Variant report

Variant	rs57517228
Chromosome Location	chr15:41712505-41712506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41711628..41713417-chr15:41713793..41716319,2	MCF-7	breast:
2	chr15:41708317..41710602-chr15:41711098..41714425,3	MCF-7	breast:
3	chr15:41706897..41710806-chr15:41711426..41714664,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137815	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs316608	0.88[EUR][1000 genomes]
rs57712847	1.00[EUR][1000 genomes]
rs60501235	0.84[AFR][1000 genomes]
rs61255487	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7166469	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176635	0.94[EUR][1000 genomes]
rs8023925	0.94[EUR][1000 genomes]
rs8031932	0.82[EUR][1000 genomes]
rs8033095	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv1039283	chr15:41620499-41745480	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
5	nsv933757	chr15:41641236-41773058	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
6	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv569232	chr15:41694377-41730246	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41710400-41712600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:41710400-41712600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:41710400-41712600	Weak transcription	Pancreas	Pancrea
4	chr15:41710400-41713000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr15:41710400-41713000	Weak transcription	Spleen	Spleen
6	chr15:41710400-41713400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr15:41710400-41715600	Weak transcription	Lung	lung
8	chr15:41710400-41724600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:41710400-41745200	Weak transcription	Esophagus	oesophagus
10	chr15:41710400-41750000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:41710600-41712600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:41710600-41713000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:41710600-41713200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr15:41710600-41713200	Enhancers	Liver	Liver
15	chr15:41710600-41714600	Weak transcription	Stomach Mucosa	stomach
16	chr15:41710600-41715000	Weak transcription	Ovary	ovary
17	chr15:41710600-41716200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:41710600-41717000	Weak transcription	Fetal Stomach	stomach
19	chr15:41710600-41721200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:41710600-41721200	Weak transcription	Right Atrium	heart
21	chr15:41710600-41723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:41710600-41723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:41710600-41729800	Weak transcription	Brain Substantia Nigra	brain
24	chr15:41710600-41731600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:41710600-41731600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:41710600-41731800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:41710600-41733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:41710600-41745200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:41710800-41712800	Enhancers	HUVEC	blood vessel
30	chr15:41710800-41716200	Weak transcription	Fetal Brain Female	brain
31	chr15:41710800-41716400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:41710800-41718800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:41710800-41718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:41710800-41718800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:41710800-41718800	Weak transcription	HMEC	breast
36	chr15:41710800-41718800	Weak transcription	NH-A	brain
37	chr15:41710800-41718800	Weak transcription	NHLF	lung
38	chr15:41710800-41720800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:41710800-41720800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:41710800-41721200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:41710800-41724200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:41710800-41724800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:41710800-41724800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:41710800-41726600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:41710800-41727800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:41710800-41729800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:41710800-41729800	Weak transcription	Psoas Muscle	Psoas
48	chr15:41710800-41730200	Weak transcription	Fetal Intestine Large	intestine
49	chr15:41710800-41730600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:41710800-41731600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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