Variant report

Variant	rs74130913
Chromosome Location	chr1:193026012-193026013
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr1:193025980-193026052	K562	blood:	n/a	n/a
2	POLR2A	chr1:193025956-193026372	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:193020780-193029490	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:
2	chr1:192993820..193002591-chr1:193021038..193030016,12	K562	blood:
3	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
4	chr1:186341227..186346056-chr1:193025925..193030298,4	K562	blood:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:

No data

Variant related genes	Relation type
TROVE2	TF binding region
ENSG00000023572	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000047410	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000157181	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34552619	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34615282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55842934	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56199152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58479385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671794	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130911	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130912	0.93[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: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	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
3	chr1:192984200-193026600	Weak transcription	NHLF	lung
4	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
5	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
6	chr1:192998800-193026200	Weak transcription	NHDF-Ad	bronchial
7	chr1:193011000-193027800	Weak transcription	Small Intestine	intestine
8	chr1:193011400-193026400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:193011400-193027000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:193011600-193027000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:193012000-193026400	Weak transcription	Fetal Heart	heart
12	chr1:193012000-193027600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:193012200-193026800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:193012400-193027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:193012600-193026600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:193012600-193027600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:193013200-193026800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:193013200-193027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:193013600-193026400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:193013800-193026600	Weak transcription	Fetal Brain Female	brain
21	chr1:193014800-193027200	Weak transcription	Brain Germinal Matrix	brain
22	chr1:193015400-193027600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:193016000-193027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:193018000-193026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:193018000-193026600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:193018600-193027000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:193018600-193027000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:193018600-193027000	Weak transcription	Lung	lung
29	chr1:193018600-193027000	Weak transcription	Spleen	Spleen
30	chr1:193018600-193027200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:193019000-193026200	Weak transcription	HSMMtube	muscle
32	chr1:193019000-193026400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:193019000-193026400	Weak transcription	Fetal Lung	lung
34	chr1:193019000-193026400	Weak transcription	NH-A	brain
35	chr1:193019000-193027200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:193019000-193027200	Weak transcription	Colonic Mucosa	Colon
37	chr1:193019000-193027400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:193019000-193027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:193019400-193026600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:193019800-193026600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:193019800-193027400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:193020000-193026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:193020000-193027000	Weak transcription	Fetal Intestine Small	intestine
44	chr1:193020000-193027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:193020000-193027600	Weak transcription	Esophagus	oesophagus
46	chr1:193020200-193026200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:193020200-193026800	Weak transcription	Adipose Nuclei	Adipose
48	chr1:193020200-193026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:193020200-193026800	Weak transcription	HSMM	muscle
50	chr1:193020200-193027600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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