Variant report

Variant	rs57094441
Chromosome Location	chr15:40690915-40690916
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40674023..40677701-chr15:40688521..40691902,3	MCF-7	breast:
2	chr15:40649234..40652191-chr15:40689740..40691491,2	K562	blood:
3	chr15:40674079..40683588-chr15:40684131..40692224,17	K562	blood:
4	chr15:40671643..40673805-chr15:40689651..40692222,2	K562	blood:
5	chr15:40670502..40673143-chr15:40690722..40692887,2	K562	blood:
6	chr15:40685564..40689200-chr15:40689211..40693750,5	K562	blood:

Variant related genes	Relation type
ENSG00000128944	Chromatin interaction
ENSG00000140323	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55904487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59636068	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60397708	1.00[AMR][1000 genomes]
rs7164303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011152	1.00[AMR][1000 genomes]
rs74011153	1.00[AMR][1000 genomes]
rs74013054	1.00[AMR][1000 genomes]
rs74013056	1.00[AMR][1000 genomes]
rs8040294	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8041445	1.00[AMR][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	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40676000-40697400	Weak transcription	Small Intestine	intestine
2	chr15:40676200-40697200	Weak transcription	Stomach Mucosa	stomach
3	chr15:40679400-40697400	Weak transcription	Brain Substantia Nigra	brain
4	chr15:40679800-40697200	Weak transcription	Ovary	ovary
5	chr15:40679800-40697600	Weak transcription	Esophagus	oesophagus
6	chr15:40685000-40697000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:40685000-40697200	Weak transcription	Spleen	Spleen
8	chr15:40685800-40691200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:40686000-40697000	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:40686000-40697200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:40686200-40696800	Weak transcription	HepG2	liver
12	chr15:40686200-40697000	Weak transcription	Adipose Nuclei	Adipose
13	chr15:40686200-40697000	Weak transcription	Liver	Liver
14	chr15:40686200-40697000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:40686200-40697000	Weak transcription	Fetal Brain Male	brain
16	chr15:40686200-40697000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:40686200-40697200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:40686200-40697200	Weak transcription	Brain Angular Gyrus	brain
19	chr15:40686200-40697200	Weak transcription	Brain Anterior Caudate	brain
20	chr15:40686200-40697200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:40686200-40697200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:40686200-40697200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:40686200-40697400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:40686200-40697400	Weak transcription	Fetal Intestine Large	intestine
25	chr15:40686200-40697400	Weak transcription	Fetal Kidney	kidney
26	chr15:40686200-40697400	Weak transcription	A549	lung
27	chr15:40686400-40692600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr15:40686400-40696800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:40686400-40697000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:40686400-40697000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:40686400-40697000	Weak transcription	Brain Germinal Matrix	brain
32	chr15:40686400-40697000	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:40686400-40697000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:40686400-40697000	Weak transcription	Fetal Brain Female	brain
35	chr15:40686400-40697000	Weak transcription	Hela-S3	cervix
36	chr15:40686400-40697200	Weak transcription	NH-A	brain
37	chr15:40686400-40697400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:40686400-40697400	Weak transcription	HUVEC	blood vessel
39	chr15:40686400-40697600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:40686600-40696600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:40686600-40696800	Weak transcription	NHDF-Ad	bronchial
42	chr15:40686600-40697000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:40686600-40697400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:40686600-40697400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr15:40686600-40697400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:40686600-40697400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:40686800-40696000	Weak transcription	K562	blood
48	chr15:40686800-40697200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:40686800-40697200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:40686800-40697400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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