Variant report

Variant	rs57175250
Chromosome Location	chr11:47742240-47742241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47739729..47743236-chr11:47744757..47747052,3	MCF-7	breast:
2	chr11:47661534..47663358-chr11:47740296..47742508,2	K562	blood:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs56904157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56962998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57086723	1.00[EUR][1000 genomes]
rs58556689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055358	1.00[AMR][1000 genomes]
rs60354180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60582355	1.00[EUR][1000 genomes]
rs61144745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61638533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73453068	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456963	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456971	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73461723	1.00[EUR][1000 genomes]
rs73461734	1.00[EUR][1000 genomes]
rs73461744	1.00[EUR][1000 genomes]
rs73461779	1.00[EUR][1000 genomes]
rs73461796	1.00[EUR][1000 genomes]
rs73461797	1.00[EUR][1000 genomes]
rs73463785	1.00[EUR][1000 genomes]
rs73465695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73465700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467344	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 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	chr11:47736800-47752400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:47737200-47742600	Weak transcription	Gastric	stomach
4	chr11:47737200-47743000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:47737200-47743000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:47737200-47743000	Weak transcription	Fetal Heart	heart
7	chr11:47737200-47744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:47737200-47745200	Weak transcription	Aorta	Aorta
9	chr11:47737200-47745200	Weak transcription	Psoas Muscle	Psoas
10	chr11:47737200-47745600	Weak transcription	Stomach Mucosa	stomach
11	chr11:47737200-47747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:47737200-47748000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:47737200-47752200	Weak transcription	Right Atrium	heart
14	chr11:47737200-47758200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:47737200-47779800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:47737600-47745600	Strong transcription	Osteobl	bone
17	chr11:47737600-47745800	Strong transcription	Hela-S3	cervix
18	chr11:47737600-47779200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:47737800-47743800	Strong transcription	Fetal Intestine Large	intestine
20	chr11:47737800-47744600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:47737800-47744600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:47737800-47745200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:47737800-47747000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:47737800-47757400	Strong transcription	Brain Germinal Matrix	brain
25	chr11:47737800-47759200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:47737800-47767400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:47737800-47776400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:47737800-47776600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:47737800-47776600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:47737800-47777200	Strong transcription	NH-A	brain
31	chr11:47737800-47782800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
40	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
41	chr11:47738000-47742400	Strong transcription	HSMMtube	muscle
42	chr11:47738000-47742800	Strong transcription	Liver	Liver
43	chr11:47738000-47744800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:47738000-47757200	Strong transcription	HSMM	muscle
45	chr11:47738000-47763800	Strong transcription	NHDF-Ad	bronchial
46	chr11:47738000-47776200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:47738000-47776200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:47738000-47776400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:47738000-47776600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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