Variant report

Variant	rs34552619
Chromosome Location	chr1:193065115-193065116
allele	C/T
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:8)
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	chr1:193065094-193065155	MCF-7	breast:	n/a	n/a
2	STAT3	chr1:193065027-193065226	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193064175..193068629-chr1:193089733..193092705,4	MCF-7	breast:
2	chr1:193062664..193065253-chr1:193073846..193075558,2	MCF-7	breast:
3	chr1:193064913..193067951-chr1:193071515..193073810,3	MCF-7	breast:
4	chr1:193060374..193063058-chr1:193064176..193066653,2	MCF-7	breast:
5	chr1:193037363..193039683-chr1:193063046..193065690,3	K562	blood:
6	chr1:193059192..193063185-chr1:193064077..193068056,5	MCF-7	breast:
7	chr1:193057980..193059695-chr1:193063116..193065702,2	MCF-7	breast:
8	chr1:193054112..193056776-chr1:193063002..193065474,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272579	TF binding region
ENSG00000116747	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000023572	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34615282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55842934	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56199152	1.00[AMR][1000 genomes]
rs58479385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687899	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130911	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130913	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130914	0.85[AMR][1000 genomes]
rs74130916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130918	0.85[AMR][1000 genomes]
rs7522932	0.85[AMR][1000 genomes]
rs7553830	0.93[AFR][1000 genomes];1.00[AMR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr1:193047000-193066000	Weak transcription	Right Ventricle	heart
5	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
7	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
8	chr1:193048800-193070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
10	chr1:193051400-193066400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:193052200-193066600	Weak transcription	Gastric	stomach
12	chr1:193052200-193067200	Weak transcription	Pancreas	Pancrea
13	chr1:193052800-193066600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:193052800-193068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:193052800-193068600	Weak transcription	Fetal Kidney	kidney
16	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:193053000-193067200	Weak transcription	Lung	lung
18	chr1:193053000-193067400	Weak transcription	NHEK	skin
19	chr1:193053000-193068600	Weak transcription	Spleen	Spleen
20	chr1:193053000-193069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
23	chr1:193053200-193066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
25	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:193054000-193065600	Weak transcription	HepG2	liver
27	chr1:193054000-193068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:193054000-193068600	Weak transcription	Thymus	Thymus
29	chr1:193054200-193067200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:193054200-193072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:193054200-193072600	Weak transcription	Colonic Mucosa	Colon
32	chr1:193054200-193073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:193054200-193073000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:193054400-193066600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:193054400-193070400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:193054400-193072600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:193054400-193072600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:193054600-193072400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:193054800-193073000	Weak transcription	Fetal Thymus	thymus
40	chr1:193055600-193065400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:193055600-193065600	Weak transcription	GM12878-XiMat	blood
42	chr1:193055600-193071600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:193055800-193065600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:193056200-193073200	Weak transcription	Brain Germinal Matrix	brain
45	chr1:193057400-193068200	Weak transcription	Ovary	ovary
46	chr1:193057800-193070200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:193058200-193070000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:193058800-193070000	Strong transcription	Osteobl	bone
49	chr1:193059200-193070200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:193059200-193070200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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