Variant report

Variant	rs61738945
Chromosome Location	chr1:153965322-153965323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153965139-153965696	HL-60	blood:	n/a	n/a
2	POLR2A	chr1:153964964-153965887	Hela-S3	cervix:	n/a	n/a
3	HEY1	chr1:153964968-153965661	K562	blood:	n/a	n/a
4	MXI1	chr1:153965305-153965538	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:153965118-153967275	HepG2	liver:	n/a	n/a
6	BCLAF1	chr1:153965191-153965737	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:153962781-153968523	GM12892	blood:	n/a	n/a
8	MTA3	chr1:153965046-153965879	GM12878	blood:	n/a	n/a
9	SIN3A	chr1:153965273-153965359	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:153962895-153968418	K562	blood:	n/a	n/a
11	POLR2A	chr1:153962997-153968485	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:153965052-153967793	GM18505	blood:	n/a	n/a
13	POLR2A	chr1:153965005-153965605	HCT-116	colon:	n/a	n/a
14	POLR2A	chr1:153965057-153968372	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:153964943-153967891	K562	blood:	n/a	n/a
16	POLR2A	chr1:153964847-153965890	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:153965004-153965781	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:153964976-153968525	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr1:153965130-153965757	PBDE	blood:	n/a	n/a
20	POLR2A	chr1:153965123-153965634	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:153964922-153965872	U87	brain:	n/a	n/a
22	POLR2A	chr1:153964981-153965784	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr1:153965183-153968489	Hela-S3	cervix:	n/a	n/a
24	ATF2	chr1:153965256-153965748	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:153965066-153967273	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:153965028-153965771	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr1:153962877-153968982	MCF10A-Er-Src	breast:	n/a	n/a
28	MAFF	chr1:153965154-153965654	K562	blood:	n/a	n/a
29	POLR2A	chr1:153965222-153965417	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:153964797-153965882	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:153965055-153965918	K562	blood:	n/a	n/a
32	POLR2A	chr1:153964985-153965852	K562	blood:	n/a	n/a
33	POLR2A	chr1:153962912-153967853	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:153962884-153969250	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr1:153964793-153967747	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:153962902-153967332	GM12892	blood:	n/a	n/a
37	POLR2A	chr1:153965289-153965766	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:153962875-153969575	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr1:153965012-153965603	HL-60	blood:	n/a	n/a
40	POLR2A	chr1:153962850-153967268	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:153965038-153965881	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:153965012-153965392	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:153965069-153969409	A549	lung:	n/a	n/a
44	POLR2A	chr1:153965000-153965785	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr1:153965005-153965852	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:153965217-153965481	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:153964987-153967906	GM12891	blood:	n/a	n/a
48	POLR2A	chr1:153964996-153965816	GM12891	blood:	n/a	n/a
49	POLR2A	chr1:153965082-153965807	HUVEC	blood vessel:	n/a	n/a
50	HEY1	chr1:153965126-153965789	HepG2	liver:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153963924..153966450-chr1:154110406..154113402,2	K562	blood:
2	chr1:153791929..153794477-chr1:153963416..153966079,2	K562	blood:
3	chr1:153745179..153749280-chr1:153961747..153968478,7	MCF-7	breast:
4	chr1:153961881..153966027-chr1:154151379..154156773,10	MCF-7	breast:
5	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
6	chr1:153964844..153966669-chr1:154089731..154091606,2	MCF-7	breast:
7	chr1:153962189..153967020-chr1:154149779..154153923,7	MCF-7	breast:
8	chr1:153961925..153965410-chr1:154146555..154149414,3	MCF-7	breast:
9	chr1:153642259..153645171-chr1:153961754..153965588,6	K562	blood:
10	chr1:153963157..153965644-chr1:154243334..154246314,2	K562	blood:
11	chr1:153961765..153965852-chr1:154152407..154156955,8	K562	blood:
12	chr1:153961745..153965852-chr1:154153352..154156776,9	K562	blood:
13	chr1:153754951..153758760-chr1:153962914..153965796,4	K562	blood:
14	chr1:153586138..153590435-chr1:153962533..153966036,4	K562	blood:
15	chr1:153965120..153966091-chr18:12838469..12839213,2	Hela-S3	cervix:
16	chr1:153603477..153607903-chr1:153962238..153965498,5	K562	blood:
17	chr1:153964838..153965772-chr15:83876162..83876909,2	Hela-S3	cervix:
18	chr1:93810969..93811917-chr1:153965058..153965620,2	Hela-S3	cervix:
19	chr1:153965322..153967162-chr1:154193447..154195978,2	K562	blood:
20	chr1:153629459..153632821-chr1:153961630..153966753,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231416	TF binding region
ENSG00000189171	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000207039	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000160679	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11808118	1.00[AMR][1000 genomes]
rs34192791	1.00[AMR][1000 genomes]
rs57112433	1.00[AMR][1000 genomes]
rs6682725	1.00[AMR][1000 genomes]

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	chr1:153962800-153965600	Active TSS	Right Atrium	heart
2	chr1:153963200-153965400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:153963200-153965600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr1:153963400-153965600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr1:153963400-153966800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr1:153963600-153965400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr1:153963600-153965600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr1:153963600-153965600	Transcr. at gene 5' and 3'	A549	lung
9	chr1:153963600-153965600	Transcr. at gene 5' and 3'	K562	blood
10	chr1:153963600-153965600	Transcr. at gene 5' and 3'	NHEK	skin
11	chr1:153963600-153965600	Transcr. at gene 5' and 3'	NHLF	lung
12	chr1:153963800-153965400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
13	chr1:153963800-153965400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
14	chr1:153963800-153965600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:153963800-153965600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
16	chr1:153963800-153965600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
17	chr1:153963800-153965600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
18	chr1:153963800-153965600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:153963800-153965600	Transcr. at gene 5' and 3'	Hela-S3	cervix
20	chr1:153964000-153965400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:153964000-153965600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:153964000-153965800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:153964000-153966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:153964000-153969800	Weak transcription	Esophagus	oesophagus
25	chr1:153964200-153965400	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:153964200-153965400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
27	chr1:153964200-153965400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:153964200-153965400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:153964200-153965400	Enhancers	Stomach Mucosa	stomach
30	chr1:153964200-153965600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:153964200-153965600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
32	chr1:153964200-153965600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
33	chr1:153964200-153965600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:153964200-153965600	Genic enhancers	Fetal Brain Male	brain
35	chr1:153964200-153965800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:153964200-153965800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:153964200-153965800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
38	chr1:153964200-153966800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:153964200-153969000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:153964400-153965400	Genic enhancers	Fetal Muscle Leg	muscle
41	chr1:153964400-153965400	Genic enhancers	Spleen	Spleen
42	chr1:153964400-153965400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
43	chr1:153964400-153965600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
44	chr1:153964400-153965600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:153964400-153965600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:153964400-153965600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:153964400-153965600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
48	chr1:153964400-153965600	Genic enhancers	Fetal Kidney	kidney
49	chr1:153964400-153965800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
50	chr1:153964400-153966600	Genic enhancers	Primary B cells from peripheral blood	blood

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