Variant report

Variant	rs144685825
Chromosome Location	chr1:154299009-154299010
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:154298880-154299030	GM12875	blood:	n/a	n/a
2	CTCF	chr1:154298900-154299050	A549	lung:	n/a	n/a
3	POLR2A	chr1:154298599-154299416	HUVEC	blood vessel:	n/a	n/a
4	TBP	chr1:154298637-154299054	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:154298880-154299030	GM12870	blood:	n/a	n/a
6	POLR2A	chr1:154298464-154299740	PBDE	blood:	n/a	n/a
7	ATF2	chr1:154298534-154299012	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:154298591-154299022	HCT-116	colon:	n/a	n/a
9	HCFC1	chr1:154298617-154299138	K562	blood:	n/a	n/a
10	MAX	chr1:154298771-154299118	K562	blood:	n/a	n/a
11	POLR2A	chr1:154298484-154299169	U87	brain:	n/a	n/a
12	POLR2A	chr1:154298369-154299648	PFSK-1	brain:	n/a	n/a
13	CTCF	chr1:154298552-154299203	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:154298662-154299136	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr1:154298548-154299020	A549	lung:	n/a	n/a
16	POLR2A	chr1:154297174-154299113	HepG2	liver:	n/a	n/a
17	MAX	chr1:154298685-154299186	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:154298294-154299510	A549	lung:	n/a	n/a
19	RAD21	chr1:154298621-154299158	MCF-7	breast:	n/a	n/a
20	MAX	chr1:154298290-154299148	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:154298685-154299049	A549	lung:	n/a	n/a
22	CTCF	chr1:154298644-154299068	A549	lung:	n/a	n/a
23	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
24	MAX	chr1:154298727-154299127	K562	blood:	n/a	n/a
25	ZBTB7A	chr1:154298736-154299032	K562	blood:	n/a	n/a
26	ATF2	chr1:154298718-154299024	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:154297035-154299414	H1-neurons	neurons:	n/a	n/a
28	MYC	chr1:154298824-154299070	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr1:154297981-154299172	K562	blood:	n/a	n/a
30	CTCF	chr1:154298578-154299105	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr1:154298632-154299009	K562	blood:	n/a	n/a
32	SIN3AK20	chr1:154298725-154299051	SK-N-SH	brain:	n/a	n/a
33	ZNF143	chr1:154298683-154299108	H1-hESC	embryonic stem cell:	n/a	chr1:154298886-154298896
34	MYC	chr1:154298407-154299157	K562	blood:	n/a	n/a
35	YY1	chr1:154298616-154299042	K562	blood:	n/a	n/a
36	UBTF	chr1:154298541-154299056	K562	blood:	n/a	n/a
37	POLR2A	chr1:154298619-154299086	SK-N-SH	brain:	n/a	n/a
38	YY1	chr1:154298661-154299047	SK-N-SH_RA	brain:	n/a	n/a
39	MAX	chr1:154298735-154299151	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr1:154298553-154299306	K562	blood:	n/a	n/a
41	CTCF	chr1:154298626-154299125	K562	blood:	n/a	n/a
42	MYC	chr1:154298779-154299025	MCF10A-Er-Src	breast:	n/a	n/a
43	MXI1	chr1:154298749-154299049	H1-hESC	embryonic stem cell:	n/a	n/a
44	NR2F2	chr1:154298570-154299321	K562	blood:	n/a	n/a
45	RAD21	chr1:154298685-154299074	HepG2	liver:	n/a	n/a
46	TAF1	chr1:154298559-154299085	PFSK-1	brain:	n/a	n/a
47	MAX	chr1:154298315-154299360	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr1:154298678-154299050	GM12878	blood:	n/a	n/a
49	SIN3A	chr1:154297071-154299239	H1-hESC	embryonic stem cell:	n/a	chr1:154298851-154298859 chr1:154298384-154298395 chr1:154298686-154298696
50	TEAD4	chr1:154298485-154299094	K562	blood:	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	chr1:154298791..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	chr1:153937858..153939695-chr1:154298262..154300204,2	MCF-7	breast:
9	chr1:154298706..154299255-chr1:154307489..154308085,2	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
ENSG00000228013	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000201129	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000143515	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154297000-154299200	Active TSS	NHDF-Ad	bronchial
2	chr1:154297000-154299400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:154297200-154299200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:154297200-154299200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:154297200-154299200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:154297200-154299200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:154297200-154299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:154297200-154299400	Active TSS	NHLF	lung
9	chr1:154297200-154299600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:154297200-154299600	Active TSS	Aorta	Aorta
11	chr1:154297400-154299200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:154297400-154299200	Active TSS	Psoas Muscle	Psoas
13	chr1:154298200-154299400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr1:154298200-154299400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr1:154298200-154300000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:154298200-154300600	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr1:154298200-154301600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:154298400-154299200	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr1:154298400-154299200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:154298400-154299200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr1:154298400-154299200	Flanking Active TSS	Esophagus	oesophagus
22	chr1:154298400-154299200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr1:154298400-154299200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
24	chr1:154298400-154299200	Flanking Active TSS	GM12878-XiMat	blood
25	chr1:154298400-154299400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:154298400-154299400	Flanking Active TSS	Fetal Thymus	thymus
27	chr1:154298400-154299600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:154298400-154299600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:154298400-154299600	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr1:154298400-154299800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:154298400-154300800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr1:154298400-154300800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:154298400-154301000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr1:154298400-154301000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:154298400-154301000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:154298400-154301000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:154298400-154301800	Flanking Active TSS	Dnd41	blood
38	chr1:154298400-154302000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr1:154298400-154302200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:154298600-154299200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr1:154298600-154299200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr1:154298600-154299200	Flanking Active TSS	Fetal Brain Male	brain
43	chr1:154298600-154299200	Flanking Active TSS	Fetal Stomach	stomach
44	chr1:154298600-154299200	Flanking Active TSS	Lung	lung
45	chr1:154298600-154299400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:154298600-154299400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
47	chr1:154298600-154299400	Flanking Active TSS	Hela-S3	cervix
48	chr1:154298600-154299600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:154298600-154299800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:154298600-154299800	Flanking Active TSS	Brain Germinal Matrix	brain

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