Variant report

Variant	rs186600450
Chromosome Location	chr1:93298917-93298918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:93297290-93298995	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:93297260-93298963	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:93297355-93300997	K562	blood:	n/a	n/a
4	SIN3A	chr1:93297351-93299078	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:93298904-93299594	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr1:93297366-93299556	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:93297356-93298947	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:93297232-93298942	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:93297233-93299346	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr1:93297213-93298936	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:93298835-93298932	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:93298640-93298933	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:93297218-93301331	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr1:93298865-93299374	HepG2	liver:	n/a	n/a
15	MXI1	chr1:93296930-93298928	SK-N-SH	brain:	n/a	n/a
16	CHD1	chr1:93297637-93299369	H1-hESC	embryonic stem cell:	n/a	chr1:93297859-93297869
17	POLR2A	chr1:93297257-93298989	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:93297255-93300912	GM12878	blood:	n/a	n/a
19	CHD1	chr1:93297387-93299063	GM12878	blood:	n/a	chr1:93297859-93297869
20	POLR2A	chr1:93297107-93299950	PFSK-1	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92830903..92832617-chr1:93298801..93301374,2	MCF-7	breast:
2	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
3	chr1:93220670..93222907-chr1:93296640..93299176,3	MCF-7	breast:
4	chr1:93296297..93299381-chr1:93425183..93428047,4	K562	blood:
5	chr1:93212530..93215412-chr1:93297450..93301173,3	K562	blood:
6	chr1:93249660..93252667-chr1:93296431..93299077,5	K562	blood:
7	chr1:93256019..93258677-chr1:93296885..93300584,5	K562	blood:
8	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
9	chr1:93256221..93258760-chr1:93295783..93299962,5	K562	blood:
10	chr1:93297720..93299529-chr17:81006812..81009425,2	MCF-7	breast:
11	chr1:92764074..92765656-chr1:93296705..93299037,2	K562	blood:
12	chr1:93296076..93299049-chr1:93541677..93546567,5	K562	blood:
13	chr1:93296314..93299115-chr1:93644282..93648010,4	K562	blood:
14	chr1:93296486..93299108-chr1:93543311..93545320,3	K562	blood:

No data

Variant related genes	Relation type
RPL5	TF binding region
SNORD21	TF binding region
ENSG00000251795	TF binding region
ENSG00000234202	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000223896	Chromatin interaction
ENSG00000154511	Chromatin interaction
ENSG00000122484	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000175711	Chromatin interaction
ENSG00000117500	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000174842	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv946076	chr1:93298464-93299689	Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	13 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	chr1:93297000-93299000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:93297000-93299000	Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:93297000-93299000	Active TSS	HSMM	muscle
4	chr1:93297000-93299200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:93297000-93299200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:93297000-93299200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:93297000-93299200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:93297000-93299200	Active TSS	NHLF	lung
9	chr1:93297000-93299400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:93297000-93300000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:93297200-93299000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:93297200-93299000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:93297200-93299000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:93297200-93299000	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:93297200-93299000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:93297200-93299000	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:93297200-93299000	Active TSS	Thymus	Thymus
18	chr1:93297200-93299200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:93297200-93299200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:93297200-93299200	Active TSS	GM12878-XiMat	blood
21	chr1:93297200-93299400	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr1:93297200-93299400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:93297400-93299000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:93297400-93299000	Active TSS	Primary T cells fromperipheralblood	blood
25	chr1:93297400-93299000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:93297400-93299000	Active TSS	Brain Angular Gyrus	brain
27	chr1:93297400-93299000	Active TSS	Brain Germinal Matrix	brain
28	chr1:93297400-93299000	Active TSS	Fetal Muscle Trunk	muscle
29	chr1:93297400-93299000	Active TSS	NHDF-Ad	bronchial
30	chr1:93297400-93299200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:93297400-93299200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:93297400-93299200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:93297400-93299200	Active TSS	Brain Hippocampus Middle	brain
34	chr1:93297400-93299200	Active TSS	Brain Substantia Nigra	brain
35	chr1:93297400-93299200	Active TSS	Fetal Muscle Leg	muscle
36	chr1:93297400-93299200	Active TSS	Fetal Thymus	thymus
37	chr1:93297400-93299200	Active TSS	Right Ventricle	heart
38	chr1:93297400-93299200	Active TSS	HSMMtube	muscle
39	chr1:93297400-93299400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:93297400-93299400	Active TSS	Colonic Mucosa	Colon
41	chr1:93297400-93299400	Active TSS	Fetal Intestine Large	intestine
42	chr1:93297600-93299200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr1:93297600-93299400	Active TSS	Gastric	stomach
44	chr1:93297600-93299400	Active TSS	Ovary	ovary
45	chr1:93297600-93299600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:93297600-93299600	Active TSS	Aorta	Aorta
47	chr1:93297600-93299800	Active TSS	Psoas Muscle	Psoas
48	chr1:93297600-93301000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:93297600-93302800	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr1:93297800-93299000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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