Variant report

Variant	rs533158689
Chromosome Location	chr1:154298436-154298437
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	CCNT2	chr1:154298008-154298521	K562	blood:	n/a	chr1:154298266-154298275
2	YY1	chr1:154297027-154298458	GM12878	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
3	POLR2A	chr1:154298369-154299648	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:154298380-154298999	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:154297174-154299113	HepG2	liver:	n/a	n/a
6	CTCF	chr1:154298294-154299510	A549	lung:	n/a	n/a
7	YY1	chr1:154297021-154298443	GM12892	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
8	MAX	chr1:154298290-154299148	MCF-7	breast:	n/a	n/a
9	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
10	POLR2A	chr1:154297035-154299414	H1-neurons	neurons:	n/a	n/a
11	MAX	chr1:154297981-154299172	K562	blood:	n/a	n/a
12	ZBTB7A	chr1:154297950-154298587	K562	blood:	n/a	chr1:154298430-154298437
13	CTCF	chr1:154298320-154298470	GM12878	blood:	n/a	n/a
14	E2F6	chr1:154298391-154298584	K562	blood:	n/a	n/a
15	ZBTB7A	chr1:154297806-154298601	K562	blood:	n/a	chr1:154298430-154298437
16	MYC	chr1:154298407-154299157	K562	blood:	n/a	n/a
17	POLR2A	chr1:154297032-154298939	H1-neurons	neurons:	n/a	n/a
18	MAX	chr1:154298315-154299360	SK-N-SH	brain:	n/a	n/a
19	SIN3A	chr1:154297071-154299239	H1-hESC	embryonic stem cell:	n/a	chr1:154298851-154298859 chr1:154298384-154298395 chr1:154298686-154298696
20	MTA3	chr1:154298347-154298717	GM12878	blood:	n/a	n/a
21	HEY1	chr1:154298381-154298868	K562	blood:	n/a	n/a
22	RCOR1	chr1:154298387-154298551	K562	blood:	n/a	n/a
23	POLR2A	chr1:154298348-154299526	ProgFib	skin:	n/a	n/a
24	YY1	chr1:154297064-154298460	GM12891	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
25	POLR2A	chr1:154297078-154299731	K562	blood:	n/a	n/a
26	POLR2A	chr1:154298416-154299209	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr1:154298281-154299158	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:154297671-154299637	IMR90	lung:	n/a	n/a
29	POLR2A	chr1:154297895-154299176	K562	blood:	n/a	n/a
30	POLR2A	chr1:154297161-154299004	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr1:154298397-154299240	K562	blood:	n/a	n/a
32	TBP	chr1:154298414-154299191	K562	blood:	n/a	n/a
33	POLR2A	chr1:154296964-154299367	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr1:154298238-154299325	A549	lung:	n/a	n/a
35	POLR2A	chr1:154298274-154299396	PFSK-1	brain:	n/a	n/a
36	HMGN3	chr1:154298006-154298907	K562	blood:	n/a	n/a
37	REST	chr1:154296739-154299467	H1-neurons	neurons:	n/a	chr1:154298434-154298447 chr1:154298664-154298677 chr1:154298664-154298677 chr1:154298687-154298696 chr1:154298682-154298702 chr1:154298682-154298702 chr1:154298270-154298280
38	ZBTB7A	chr1:154297965-154299021	ECC-1	luminal epithelium:	n/a	chr1:154298430-154298437
39	CTCF	chr1:154298389-154299355	SK-N-SH	brain:	n/a	n/a
40	ZNF263	chr1:154298154-154300191	HEK293-T-REx	kidney:	n/a	chr1:154299253-154299262
41	TAF1	chr1:154297138-154299118	H1-neurons	neurons:	n/a	n/a
42	MTA3	chr1:154298125-154298871	GM12878	blood:	n/a	n/a
43	MAX	chr1:154298359-154299197	A549	lung:	n/a	n/a
44	MAZ	chr1:154296729-154299903	IMR90	lung:	n/a	n/a
45	RUNX3	chr1:154297955-154298530	GM12878	blood:	n/a	n/a
46	CREB1	chr1:154296996-154299191	HepG2	liver:	n/a	n/a
47	MAZ	chr1:154298435-154298999	HepG2	liver:	n/a	n/a
48	MAZ	chr1:154297045-154299403	K562	blood:	n/a	n/a
49	ZBTB7A	chr1:154297079-154298524	ECC-1	luminal epithelium:	n/a	chr1:154298430-154298437
50	CTCF	chr1:154298400-154298550	HRPEpiC	eye:	n/a	n/a

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:

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000143515	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000228013	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000143595	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	chr1:154297000-154298600	Active TSS	Brain Anterior Caudate	brain
2	chr1:154297000-154298600	Active TSS	Brain Cingulate Gyrus	brain
3	chr1:154297000-154298600	Active TSS	Brain Germinal Matrix	brain
4	chr1:154297000-154298600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:154297000-154298600	Active TSS	Thymus	Thymus
6	chr1:154297000-154298600	Active TSS	HSMM	muscle
7	chr1:154297000-154298600	Active TSS	HUVEC	blood vessel
8	chr1:154297000-154298600	Active TSS	NHEK	skin
9	chr1:154297000-154299000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:154297000-154299000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:154297000-154299000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:154297000-154299000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:154297000-154299000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:154297000-154299000	Active TSS	Right Ventricle	heart
15	chr1:154297000-154299000	Active TSS	Osteobl	bone
16	chr1:154297000-154299200	Active TSS	NHDF-Ad	bronchial
17	chr1:154297000-154299400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:154297200-154298600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:154297200-154298600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:154297200-154298600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:154297200-154298600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:154297200-154298600	Active TSS	Brain Angular Gyrus	brain
23	chr1:154297200-154298600	Active TSS	Colon Smooth Muscle	Colon
24	chr1:154297200-154298600	Active TSS	Fetal Brain Female	brain
25	chr1:154297200-154298600	Active TSS	Fetal Heart	heart
26	chr1:154297200-154298600	Active TSS	Left Ventricle	heart
27	chr1:154297200-154298600	Active TSS	Lung	lung
28	chr1:154297200-154298600	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:154297200-154298800	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:154297200-154298800	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:154297200-154298800	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr1:154297200-154298800	Active TSS	Brain Substantia Nigra	brain
33	chr1:154297200-154298800	Active TSS	Small Intestine	intestine
34	chr1:154297200-154298800	Bivalent/Poised TSS	HepG2	liver
35	chr1:154297200-154299000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:154297200-154299000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:154297200-154299000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:154297200-154299000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:154297200-154299000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr1:154297200-154299000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:154297200-154299000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:154297200-154299000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:154297200-154299000	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:154297200-154299000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:154297200-154299000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:154297200-154299000	Active TSS	Fetal Kidney	kidney
47	chr1:154297200-154299000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:154297200-154299000	Active TSS	Ovary	ovary
49	chr1:154297200-154299000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr1:154297200-154299000	Active TSS	A549	lung

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