Variant report

Variant	rs57853329
Chromosome Location	chr1:185127225-185127226
allele	A/G
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	POLR2A	chr1:185125059-185127295	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:185124997-185127327	K562	blood:	n/a	n/a
3	STAT3	chr1:185127171-185127371	GM12878	blood:	n/a	n/a
4	NR2F2	chr1:185125316-185127328	K562	blood:	n/a	n/a
5	HEY1	chr1:185125767-185127236	K562	blood:	n/a	chr1:185126689-185126704 chr1:185125875-185125890 chr1:185125884-185125899
6	SMARCB1	chr1:185125340-185127228	Hela-S3	cervix:	n/a	n/a
7	TCF7L2	chr1:185125281-185127266	Hela-S3	cervix:	n/a	n/a
8	ZMIZ1	chr1:185127164-185127440	K562	blood:	n/a	n/a
9	SIN3A	chr1:185125055-185127329	H1-hESC	embryonic stem cell:	n/a	chr1:185127300-185127314
10	CHD2	chr1:185125515-185127235	K562	blood:	n/a	chr1:185126357-185126367
11	POLR2A	chr1:185125054-185127242	K562	blood:	n/a	n/a
12	TBP	chr1:185125019-185127261	K562	blood:	n/a	n/a
13	TBL1XR1	chr1:185126011-185127372	K562	blood:	n/a	n/a
14	SMARCC1	chr1:185125436-185127488	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr1:185127182-185127575	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr1:185125305-185127237	K562	blood:	n/a	n/a
17	GATA1	chr1:185125769-185127511	PBDE	blood:	n/a	chr1:185126805-185126815 chr1:185126631-185126639 chr1:185126741-185126748
18	POLR2A	chr1:185125229-185127292	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr1:185124897-185127228	K562	blood:	n/a	n/a
20	STAT3	chr1:185127178-185127529	MCF10A-Er-Src	breast:	n/a	n/a
21	ARID3A	chr1:185127188-185127502	K562	blood:	n/a	n/a
22	ZNF384	chr1:185127061-185127233	K562	blood:	n/a	n/a
23	PML	chr1:185124835-185127277	GM12878	blood:	n/a	n/a
24	HCFC1	chr1:185124775-185127664	Hela-S3	cervix:	n/a	n/a
25	JUND	chr1:185125052-185127599	K562	blood:	n/a	chr1:185126547-185126558 chr1:185126294-185126302 chr1:185125357-185125366 chr1:185126380-185126389
26	ZNF143	chr1:185127134-185127301	K562	blood:	n/a	n/a
27	POLR2A	chr1:185124269-185127513	PBDE	blood:	n/a	n/a
28	MAX	chr1:185125627-185127334	GM12878	blood:	n/a	n/a
29	REST	chr1:185127105-185127471	K562	blood:	n/a	chr1:185127299-185127313
30	BHLHE40	chr1:185125716-185127447	K562	blood:	n/a	chr1:185126690-185126706

No.	Distal block	Cell Line	Cell type
1	chr1:185013842..185016800-chr1:185124120..185127493,5	MCF-7	breast:
2	chr1:185124700..185128224-chr1:185139265..185140988,3	K562	blood:
3	chr1:185124212..185128355-chr1:185283797..185287901,7	K562	blood:
4	chr1:184721859..184724654-chr1:185126581..185128573,2	MCF-7	breast:
5	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:
6	chr1:185125770..185127987-chr1:185284886..185287172,2	MCF-7	breast:
7	chr1:184683246..184684894-chr1:185126908..185129341,2	K562	blood:
8	chr1:184941281..184944338-chr1:185124829..185129491,4	K562	blood:
9	chr1:184941416..184944338-chr1:185125198..185127765,2	K562	blood:
10	chr1:185124975..185127830-chr1:185279297..185282140,2	K562	blood:
11	chr1:185123673..185127024-chr1:185127096..185129642,5	MCF-7	breast:
12	chr1:185124212..185127675-chr1:185284433..185287801,3	K562	blood:
13	chr1:185124896..185128464-chr1:185139300..185142346,3	MCF-7	breast:
14	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:

Variant related genes	Relation type
TRMT1L	TF binding region
ENSG00000121481	Chromatin interaction
ENSG00000121486	Chromatin interaction
ENSG00000231084	Chromatin interaction
ENSG00000116406	Chromatin interaction
ENSG00000273004	Chromatin interaction
ENSG00000116668	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs41529047	1.00[AMR][1000 genomes]
rs55756628	1.00[AMR][1000 genomes]
rs56110440	1.00[AMR][1000 genomes]
rs60738706	1.00[AMR][1000 genomes]
rs74134412	1.00[AMR][1000 genomes]
rs74134421	0.82[AFR][1000 genomes]
rs74134422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134425	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185124000-185127400	Active TSS	K562	blood
2	chr1:185124200-185127600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:185124200-185128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:185124400-185127600	Active TSS	Colonic Mucosa	Colon
5	chr1:185124600-185127400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:185124600-185127400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:185124600-185127400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:185124600-185127400	Active TSS	Fetal Lung	lung
9	chr1:185124600-185127400	Active TSS	A549	lung
10	chr1:185124600-185127600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:185124600-185127600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:185124600-185127600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:185124600-185127600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:185124600-185127600	Active TSS	Fetal Intestine Small	intestine
15	chr1:185124600-185127600	Active TSS	NHDF-Ad	bronchial
16	chr1:185124600-185127800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185124600-185127800	Active TSS	GM12878-XiMat	blood
18	chr1:185124600-185127800	Active TSS	NHLF	lung
19	chr1:185124800-185127400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:185124800-185127400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:185124800-185127400	Active TSS	Aorta	Aorta
22	chr1:185124800-185127400	Active TSS	Duodenum Mucosa	Duodenum
23	chr1:185124800-185127400	Active TSS	Fetal Intestine Large	intestine
24	chr1:185124800-185127400	Active TSS	Fetal Stomach	stomach
25	chr1:185124800-185127400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr1:185124800-185127400	Active TSS	HSMM	muscle
27	chr1:185124800-185127600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:185124800-185127600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:185124800-185127600	Active TSS	Colon Smooth Muscle	Colon
30	chr1:185124800-185127600	Active TSS	Psoas Muscle	Psoas
31	chr1:185124800-185127600	Active TSS	Right Ventricle	heart
32	chr1:185125000-185127400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:185125000-185127400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:185125000-185127400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:185125000-185127400	Active TSS	Fetal Muscle Trunk	muscle
36	chr1:185125000-185127400	Active TSS	Gastric	stomach
37	chr1:185125000-185127400	Active TSS	Left Ventricle	heart
38	chr1:185125000-185127400	Active TSS	Pancreas	Pancrea
39	chr1:185125000-185127400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr1:185125000-185127400	Active TSS	Stomach Mucosa	stomach
41	chr1:185125000-185127400	Active TSS	NHEK	skin
42	chr1:185125000-185127600	Active TSS	Ovary	ovary
43	chr1:185125200-185127400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:185125200-185127400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr1:185125200-185127400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:185125200-185127400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:185125200-185127400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr1:185125200-185127400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:185125200-185127400	Active TSS	Brain Anterior Caudate	brain
50	chr1:185125200-185127400	Active TSS	Esophagus	oesophagus

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