Variant report

Variant	rs35070966
Chromosome Location	chr1:193075413-193075414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:193072871-193075496	IMR90	lung:	n/a	n/a
2	ZNF384	chr1:193074182-193075626	K562	blood:	n/a	n/a
3	POLR2A	chr1:193072085-193075457	IMR90	lung:	n/a	n/a
4	POLR2A	chr1:193075166-193075459	K562	blood:	n/a	n/a
5	TCF12	chr1:193073514-193075534	A549	lung:	n/a	n/a
6	FOXA2	chr1:193075047-193075507	A549	lung:	n/a	n/a
7	MXI1	chr1:193073257-193075426	SK-N-SH	brain:	n/a	n/a
8	MAZ	chr1:193073978-193075528	IMR90	lung:	n/a	n/a
9	POLR2A	chr1:193073533-193075465	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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

No data

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

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34084081	1.00[AMR][1000 genomes]
rs34147192	1.00[EUR][1000 genomes]
rs34353394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35057393	1.00[EUR][1000 genomes]
rs35241972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35358794	1.00[EUR][1000 genomes]
rs35995477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41306225	1.00[EUR][1000 genomes]
rs41310923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56300484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193074800-193075600	Weak transcription	Spleen	Spleen
2	chr1:193075000-193079600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:193075000-193080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:193075000-193081000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:193075000-193081000	Weak transcription	Psoas Muscle	Psoas
6	chr1:193075000-193082600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
8	chr1:193075200-193075600	Enhancers	Fetal Heart	heart
9	chr1:193075200-193075800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:193075200-193078400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:193075200-193079400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:193075200-193079800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:193075200-193080200	Weak transcription	Osteobl	bone
14	chr1:193075200-193080600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:193075200-193080600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:193075200-193080600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:193075200-193080600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:193075200-193080600	Weak transcription	NHEK	skin
19	chr1:193075200-193080800	Weak transcription	Fetal Kidney	kidney
20	chr1:193075200-193084800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:193075400-193075600	Enhancers	Brain Angular Gyrus	brain
22	chr1:193075400-193075600	Enhancers	A549	lung
23	chr1:193075400-193075600	Enhancers	Hela-S3	cervix
24	chr1:193075400-193075600	Active TSS	K562	blood
25	chr1:193075400-193075800	Enhancers	Right Ventricle	heart
26	chr1:193075400-193076200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:193075400-193076400	Weak transcription	HepG2	liver
28	chr1:193075400-193079200	Weak transcription	HSMM	muscle
29	chr1:193075400-193079400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:193075400-193079400	Weak transcription	HSMMtube	muscle
31	chr1:193075400-193079800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:193075400-193080000	Weak transcription	NHDF-Ad	bronchial
33	chr1:193075400-193080000	Weak transcription	NHLF	lung
34	chr1:193075400-193080200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:193075400-193080400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:193075400-193080600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:193075400-193080600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:193075400-193080600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:193075400-193080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:193075400-193080600	Weak transcription	Adipose Nuclei	Adipose
41	chr1:193075400-193080600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:193075400-193080800	Weak transcription	Brain Substantia Nigra	brain
43	chr1:193075400-193081000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:193075400-193082400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:193075400-193084000	Weak transcription	HUVEC	blood vessel

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