Variant report

Variant	rs35221108
Chromosome Location	chr1:193075835-193075836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:193075544-193075873	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:193075731-193075903	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193027166..193030257-chr1:193073439..193079424,9	MCF-7	breast:
2	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
3	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
4	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
5	chr1:193074044..193075993-chr1:193105270..193107522,3	MCF-7	breast:

No data

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10489686	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10801170	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12118724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123970	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129832	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12132305	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12134846	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12136893	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2887640	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34961778	0.82[AMR][1000 genomes]
rs56022114	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6670264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738588	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738589	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738599	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544830	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193075000-193079600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193075000-193080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:193075000-193081000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:193075000-193081000	Weak transcription	Psoas Muscle	Psoas
5	chr1:193075000-193082600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
7	chr1:193075200-193078400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:193075200-193079400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:193075200-193079800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:193075200-193080200	Weak transcription	Osteobl	bone
11	chr1:193075200-193080600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:193075200-193080600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:193075200-193080600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:193075200-193080600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:193075200-193080600	Weak transcription	NHEK	skin
16	chr1:193075200-193080800	Weak transcription	Fetal Kidney	kidney
17	chr1:193075200-193084800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:193075400-193076200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:193075400-193076400	Weak transcription	HepG2	liver
20	chr1:193075400-193079200	Weak transcription	HSMM	muscle
21	chr1:193075400-193079400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:193075400-193079400	Weak transcription	HSMMtube	muscle
23	chr1:193075400-193079800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:193075400-193080000	Weak transcription	NHDF-Ad	bronchial
25	chr1:193075400-193080000	Weak transcription	NHLF	lung
26	chr1:193075400-193080200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:193075400-193080400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:193075400-193080600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:193075400-193080600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:193075400-193080600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:193075400-193080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:193075400-193080600	Weak transcription	Adipose Nuclei	Adipose
33	chr1:193075400-193080600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:193075400-193080800	Weak transcription	Brain Substantia Nigra	brain
35	chr1:193075400-193081000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:193075400-193082400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:193075400-193084000	Weak transcription	HUVEC	blood vessel
38	chr1:193075600-193076200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:193075600-193079200	Weak transcription	K562	blood
40	chr1:193075600-193080000	Weak transcription	A549	lung
41	chr1:193075600-193080000	Weak transcription	Hela-S3	cervix
42	chr1:193075600-193084600	Weak transcription	Fetal Heart	heart
43	chr1:193075800-193076000	Enhancers	Primary B cells from cord blood	blood
44	chr1:193075800-193079400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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