Variant report

Variant	rs9672591
Chromosome Location	chr15:40620803-40620804
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:40619456..40622052-chr15:40729021..40731269,2	K562	blood:
2	chr15:40618049..40622052-chr15:40729021..40731269,3	K562	blood:
3	chr15:40616336..40620318-chr15:40620739..40624439,7	MCF-7	breast:
4	chr15:40620284..40622510-chr15:40650949..40653083,2	K562	blood:
5	chr15:40619706..40623827-chr15:40624940..40628910,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHGR1-1	chr15:40619622-40621361	l_1150_chr15:40617140-40621361_brain

No data

Variant related genes	Relation type
ENSG00000259330	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11070254	1.00[EUR][1000 genomes]
rs11070255	1.00[EUR][1000 genomes]
rs12102172	1.00[EUR][1000 genomes]
rs12385956	1.00[EUR][1000 genomes]
rs13380113	1.00[EUR][1000 genomes]
rs13380241	1.00[EUR][1000 genomes]
rs14363	1.00[EUR][1000 genomes]
rs1494534	1.00[EUR][1000 genomes]
rs1801528	1.00[EUR][1000 genomes]
rs1869906	1.00[EUR][1000 genomes]
rs28390245	1.00[EUR][1000 genomes]
rs28417868	1.00[EUR][1000 genomes]
rs28485685	1.00[EUR][1000 genomes]
rs28501335	1.00[EUR][1000 genomes]
rs28526743	1.00[EUR][1000 genomes]
rs28561898	1.00[EUR][1000 genomes]
rs28565228	1.00[EUR][1000 genomes]
rs28606396	1.00[EUR][1000 genomes]
rs28637656	1.00[EUR][1000 genomes]
rs28637697	1.00[EUR][1000 genomes]
rs28657938	1.00[EUR][1000 genomes]
rs28668026	1.00[EUR][1000 genomes]
rs28673302	1.00[EUR][1000 genomes]
rs28744626	1.00[EUR][1000 genomes]
rs28750294	1.00[EUR][1000 genomes]
rs28792493	1.00[EUR][1000 genomes]
rs28844897	1.00[EUR][1000 genomes]
rs28869227	1.00[EUR][1000 genomes]
rs35611758	1.00[EUR][1000 genomes]
rs55945670	0.84[AFR][1000 genomes]
rs55984256	1.00[EUR][1000 genomes]
rs56010221	1.00[EUR][1000 genomes]
rs56908156	1.00[EUR][1000 genomes]
rs57029027	1.00[EUR][1000 genomes]
rs57134155	1.00[EUR][1000 genomes]
rs58042425	1.00[EUR][1000 genomes]
rs58216655	1.00[EUR][1000 genomes]
rs58584688	1.00[EUR][1000 genomes]
rs58870954	1.00[EUR][1000 genomes]
rs58903833	1.00[EUR][1000 genomes]
rs60743501	1.00[EUR][1000 genomes]
rs61579851	1.00[EUR][1000 genomes]
rs61678895	1.00[EUR][1000 genomes]
rs6492943	1.00[EUR][1000 genomes]
rs6492946	1.00[EUR][1000 genomes]
rs6492948	1.00[EUR][1000 genomes]
rs6492949	1.00[EUR][1000 genomes]
rs7164094	1.00[EUR][1000 genomes]
rs7164281	1.00[EUR][1000 genomes]
rs7165233	1.00[EUR][1000 genomes]
rs7168197	1.00[EUR][1000 genomes]
rs7168394	1.00[EUR][1000 genomes]
rs7168416	1.00[EUR][1000 genomes]
rs7173079	1.00[EUR][1000 genomes]
rs7173239	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7175153	1.00[EUR][1000 genomes]
rs7178873	1.00[EUR][1000 genomes]
rs7182052	1.00[EUR][1000 genomes]
rs73377835	1.00[EUR][1000 genomes]
rs73383123	1.00[EUR][1000 genomes]
rs73383129	1.00[EUR][1000 genomes]
rs73385108	1.00[EUR][1000 genomes]
rs73385110	1.00[EUR][1000 genomes]
rs73385112	1.00[EUR][1000 genomes]
rs73385114	1.00[EUR][1000 genomes]
rs73389487	1.00[EUR][1000 genomes]
rs73389489	1.00[EUR][1000 genomes]
rs73389492	1.00[EUR][1000 genomes]
rs73389507	1.00[EUR][1000 genomes]
rs73389520	1.00[EUR][1000 genomes]
rs73389531	1.00[EUR][1000 genomes]
rs73389536	1.00[EUR][1000 genomes]
rs73389540	1.00[EUR][1000 genomes]
rs73390146	1.00[EUR][1000 genomes]
rs73390155	1.00[EUR][1000 genomes]
rs73390162	1.00[EUR][1000 genomes]
rs73390167	1.00[EUR][1000 genomes]
rs73390168	1.00[EUR][1000 genomes]
rs73390187	1.00[EUR][1000 genomes]
rs73392641	1.00[EUR][1000 genomes]
rs74011172	1.00[EUR][1000 genomes]
rs74011173	1.00[EUR][1000 genomes]
rs74011174	1.00[EUR][1000 genomes]
rs8023956	1.00[EUR][1000 genomes]
rs8026988	1.00[EUR][1000 genomes]
rs8033915	1.00[EUR][1000 genomes]
rs8034169	1.00[EUR][1000 genomes]
rs8039298	1.00[EUR][1000 genomes]
rs8364	1.00[EUR][1000 genomes]
rs9672893	1.00[EUR][1000 genomes]
rs9806126	1.00[EUR][1000 genomes]
rs9806144	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40617000-40622800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:40617200-40630200	Weak transcription	A549	lung
3	chr15:40617400-40621800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:40617400-40623000	Enhancers	Fetal Brain Male	brain
5	chr15:40617400-40623800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:40617400-40624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:40617400-40626000	Weak transcription	Liver	Liver
8	chr15:40617400-40626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:40617400-40626400	Weak transcription	Pancreas	Pancrea
10	chr15:40617400-40627000	Weak transcription	Gastric	stomach
11	chr15:40617600-40622400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:40617600-40623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr15:40617800-40623000	Enhancers	HMEC	breast
14	chr15:40617800-40625000	Weak transcription	Psoas Muscle	Psoas
15	chr15:40618000-40622600	Weak transcription	NHLF	lung
16	chr15:40618000-40624200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:40618000-40624400	Enhancers	NHDF-Ad	bronchial
18	chr15:40618000-40625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:40618000-40625800	Weak transcription	Dnd41	blood
20	chr15:40618200-40625800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:40618200-40626000	Weak transcription	Stomach Mucosa	stomach
22	chr15:40618400-40621200	Enhancers	Right Ventricle	heart
23	chr15:40618400-40622200	Weak transcription	Brain Substantia Nigra	brain
24	chr15:40618400-40622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:40618400-40622600	Genic enhancers	Osteobl	bone
26	chr15:40618400-40623000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:40618400-40624200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:40618400-40624400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:40618400-40624600	Weak transcription	Primary B cells from cord blood	blood
30	chr15:40618400-40625800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:40618400-40625800	Weak transcription	Esophagus	oesophagus
32	chr15:40618400-40626800	Weak transcription	Small Intestine	intestine
33	chr15:40618400-40628200	Weak transcription	Brain Germinal Matrix	brain
34	chr15:40618600-40621000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
35	chr15:40618600-40621200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr15:40618600-40623400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:40618800-40621000	Genic enhancers	Monocytes-CD14+_RO01746	blood
38	chr15:40618800-40621400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr15:40618800-40621400	Genic enhancers	NHEK	skin
40	chr15:40618800-40622600	Weak transcription	Colonic Mucosa	Colon
41	chr15:40618800-40623600	Enhancers	Brain Hippocampus Middle	brain
42	chr15:40619000-40621000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr15:40619000-40621200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:40619000-40621400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr15:40619000-40621600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr15:40619200-40621400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:40619200-40621800	Weak transcription	Lung	lung
48	chr15:40619200-40623200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:40619400-40621000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr15:40619400-40621400	Enhancers	HUES6 Cell Line	embryonic stem cell

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