Variant report

Variant	rs74158013
Chromosome Location	chr10:116263521-116263522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr10:116263135-116263626	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:116263250..116265111-chr10:116285269..116286971,2	MCF-7	breast:
2	chr10:116262150..116264376-chr10:116274849..116277700,2	MCF-7	breast:
3	chr10:116263421..116264995-chr10:116278964..116280973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229668	TF binding region
ENSG00000099204	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2483576	1.00[EUR][1000 genomes]
rs34118174	1.00[EUR][1000 genomes]
rs34542287	1.00[EUR][1000 genomes]
rs57307018	1.00[EUR][1000 genomes]
rs74158015	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7899950	1.00[EUR][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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
4	chr10:116225600-116278800	Weak transcription	HSMM	muscle
5	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
6	chr10:116249600-116264800	Weak transcription	Pancreas	Pancrea
7	chr10:116250200-116264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:116250200-116265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:116252000-116267200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:116252200-116264800	Weak transcription	Brain Substantia Nigra	brain
11	chr10:116252400-116263800	Weak transcription	Hela-S3	cervix
12	chr10:116252600-116264800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:116252600-116264800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:116252600-116264800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:116253200-116264600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr10:116253200-116264800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:116255400-116264200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:116255400-116264600	Weak transcription	Fetal Kidney	kidney
19	chr10:116256000-116264600	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:116256800-116263600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr10:116256800-116264600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:116256800-116264800	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:116258000-116271400	Enhancers	Stomach Mucosa	stomach
24	chr10:116259600-116272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:116259800-116264000	Weak transcription	HSMMtube	muscle
26	chr10:116259800-116264800	Weak transcription	Brain Anterior Caudate	brain
27	chr10:116259800-116267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:116259800-116267200	Weak transcription	Lung	lung
29	chr10:116259800-116276800	Weak transcription	Thymus	Thymus
30	chr10:116260000-116264400	Weak transcription	Adipose Nuclei	Adipose
31	chr10:116260000-116264800	Weak transcription	Liver	Liver
32	chr10:116260000-116267200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:116260000-116268800	Weak transcription	Gastric	stomach
34	chr10:116260000-116269800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:116260000-116272800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr10:116260200-116265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr10:116260200-116268800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:116260400-116264200	Weak transcription	Left Ventricle	heart
39	chr10:116260400-116264600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:116260400-116264800	Weak transcription	Right Atrium	heart
41	chr10:116260400-116267200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:116260400-116268600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr10:116260400-116272800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr10:116260600-116264000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:116260800-116264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:116260800-116264600	Weak transcription	NHEK	skin
47	chr10:116260800-116264800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr10:116260800-116269600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr10:116261000-116264200	Weak transcription	HMEC	breast
50	chr10:116261000-116264400	Weak transcription	Fetal Intestine Small	intestine

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