Variant report

Variant	rs576645983
Chromosome Location	chr1:193075234-193075235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:193073210-193075235	MCF-7	breast:	n/a	n/a
2	GATA3	chr1:193074315-193075239	MCF-7	breast:	n/a	chr1:193074749-193074757
3	FOXA2	chr1:193075095-193075353	HepG2	liver:	n/a	n/a
4	JUND	chr1:193072918-193075266	K562	blood:	n/a	chr1:193074257-193074265 chr1:193074257-193074264 chr1:193073875-193073886 chr1:193074257-193074265 chr1:193074255-193074266
5	SP1	chr1:193073784-193075297	A549	lung:	n/a	chr1:193074307-193074314
6	CHD1	chr1:193072871-193075496	IMR90	lung:	n/a	n/a
7	ZNF384	chr1:193074182-193075626	K562	blood:	n/a	n/a
8	CEBPB	chr1:193074839-193075260	A549	lung:	n/a	n/a
9	MXI1	chr1:193072889-193075247	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:193072085-193075457	IMR90	lung:	n/a	n/a
11	MYC	chr1:193073234-193075374	K562	blood:	n/a	n/a
12	POLR2A	chr1:193073247-193075289	GM12891	blood:	n/a	n/a
13	TBL1XR1	chr1:193072815-193075270	K562	blood:	n/a	n/a
14	USF2	chr1:193074715-193075346	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:193073630-193075317	K562	blood:	n/a	n/a
16	MAZ	chr1:193073061-193075338	K562	blood:	n/a	n/a
17	POLR2A	chr1:193075166-193075459	K562	blood:	n/a	n/a
18	IRF1	chr1:193073718-193075389	K562	blood:	n/a	chr1:193073928-193073937 chr1:193074256-193074265 chr1:193074257-193074266
19	TCF12	chr1:193073514-193075534	A549	lung:	n/a	n/a
20	RCOR1	chr1:193072734-193075344	K562	blood:	n/a	n/a
21	FOXA2	chr1:193075047-193075507	A549	lung:	n/a	n/a
22	EP300	chr1:193074700-193075275	GM12878	blood:	n/a	n/a
23	MXI1	chr1:193073257-193075426	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr1:193073041-193075253	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr1:193073778-193075255	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:193073515-193075356	K562	blood:	n/a	n/a
27	MAZ	chr1:193073978-193075528	IMR90	lung:	n/a	n/a
28	POLR2A	chr1:193073201-193075332	MCF10A-Er-Src	breast:	n/a	n/a
29	SP1	chr1:193073994-193075361	A549	lung:	n/a	chr1:193074307-193074314
30	POLR2A	chr1:193073533-193075465	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:193075191-193075241	MCF10A-Er-Src	breast:	n/a
2	chr1:193075191-193075241	SK-N-SH	brain:	n/a
3	chr1:193075191-193075241	HAEpiC	amniotic membrane:	n/a
4	chr1:193075191-193075241	IMR90	lung:	fetal
5	chr1:193075191-193075241	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:193075191-193075241	NH-A	brain:	n/a
7	chr1:193075191-193075241	SK-N-MC	brain:	n/a
8	chr1:193075191-193075241	Caco-2	colon:	n/a
9	chr1:193075191-193075241	HCF	heart:	n/a
10	chr1:193075191-193075241	PFSK-1	brain:	n/a
11	chr1:193075191-193075241	GM12892	blood:	n/a
12	chr1:193075191-193075241	HUVEC	blood vessel:	n/a
13	chr1:193075191-193075241	H1-hESC	embryonic stem cell:	embryo
14	chr1:193075191-193075241	HCT-116	colon:	n/a
15	chr1:193075191-193075241	GM12891	blood:	n/a
16	chr1:193075191-193075241	Hela-S3	cervix:	n/a
17	chr1:193075191-193075241	HL-60	blood:	n/a
18	chr1:193075191-193075241	ovcar-3	ovarian:	n/a
19	chr1:193075191-193075241	LNCaP	prostate:	n/a
20	chr1:193075191-193075241	BJ	skin:	n/a
21	chr1:193075191-193075241	BE2_C	brain:	n/a
22	chr1:193075191-193075241	AG09319	gingival:	n/a
23	chr1:193075191-193075241	HEK293	kidney:	embryo
24	chr1:193075191-193075241	SAEC	small airway:	n/a
25	chr1:193075191-193075241	GM06990	blood:	n/a
26	chr1:193075191-193075241	GM12878	blood:	n/a
27	chr1:193075191-193075241	K562	blood:	n/a
28	chr1:193075191-193075241	Hepatocyte	liver:	n/a
29	chr1:193075191-193075241	AG09309	skin:	n/a
30	chr1:193075191-193075241	HNPCEpiC	eye:	n/a
31	chr1:193075191-193075241	SKMC	muscle:	n/a
32	chr1:193075191-193075241	MCF-7	breast:	n/a
33	chr1:193075191-193075241	HIPEpiC	eye:	n/a
34	chr1:193075191-193075241	ProgFib	skin:	n/a
35	chr1:193075191-193075241	AG04450	lung:	fetal
36	chr1:193075191-193075241	HEEpiC	esophagus:	n/a
37	chr1:193075191-193075241	CMK	blood:	n/a
38	chr1:193075191-193075241	PrEC	prostate:	n/a
39	chr1:193075191-193075241	HCPEpiC	choroid plexus:	n/a
40	chr1:193075191-193075241	Jurkat	blood:	n/a
41	chr1:193075191-193075241	HepG2	liver:	n/a
42	chr1:193075191-193075241	U87	brain:	n/a
43	chr1:193075191-193075241	HRPEpiC	eye:	n/a
44	chr1:193075191-193075241	RPTEC	kidney:	n/a
45	chr1:193075191-193075241	HCM	heart:	n/a
46	chr1:193075191-193075241	HRE	kidney:	n/a
47	chr1:193075191-193075241	GM19239	blood:	n/a
48	chr1:193075191-193075241	NHBE	bronchial:	n/a
49	chr1:193075191-193075241	AG04449	skin:	fetal
50	chr1:193075191-193075241	A549	lung:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193026932..193030661-chr1:193071909..193075798,10	K562	blood:
2	chr1:193074126..193075410-chr1:193090821..193091752,7	MCF-7	breast:
3	chr1:193027166..193030257-chr1:193073439..193079424,9	MCF-7	breast:
4	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
7	chr1:193027586..193031673-chr1:193072686..193075563,11	MCF-7	breast:
8	chr1:193074044..193075993-chr1:193105270..193107522,3	MCF-7	breast:
9	chr1:193060114..193062197-chr1:193073397..193075467,2	MCF-7	breast:
10	chr1:193073518..193075825-chr16:84536562..84538522,2	MCF-7	breast:

No data

Variant related genes	Relation type
GLRX2	TF binding region
GLRX2	CpG island
ENSG00000134371	Chromatin interaction
ENSG00000221680	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000140950	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3336724	chr1:193074336-193075716	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193073000-193075400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:193073000-193075400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:193073200-193075400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:193073200-193075400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:193073200-193075400	Active TSS	Brain Germinal Matrix	brain
6	chr1:193073400-193075400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:193073600-193075400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:193073600-193075400	Active TSS	Brain Hippocampus Middle	brain
9	chr1:193073800-193075400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:193073800-193075400	Active TSS	Fetal Brain Male	brain
11	chr1:193074000-193075400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr1:193074600-193075400	Flanking Active TSS	Dnd41	blood
13	chr1:193074800-193075400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:193074800-193075400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:193074800-193075400	Flanking Active TSS	Hela-S3	cervix
16	chr1:193074800-193075400	Flanking Active TSS	HepG2	liver
17	chr1:193074800-193075400	Flanking Active TSS	K562	blood
18	chr1:193074800-193075600	Weak transcription	Spleen	Spleen
19	chr1:193075000-193075400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:193075000-193075400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:193075000-193075400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:193075000-193075400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:193075000-193075400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:193075000-193075400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:193075000-193075400	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr1:193075000-193075400	Weak transcription	Esophagus	oesophagus
27	chr1:193075000-193075400	Flanking Active TSS	A549	lung
28	chr1:193075000-193075400	Enhancers	NHDF-Ad	bronchial
29	chr1:193075000-193075400	Enhancers	NHLF	lung
30	chr1:193075000-193079600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:193075000-193080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:193075000-193081000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:193075000-193081000	Weak transcription	Psoas Muscle	Psoas
34	chr1:193075000-193082600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
36	chr1:193075200-193075400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:193075200-193075400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:193075200-193075400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:193075200-193075400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:193075200-193075400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:193075200-193075400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:193075200-193075400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:193075200-193075400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:193075200-193075400	Enhancers	Adipose Nuclei	Adipose
45	chr1:193075200-193075400	Enhancers	Brain Anterior Caudate	brain
46	chr1:193075200-193075400	Enhancers	Brain Substantia Nigra	brain
47	chr1:193075200-193075400	Enhancers	Fetal Intestine Large	intestine
48	chr1:193075200-193075400	Weak transcription	Right Ventricle	heart
49	chr1:193075200-193075400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr1:193075200-193075400	Enhancers	Skeletal Muscle Female	skeletal muscle

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