Variant report

Variant	rs45561038
Chromosome Location	chr15:43771845-43771846
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43756724..43759640-chr15:43771522..43773401,2	MCF-7	breast:
2	15:43770785-43782117..15:43792489-43802874	Hela-S3	cervix:
3	chr15:43770091..43773050-chr15:43800972..43802539,2	K562	blood:
4	15:43770785-43782117..15:44080886-44089111	Hela-S3	cervix:
5	chr15:43768963..43773050-chr15:43800485..43802979,4	K562	blood:

Variant related genes	Relation type
ENSG00000221792	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000140264	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10152845	1.00[EUR][1000 genomes]
rs11856120	1.00[ASN][1000 genomes]
rs16957709	0.96[ASN][1000 genomes]
rs16957739	1.00[ASN][1000 genomes]
rs16961830	1.00[EUR][1000 genomes]
rs16964662	1.00[EUR][1000 genomes]
rs16965109	1.00[EUR][1000 genomes]
rs2004809	0.81[ASN][1000 genomes]
rs2447217	1.00[EUR][1000 genomes]
rs2467416	1.00[EUR][1000 genomes]
rs2614830	1.00[EUR][1000 genomes]
rs28517525	1.00[EUR][1000 genomes]
rs34306395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4419035	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs45490398	1.00[AMR][1000 genomes]
rs45514898	1.00[AMR][1000 genomes]
rs45515692	0.96[ASN][1000 genomes]
rs45566532	0.98[ASN][1000 genomes]
rs45572041	0.96[ASN][1000 genomes]
rs45580139	1.00[ASN][1000 genomes]
rs45617138	1.00[AMR][1000 genomes]
rs45629234	0.96[ASN][1000 genomes]
rs60623655	0.96[ASN][1000 genomes]
rs62018896	1.00[EUR][1000 genomes]
rs7171920	1.00[EUR][1000 genomes]
rs9806735	1.00[EUR][1000 genomes]
rs999025	0.81[ASN][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	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:43741600-43774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:43743800-43773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:43744000-43773400	Strong transcription	Fetal Muscle Leg	muscle
6	chr15:43744000-43773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:43746600-43773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
12	chr15:43749400-43783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:43751400-43775600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:43752400-43772400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr15:43752800-43775200	Strong transcription	Placenta	Placenta
17	chr15:43757400-43773400	Strong transcription	Primary T cells from cord blood	blood
18	chr15:43757800-43773400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr15:43757800-43773400	Strong transcription	Fetal Intestine Large	intestine
20	chr15:43758000-43774800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:43758200-43773200	Strong transcription	Adipose Nuclei	Adipose
22	chr15:43758200-43773400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:43758400-43772400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:43758400-43773200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:43758400-43773400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:43758600-43775800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:43759000-43772600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:43759400-43773400	Strong transcription	Liver	Liver
29	chr15:43759600-43779800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:43759800-43772400	Strong transcription	HUVEC	blood vessel
31	chr15:43760400-43773400	Strong transcription	Fetal Lung	lung
32	chr15:43760400-43773400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr15:43760400-43784600	Weak transcription	Psoas Muscle	Psoas
34	chr15:43761600-43773400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr15:43761800-43773400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr15:43762600-43772600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:43762600-43773400	Strong transcription	HSMMtube	muscle
38	chr15:43762800-43773200	Strong transcription	Brain Cingulate Gyrus	brain
39	chr15:43763200-43773400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:43763200-43773400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:43763200-43774000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:43763400-43775200	Strong transcription	Fetal Stomach	stomach
43	chr15:43763400-43783800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:43763800-43773400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:43764000-43772400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:43764000-43772400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr15:43764000-43773200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr15:43764000-43773400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:43764000-43773400	Strong transcription	Dnd41	blood
50	chr15:43764000-43773400	Strong transcription	K562	blood

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