Variant report

Variant	rs545487843
Chromosome Location	chr1:153963917-153963918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153962963-153963944	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:153962914-153963937	Raji	blood:	n/a	n/a
3	POLR2A	chr1:153962948-153964841	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:153962877-153964094	SK-N-SH	brain:	n/a	n/a
5	JUND	chr1:153962736-153964062	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:153962781-153968523	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:153962895-153968418	K562	blood:	n/a	n/a
8	POLR2A	chr1:153962878-153963998	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:153962932-153964791	HepG2	liver:	n/a	n/a
10	GABPA	chr1:153962585-153964082	MCF-7	breast:	n/a	chr1:153963225-153963232
11	POLR2A	chr1:153962997-153968485	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:153962982-153964707	GM18505	blood:	n/a	n/a
13	POLR2A	chr1:153962913-153964290	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:153962770-153963944	HL-60	blood:	n/a	n/a
15	POLR2A	chr1:153963063-153964040	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:153962799-153964026	HCT-116	colon:	n/a	n/a
17	TAF7	chr1:153962933-153964049	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:153962942-153963998	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr1:153962934-153964192	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr1:153962903-153964063	GM19099	blood:	n/a	n/a
21	POLR2A	chr1:153962899-153964217	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr1:153962866-153964660	PBDE	blood:	n/a	n/a
23	POLR2A	chr1:153963007-153964601	GM12891	blood:	n/a	n/a
24	POLR2A	chr1:153962955-153964181	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:153962763-153964914	U87	brain:	n/a	n/a
26	MAZ	chr1:153962760-153964069	IMR90	lung:	n/a	n/a
27	POLR2A	chr1:153962877-153968982	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr1:153962918-153964051	K562	blood:	n/a	n/a
29	POLR2A	chr1:153962946-153964697	K562	blood:	n/a	n/a
30	POLR2A	chr1:153962975-153964708	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:153962912-153967853	GM12892	blood:	n/a	n/a
32	CHD1	chr1:153963030-153964865	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:153962884-153969250	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr1:153962902-153967332	GM12892	blood:	n/a	n/a
35	POLR2A	chr1:153962875-153969575	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr1:153962970-153964244	K562	blood:	n/a	n/a
37	POLR2A	chr1:153962850-153967268	GM12878	blood:	n/a	n/a
38	CHD1	chr1:153962737-153964961	IMR90	lung:	n/a	n/a
39	POLR2A	chr1:153962808-153964188	HL-60	blood:	n/a	n/a
40	POLR2A	chr1:153962961-153964791	GM12892	blood:	n/a	n/a
41	TCF7L2	chr1:153962345-153964020	HEK293	kidney:	n/a	chr1:153963139-153963153
42	MXI1	chr1:153962744-153964449	IMR90	lung:	n/a	n/a
43	POLR2A	chr1:153962920-153964809	GM12878	blood:	n/a	n/a
44	WRNIP1	chr1:153962957-153964183	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:153962920-153964789	GM12891	blood:	n/a	n/a
46	POLR2A	chr1:153963000-153963947	GM19193	blood:	n/a	n/a
47	POLR2A	chr1:153962893-153964720	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:153963092-153964705	A549	lung:	n/a	n/a
49	POLR2A	chr1:153962906-153964689	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:153962874-153963928	K562	blood:	n/a	n/a

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:153962369..153964805-chr1:154243433..154246826,4	MCF-7	breast:
2	chr1:153651029..153654025-chr1:153963195..153965197,2	MCF-7	breast:
3	chr1:153963253..153964823-chr16:70415350..70416977,2	MCF-7	breast:
4	chr1:153963702..153965277-chr1:154515258..154516911,2	K562	blood:
5	chr1:153587320..153590389-chr1:153961977..153964673,3	MCF-7	breast:
6	chr1:153765340..153768610-chr1:153963132..153965319,3	K562	blood:
7	chr1:153963264..153964008-chr11:45939253..45940040,2	Hela-S3	cervix:
8	chr1:153963387..153964006-chr15:65588101..65588979,2	Hela-S3	cervix:
9	chr1:153791929..153794477-chr1:153963416..153966079,2	K562	blood:
10	chr1:153745179..153749280-chr1:153961747..153968478,7	MCF-7	breast:
11	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
12	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
13	chr1:153512598..153514775-chr1:153963105..153964823,2	K562	blood:
14	chr1:70876781..70877378-chr1:153963481..153964310,2	Hela-S3	cervix:
15	chr1:153962867..153965202-chr1:154154379..154156785,3	MCF-7	breast:
16	chr1:153962189..153967020-chr1:154149779..154153923,7	MCF-7	breast:
17	chr1:153961925..153965410-chr1:154146555..154149414,3	MCF-7	breast:
18	chr1:153603477..153606996-chr1:153962238..153964716,3	K562	blood:
19	chr1:153699945..153701474-chr1:153962186..153964682,2	K562	blood:
20	chr1:153771964..153774783-chr1:153963407..153965069,2	K562	blood:
21	chr1:153962483..153964703-chr1:154162511..154166249,3	MCF-7	breast:
22	chr1:153956669..153960770-chr1:153962921..153965060,7	MCF-7	breast:
23	chr1:153699974..153702840-chr1:153961694..153964834,3	K562	blood:
24	chr1:153962343..153963954-chr1:154245938..154247539,2	K562	blood:
25	chr1:153642259..153645171-chr1:153961754..153965588,6	K562	blood:
26	chr1:153963157..153965644-chr1:154243334..154246314,2	K562	blood:
27	chr1:153961765..153965852-chr1:154152407..154156955,8	K562	blood:
28	chr1:43406457..43407090-chr1:153963456..153963963,2	Hela-S3	cervix:
29	chr1:153963267..153965120-chr1:154971988..154974944,2	K562	blood:
30	chr1:153537679..153540436-chr1:153962275..153964884,2	K562	blood:
31	chr1:153652530..153654579-chr1:153961932..153964850,2	K562	blood:
32	chr1:153962946..153964681-chr1:154191539..154193335,3	MCF-7	breast:
33	chr1:153961745..153965852-chr1:154153352..154156776,9	K562	blood:
34	chr1:153961971..153964744-chr6:27100182..27102088,2	K562	blood:
35	chr1:153754951..153758760-chr1:153962914..153965796,4	K562	blood:
36	chr1:153536925..153539179-chr1:153962275..153964605,2	K562	blood:
37	chr1:153586138..153590435-chr1:153962533..153966036,4	K562	blood:
38	chr1:153598208..153601029-chr1:153962097..153964477,2	K562	blood:
39	chr1:153747289..153750894-chr1:153961895..153964874,3	MCF-7	breast:
40	chr1:153603477..153607903-chr1:153962238..153965498,5	K562	blood:
41	chr1:153605618..153608356-chr1:153961854..153964729,2	MCF-7	breast:
42	chr1:153961855..153964878-chr1:154149314..154153044,5	K562	blood:
43	chr1:153917215..153920392-chr1:153961808..153965282,6	K562	blood:
44	chr1:153963315..153963930-chr11:9482355..9482872,2	Hela-S3	cervix:
45	chr1:153905142..153906836-chr1:153961384..153963973,2	K562	blood:
46	chr1:153745383..153747706-chr1:153962241..153964631,3	K562	blood:
47	chr1:153641137..153644859-chr1:153962268..153964805,3	MCF-7	breast:
48	chr1:153642202..153645171-chr1:153961721..153964784,6	K562	blood:
49	chr1:153629459..153632821-chr1:153961630..153966753,5	K562	blood:
50	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231416	TF binding region
ENSG00000207039	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000196420	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000231827	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000116761	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000215938	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000169418	Chromatin interaction
ENSG00000143569	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	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	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	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
5	nsv946401	chr1:153963837-153965429	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	37 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	chr1:153962600-153964000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:153962600-153964000	Active TSS	Brain Anterior Caudate	brain
3	chr1:153962600-153964000	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:153962800-153964000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:153962800-153964000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:153962800-153964000	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:153962800-153964000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:153962800-153964000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr1:153962800-153964000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr1:153962800-153964000	Active TSS	Fetal Brain Female	brain
11	chr1:153962800-153964000	Active TSS	Fetal Intestine Large	intestine
12	chr1:153962800-153964000	Active TSS	Fetal Lung	lung
13	chr1:153962800-153964000	Active TSS	Fetal Muscle Trunk	muscle
14	chr1:153962800-153964000	Active TSS	Fetal Muscle Leg	muscle
15	chr1:153962800-153964000	Active TSS	Fetal Stomach	stomach
16	chr1:153962800-153964000	Active TSS	Thymus	Thymus
17	chr1:153962800-153964000	Active TSS	NH-A	brain
18	chr1:153962800-153964000	Active TSS	NHDF-Ad	bronchial
19	chr1:153962800-153964200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:153962800-153964200	Active TSS	Aorta	Aorta
21	chr1:153962800-153964200	Active TSS	Brain Hippocampus Middle	brain
22	chr1:153962800-153964200	Active TSS	HSMMtube	muscle
23	chr1:153962800-153964400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:153962800-153964400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:153962800-153964400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:153962800-153964400	Active TSS	Fetal Intestine Small	intestine
27	chr1:153962800-153964400	Active TSS	Left Ventricle	heart
28	chr1:153962800-153964400	Active TSS	Ovary	ovary
29	chr1:153962800-153964400	Active TSS	Psoas Muscle	Psoas
30	chr1:153962800-153964600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:153962800-153965200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:153962800-153965600	Active TSS	Right Atrium	heart
33	chr1:153963000-153964000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:153963000-153964000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:153963000-153964000	Active TSS	Primary T cells fromperipheralblood	blood
36	chr1:153963000-153964000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:153963000-153964000	Active TSS	Brain Angular Gyrus	brain
38	chr1:153963000-153964000	Active TSS	Esophagus	oesophagus
39	chr1:153963000-153964000	Active TSS	Placenta	Placenta
40	chr1:153963000-153964000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:153963000-153964200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:153963000-153964200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:153963000-153964200	Active TSS	Fetal Kidney	kidney
44	chr1:153963000-153964200	Active TSS	GM12878-XiMat	blood
45	chr1:153963000-153964400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:153963000-153964400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:153963200-153964000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:153963200-153964000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr1:153963200-153964000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr1:153963200-153964000	Active TSS	Small Intestine	intestine

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