Variant report

Variant	rs74130912
Chromosome Location	chr1:193022481-193022482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193020432..193024562-chr1:193089724..193092274,3	MCF-7	breast:
2	chr1:192993820..193002591-chr1:193021038..193030016,12	K562	blood:
3	chr1:193013109..193015911-chr1:193020850..193022567,3	MCF-7	breast:
4	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
5	chr1:193021502..193024207-chr1:193053848..193055702,2	K562	blood:
6	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
7	chr1:193020543..193025995-chr1:193071857..193075742,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000134371	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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34615282	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55842934	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56199152	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58479385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130911	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130914	0.85[AMR][1000 genomes]
rs74130916	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130917	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130918	0.85[AMR][1000 genomes]
rs7522932	0.85[AMR][1000 genomes]
rs7553830	1.00[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:192983200-193023600	Weak transcription	Psoas Muscle	Psoas
4	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
5	chr1:192984200-193026600	Weak transcription	NHLF	lung
6	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
7	chr1:192984800-193025800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
9	chr1:192998800-193026200	Weak transcription	NHDF-Ad	bronchial
10	chr1:193006400-193023800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:193011000-193027800	Weak transcription	Small Intestine	intestine
12	chr1:193011400-193026400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:193011400-193027000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:193011600-193027000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:193012000-193026400	Weak transcription	Fetal Heart	heart
16	chr1:193012000-193027600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:193012200-193026800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:193012400-193027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:193012600-193026600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:193012600-193027600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:193012800-193023600	Weak transcription	Right Ventricle	heart
22	chr1:193013200-193026800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:193013200-193027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:193013600-193026400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:193013800-193026600	Weak transcription	Fetal Brain Female	brain
26	chr1:193014800-193027200	Weak transcription	Brain Germinal Matrix	brain
27	chr1:193015400-193027600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:193016000-193027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:193018000-193026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:193018000-193026600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:193018200-193023400	Weak transcription	Pancreas	Pancrea
32	chr1:193018200-193023600	Weak transcription	A549	lung
33	chr1:193018600-193023600	Weak transcription	Gastric	stomach
34	chr1:193018600-193023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:193018600-193027000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:193018600-193027000	Weak transcription	Primary B cells from cord blood	blood
37	chr1:193018600-193027000	Weak transcription	Lung	lung
38	chr1:193018600-193027000	Weak transcription	Spleen	Spleen
39	chr1:193018600-193027200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:193019000-193023400	Weak transcription	GM12878-XiMat	blood
41	chr1:193019000-193023400	Weak transcription	HMEC	breast
42	chr1:193019000-193026200	Weak transcription	HSMMtube	muscle
43	chr1:193019000-193026400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:193019000-193026400	Weak transcription	Fetal Lung	lung
45	chr1:193019000-193026400	Weak transcription	NH-A	brain
46	chr1:193019000-193027200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:193019000-193027200	Weak transcription	Colonic Mucosa	Colon
48	chr1:193019000-193027400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:193019000-193027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:193019400-193026600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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