Variant report

Variant	rs7180793
Chromosome Location	chr15:40234117-40234118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40225691..40227971-chr15:40229270..40234553,6	MCF-7	breast:
2	chr15:40224692..40226546-chr15:40233475..40236081,2	K562	blood:
3	chr15:40232628..40236557-chr15:40238241..40241740,4	K562	blood:
4	chr15:40229592..40232306-chr15:40232969..40235787,3	K562	blood:
5	chr15:40233405..40236189-chr15:40239462..40243129,4	K562	blood:
6	chr15:40229592..40232306-chr15:40232969..40236218,4	K562	blood:

Variant related genes	Relation type
ENSG00000238564	Chromatin interaction
ENSG00000128829	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1020028	0.82[EUR][1000 genomes]
rs12592148	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970024	0.89[EUR][1000 genomes]
rs16970035	0.82[EUR][1000 genomes]
rs3816902	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58498873	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59688263	0.82[EUR][1000 genomes]
rs920142	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:40227200-40236000	Weak transcription	Brain Angular Gyrus	brain
3	chr15:40227200-40247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:40227200-40248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
6	chr15:40227400-40235000	Weak transcription	Fetal Brain Female	brain
7	chr15:40227400-40236000	Weak transcription	Brain Germinal Matrix	brain
8	chr15:40227400-40236800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:40227400-40237600	Weak transcription	Fetal Brain Male	brain
10	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:40227600-40235800	Weak transcription	Small Intestine	intestine
12	chr15:40227800-40235000	Weak transcription	Right Ventricle	heart
13	chr15:40227800-40237600	Weak transcription	Gastric	stomach
14	chr15:40227800-40247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:40228000-40235000	Weak transcription	Fetal Intestine Small	intestine
17	chr15:40228000-40238400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:40228200-40235000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:40228600-40239800	Weak transcription	Stomach Mucosa	stomach
21	chr15:40228600-40246000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:40229400-40235400	Genic enhancers	Muscle Satellite Cultured Cells	--
23	chr15:40230000-40234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:40230000-40235200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:40230000-40235200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr15:40230200-40255600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:40230400-40234400	Strong transcription	HMEC	breast
29	chr15:40230400-40240000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:40230600-40235200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:40230600-40237400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:40230600-40252400	Weak transcription	Right Atrium	heart
34	chr15:40230800-40239600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:40230800-40240000	Strong transcription	Fetal Stomach	stomach
36	chr15:40231000-40237600	Weak transcription	Spleen	Spleen
37	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:40231400-40235200	Genic enhancers	Osteobl	bone
39	chr15:40231400-40235600	Weak transcription	Ovary	ovary
40	chr15:40231400-40243400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:40231600-40235400	Genic enhancers	NHLF	lung
42	chr15:40231800-40234600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:40231800-40234800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:40231800-40238800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr15:40231800-40239000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:40231800-40240200	Strong transcription	Fetal Muscle Leg	muscle
47	chr15:40231800-40243400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr15:40231800-40252600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:40232000-40234200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:40232000-40234200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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