Variant report

Variant	rs8040419
Chromosome Location	chr15:40638477-40638478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40636488..40640670-chr15:40658670..40661972,5	MCF-7	breast:
2	chr15:40636615..40640420-chr15:40645186..40649108,5	K562	blood:
3	chr15:40626473..40628629-chr15:40636681..40638741,2	K562	blood:
4	chr15:40636033..40638861-chr15:40659207..40662844,4	K562	blood:

Variant related genes	Relation type
ENSG00000259368	Chromatin interaction
ENSG00000140323	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1048163	1.00[JPT][hapmap]
rs11636097	1.00[JPT][hapmap]
rs11636147	1.00[JPT][hapmap]
rs11638662	1.00[JPT][hapmap]
rs16970474	1.00[CEU][hapmap]
rs17670745	1.00[YRI][hapmap]
rs17733008	1.00[JPT][hapmap]
rs2018127	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2289327	1.00[JPT][hapmap]
rs900054	1.00[JPT][hapmap]

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	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40625800-40642800	Enhancers	Fetal Intestine Large	intestine
2	chr15:40633000-40638800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40633000-40640600	Enhancers	Fetal Intestine Small	intestine
4	chr15:40633200-40639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:40633200-40641600	Enhancers	Esophagus	oesophagus
6	chr15:40633600-40642800	Enhancers	Stomach Mucosa	stomach
7	chr15:40633600-40644800	Weak transcription	Brain Germinal Matrix	brain
8	chr15:40633600-40645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:40633800-40638600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:40633800-40638600	Weak transcription	Hela-S3	cervix
11	chr15:40634000-40638600	Weak transcription	HSMM	muscle
12	chr15:40634800-40641000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:40635200-40641400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr15:40635800-40641000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:40636000-40638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:40636400-40650000	Weak transcription	Right Atrium	heart
17	chr15:40636800-40639800	Enhancers	Gastric	stomach
18	chr15:40636800-40646200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:40637000-40639000	Enhancers	Placenta	Placenta
20	chr15:40637000-40640000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr15:40637000-40640000	Enhancers	Small Intestine	intestine
22	chr15:40637200-40638800	Weak transcription	Brain Anterior Caudate	brain
23	chr15:40637200-40638800	Weak transcription	Brain Substantia Nigra	brain
24	chr15:40637200-40640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:40637200-40642600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:40637200-40642600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:40637200-40642600	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:40637200-40644800	Weak transcription	Fetal Brain Female	brain
29	chr15:40637200-40645600	Weak transcription	Brain Angular Gyrus	brain
30	chr15:40637400-40638600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:40637400-40638600	Weak transcription	A549	lung
32	chr15:40637400-40639000	Weak transcription	NHEK	skin
33	chr15:40637400-40640200	Weak transcription	Right Ventricle	heart
34	chr15:40637400-40644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:40637400-40645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:40637400-40645800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:40637400-40649600	Weak transcription	Spleen	Spleen
38	chr15:40637600-40639000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:40637600-40639000	Weak transcription	Fetal Heart	heart
40	chr15:40637600-40640400	Weak transcription	Fetal Brain Male	brain
41	chr15:40637600-40641200	Enhancers	HepG2	liver
42	chr15:40638000-40639000	Active TSS	Rectal Smooth Muscle	rectum
43	chr15:40638000-40640000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:40638000-40640800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:40638200-40639200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr15:40638400-40638800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:40638400-40638800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:40638400-40638800	Enhancers	Colonic Mucosa	Colon
49	chr15:40638400-40638800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:40638400-40639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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