Variant report

Variant	rs376361130
Chromosome Location	chr1:154298802-154298803
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:290)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:154298735-154298982	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:154298599-154299416	HUVEC	blood vessel:	n/a	n/a
3	RCOR1	chr1:154298579-154299000	HepG2	liver:	n/a	n/a
4	CTCF	chr1:154298800-154298950	GM12873	blood:	n/a	n/a
5	TBP	chr1:154298637-154299054	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:154298800-154298950	HL-60	blood:	n/a	n/a
7	CTCF	chr1:154298780-154298930	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr1:154298800-154298950	GM12875	blood:	n/a	n/a
9	CTCF	chr1:154298760-154298910	NB4	blood:	n/a	n/a
10	POLR2A	chr1:154298464-154299740	PBDE	blood:	n/a	n/a
11	CTCF	chr1:154298740-154298974	Fibrobl	skin:	n/a	n/a
12	ATF2	chr1:154298534-154299012	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr1:154298780-154298930	AG09319	gingival:	n/a	n/a
14	POLR2A	chr1:154298591-154299022	HCT-116	colon:	n/a	n/a
15	CTCF	chr1:154298800-154298950	GM12878	blood:	n/a	n/a
16	HCFC1	chr1:154298617-154299138	K562	blood:	n/a	n/a
17	MAX	chr1:154298771-154299118	K562	blood:	n/a	n/a
18	CTCF	chr1:154298780-154298930	HAc	cerebellar:	n/a	n/a
19	CTCF	chr1:154298800-154298950	RPTEC	kidney:	n/a	n/a
20	POLR2A	chr1:154298484-154299169	U87	brain:	n/a	n/a
21	E2F6	chr1:154298795-154298953	K562	blood:	n/a	n/a
22	CTCF	chr1:154298730-154298968	HUVEC	blood vessel:	n/a	n/a
23	CREB1	chr1:154298744-154298994	A549	lung:	n/a	n/a
24	PML	chr1:154298629-154299006	K562	blood:	n/a	n/a
25	YY1	chr1:154298658-154299004	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr1:154298730-154298991	GM12891	blood:	n/a	n/a
27	POLR2A	chr1:154298369-154299648	PFSK-1	brain:	n/a	n/a
28	CTCF	chr1:154298780-154298930	GM06990	blood:	n/a	n/a
29	CTCF	chr1:154298780-154298930	GM12870	blood:	n/a	n/a
30	GTF2F1	chr1:154298747-154298996	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr1:154298648-154298992	HCT-116	colon:	n/a	n/a
32	CTCF	chr1:154298760-154298910	BJ	skin:	n/a	n/a
33	CTCF	chr1:154298552-154299203	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:154298380-154298999	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:154298662-154299136	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr1:154298548-154299020	A549	lung:	n/a	n/a
37	CTCF	chr1:154298760-154298910	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:154297174-154299113	HepG2	liver:	n/a	n/a
39	CTCF	chr1:154298780-154298930	Hela-S3	cervix:	n/a	n/a
40	MAX	chr1:154298685-154299186	H1-hESC	embryonic stem cell:	n/a	n/a
41	TBP	chr1:154298730-154298986	HepG2	liver:	n/a	n/a
42	CTCF	chr1:154298294-154299510	A549	lung:	n/a	n/a
43	CHD2	chr1:154298507-154298980	K562	blood:	n/a	n/a
44	RAD21	chr1:154298621-154299158	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:154298760-154298910	HFF-Myc	foreskin:	n/a	n/a
46	ZNF143	chr1:154298747-154298996	GM12878	blood:	n/a	chr1:154298886-154298896
47	CTCF	chr1:154298800-154298950	HAc	cerebellar:	n/a	n/a
48	CTCF	chr1:154298800-154298950	BJ	skin:	n/a	n/a
49	CTCF	chr1:154298800-154298950	AG04449	skin:	n/a	n/a
50	SMC3	chr1:154298750-154298974	K562	blood:	n/a	n/a

No data

(count:13 , 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	chr1:154298791..154299361-chr1:154450882..154451391,2	MCF-7	breast:
4	chr1:154297523..154301046-chr1:154302603..154305255,3	K562	blood:
5	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
6	chr1:154296377..154299135-chr1:154376809..154380119,3	MCF-7	breast:
7	chr1:154297478..154299656-chr1:154316954..154319172,2	MCF-7	breast:
8	chr1:154244884..154247394-chr1:154296390..154298976,2	K562	blood:
9	chr1:154298352..154298873-chr1:154317570..154318208,2	MCF-7	breast:
10	chr1:153937858..153939695-chr1:154298262..154300204,2	MCF-7	breast:
11	chr1:154298706..154299255-chr1:154307489..154308085,2	MCF-7	breast:
12	chr1:154298520..154299715-chr1:154317448..154318364,4	MCF-7	breast:
13	chr1:154298450..154299342-chr1:154307196..154308082,5	K562	blood:

No data

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000143575	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000228013	Chromatin interaction
ENSG00000160712	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	chr1:154297200-154299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:154297200-154299000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:154297200-154299000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154297200-154299000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:154297200-154299000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:154297200-154299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:154297200-154299000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:154297200-154299000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:154297200-154299000	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:154297200-154299000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:154297200-154299000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:154297200-154299000	Active TSS	Fetal Kidney	kidney
22	chr1:154297200-154299000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:154297200-154299000	Active TSS	Ovary	ovary
24	chr1:154297200-154299000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr1:154297200-154299000	Active TSS	A549	lung
26	chr1:154297200-154299000	Active TSS	HSMMtube	muscle
27	chr1:154297200-154299200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr1:154297200-154299200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:154297200-154299200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:154297200-154299200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:154297200-154299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:154297200-154299400	Active TSS	NHLF	lung
33	chr1:154297200-154299600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:154297200-154299600	Active TSS	Aorta	Aorta
35	chr1:154297400-154299000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:154297400-154299000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
37	chr1:154297400-154299000	Active TSS	NH-A	brain
38	chr1:154297400-154299200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:154297400-154299200	Active TSS	Psoas Muscle	Psoas
40	chr1:154298200-154299000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:154298200-154299400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr1:154298200-154299400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr1:154298200-154300000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr1:154298200-154300600	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr1:154298200-154301600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr1:154298400-154299000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:154298400-154299000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr1:154298400-154299000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr1:154298400-154299000	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr1:154298400-154299200	Flanking Active TSS	Primary B cells from peripheral blood	blood

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