800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:154298200-154298800	Flanking Active TSS	Liver	Liver
50	chr1:154298200-154298800	Flanking Active TSS	Pancreas	Pancrea

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