Variant report

Variant	rs375509510
Chromosome Location	chr1:153964170-153964171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153962948-153964841	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:153962781-153968523	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:153962895-153968418	K562	blood:	n/a	n/a
4	POLR2A	chr1:153962932-153964791	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:153962997-153968485	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:153962982-153964707	GM18505	blood:	n/a	n/a
7	POLR2A	chr1:153962913-153964290	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:153962934-153964192	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr1:153962899-153964217	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr1:153962866-153964660	PBDE	blood:	n/a	n/a
11	POLR2A	chr1:153963007-153964601	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:153962955-153964181	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:153962763-153964914	U87	brain:	n/a	n/a
14	POLR2A	chr1:153963984-153964754	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:153962877-153968982	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr1:153964118-153964946	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr1:153962946-153964697	K562	blood:	n/a	n/a
18	POLR2A	chr1:153962975-153964708	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:153962912-153967853	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:153964071-153964768	U87	brain:	n/a	n/a
21	CHD1	chr1:153963030-153964865	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:153962884-153969250	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:153962902-153967332	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:153962875-153969575	H1-hESC	embryonic stem cell:	n/a	n/a
25	HEY1	chr1:153962970-153964244	K562	blood:	n/a	n/a
26	POLR2A	chr1:153962850-153967268	GM12878	blood:	n/a	n/a
27	CHD1	chr1:153962737-153964961	IMR90	lung:	n/a	n/a
28	POLR2A	chr1:153962808-153964188	HL-60	blood:	n/a	n/a
29	POLR2A	chr1:153964127-153964693	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr1:153962961-153964791	GM12892	blood:	n/a	n/a
31	MXI1	chr1:153962744-153964449	IMR90	lung:	n/a	n/a
32	POLR2A	chr1:153962920-153964809	GM12878	blood:	n/a	n/a
33	WRNIP1	chr1:153962957-153964183	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:153962920-153964789	GM12891	blood:	n/a	n/a
35	POLR2A	chr1:153962893-153964720	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:153963092-153964705	A549	lung:	n/a	n/a
37	POLR2A	chr1:153962906-153964689	HepG2	liver:	n/a	n/a
38	HEY1	chr1:153962912-153964190	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:153962725-153967624	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr1:153964064-153964768	U87	brain:	n/a	n/a
41	POLR2A	chr1:153962889-153964764	GM12891	blood:	n/a	n/a
42	HCFC1	chr1:153962321-153964372	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:153963982-153964184	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:153962839-153967806	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:153963029-153964704	K562	blood:	n/a	n/a
46	POLR2A	chr1:153962907-153964221	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:153964060-153964753	HCT-116	colon:	n/a	n/a
48	POLR2A	chr1:153962967-153964920	GM12891	blood:	n/a	n/a
49	POLR2A	chr1:153963022-153964829	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:153962757-153964963	U87	brain:	n/a	n/a

No data

(count:48 , 50 per page) page: 1

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	chr1:153964000..153964634-chr5:150137543..150138443,2	Hela-S3	cervix:
5	chr1:153963702..153965277-chr1:154515258..154516911,2	K562	blood:
6	chr1:153587320..153590389-chr1:153961977..153964673,3	MCF-7	breast:
7	chr1:153963924..153966450-chr1:154110406..154113402,2	K562	blood:
8	chr1:153765340..153768610-chr1:153963132..153965319,3	K562	blood:
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	chr1:153963961..153964489-chr17:19280358..19281310,2	Hela-S3	cervix:
23	chr1:153956669..153960770-chr1:153962921..153965060,7	MCF-7	breast:
24	chr1:153699974..153702840-chr1:153961694..153964834,3	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	chr1:153963267..153965120-chr1:154971988..154974944,2	K562	blood:
29	chr1:153537679..153540436-chr1:153962275..153964884,2	K562	blood:
30	chr1:153652530..153654579-chr1:153961932..153964850,2	K562	blood:
31	chr1:153962946..153964681-chr1:154191539..154193335,3	MCF-7	breast:
32	chr1:153961745..153965852-chr1:154153352..154156776,9	K562	blood:
33	chr1:153961971..153964744-chr6:27100182..27102088,2	K562	blood:
34	chr1:153754951..153758760-chr1:153962914..153965796,4	K562	blood:
35	chr1:153536925..153539179-chr1:153962275..153964605,2	K562	blood:
36	chr1:153586138..153590435-chr1:153962533..153966036,4	K562	blood:
37	chr1:153598208..153601029-chr1:153962097..153964477,2	K562	blood:
38	chr1:153747289..153750894-chr1:153961895..153964874,3	MCF-7	breast:
39	chr1:153603477..153607903-chr1:153962238..153965498,5	K562	blood:
40	chr1:153605618..153608356-chr1:153961854..153964729,2	MCF-7	breast:
41	chr1:153961855..153964878-chr1:154149314..154153044,5	K562	blood:
42	chr1:153917215..153920392-chr1:153961808..153965282,6	K562	blood:
43	chr1:153745383..153747706-chr1:153962241..153964631,3	K562	blood:
44	chr1:153641137..153644859-chr1:153962268..153964805,3	MCF-7	breast:
45	chr1:153642202..153645171-chr1:153961721..153964784,6	K562	blood:
46	chr1:153629459..153632821-chr1:153961630..153966753,5	K562	blood:
47	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:
48	chr1:153963252..153965177-chr1:154158511..154161067,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231416	TF binding region
ENSG00000108641	Chromatin interaction
ENSG00000207039	Chromatin interaction
ENSG00000231827	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000116761	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000132912	Chromatin interaction
ENSG00000169418	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000166484	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000196420	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000215938	Chromatin interaction
ENSG00000271853	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	chr1:153962800-153964200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:153962800-153964200	Active TSS	Aorta	Aorta
3	chr1:153962800-153964200	Active TSS	Brain Hippocampus Middle	brain
4	chr1:153962800-153964200	Active TSS	HSMMtube	muscle
5	chr1:153962800-153964400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:153962800-153964400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:153962800-153964400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:153962800-153964400	Active TSS	Fetal Intestine Small	intestine
9	chr1:153962800-153964400	Active TSS	Left Ventricle	heart
10	chr1:153962800-153964400	Active TSS	Ovary	ovary
11	chr1:153962800-153964400	Active TSS	Psoas Muscle	Psoas
12	chr1:153962800-153964600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:153962800-153965200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:153962800-153965600	Active TSS	Right Atrium	heart
15	chr1:153963000-153964200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr1:153963000-153964200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr1:153963000-153964200	Active TSS	Fetal Kidney	kidney
18	chr1:153963000-153964200	Active TSS	GM12878-XiMat	blood
19	chr1:153963000-153964400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:153963000-153964400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:153963200-153964200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:153963200-153964200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:153963200-153964200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:153963200-153964200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:153963200-153964200	Active TSS	Gastric	stomach
26	chr1:153963200-153964200	Active TSS	Stomach Mucosa	stomach
27	chr1:153963200-153964400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:153963200-153964400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:153963200-153964600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:153963200-153964600	Active TSS	Lung	lung
31	chr1:153963200-153964600	Active TSS	Pancreas	Pancrea
32	chr1:153963200-153964800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
33	chr1:153963200-153964800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
34	chr1:153963200-153965000	Active TSS	Right Ventricle	heart
35	chr1:153963200-153965400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:153963200-153965600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr1:153963400-153965600	Transcr. at gene 5' and 3'	Dnd41	blood
38	chr1:153963400-153966800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
39	chr1:153963600-153964200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:153963600-153964400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
41	chr1:153963600-153964400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:153963600-153964600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:153963600-153964600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr1:153963600-153964600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr1:153963600-153964800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
46	chr1:153963600-153965400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr1:153963600-153965600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
48	chr1:153963600-153965600	Transcr. at gene 5' and 3'	A549	lung
49	chr1:153963600-153965600	Transcr. at gene 5' and 3'	K562	blood
50	chr1:153963600-153965600	Transcr. at gene 5' and 3'	NHEK	skin

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