Variant report

Variant	rs61250004
Chromosome Location	chr15:41193968-41193969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41193554..41195434-chr15:41232672..41235208,2	K562	blood:
2	chr15:41186714..41189408-chr15:41192146..41195371,4	MCF-7	breast:
3	chr15:41185728..41189415-chr15:41190458..41194976,6	MCF-7	breast:
4	chr15:41192590..41194412-chr15:41220232..41223014,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128917	Chromatin interaction
ENSG00000104142	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12591803	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8024138	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41187600-41194400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41187800-41195400	Weak transcription	Fetal Kidney	kidney
3	chr15:41188000-41196000	Weak transcription	Right Atrium	heart
4	chr15:41188200-41194600	Strong transcription	Fetal Muscle Leg	muscle
5	chr15:41188200-41195800	Weak transcription	Stomach Mucosa	stomach
6	chr15:41188200-41196000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:41188200-41196200	Weak transcription	Fetal Brain Male	brain
8	chr15:41188200-41197200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:41188200-41197200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:41188200-41197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:41188200-41197800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:41188200-41198000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:41188200-41198800	Weak transcription	Small Intestine	intestine
14	chr15:41188400-41194000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:41188400-41194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:41188400-41194800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:41188400-41195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:41188400-41195200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:41188400-41195400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:41188400-41195600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:41188400-41195800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:41188400-41196000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:41188400-41196200	Strong transcription	Fetal Lung	lung
24	chr15:41188400-41197000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:41188400-41197200	Strong transcription	HepG2	liver
26	chr15:41188400-41197400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:41188400-41197600	Strong transcription	Osteobl	bone
28	chr15:41188400-41197800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:41188400-41198000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:41188400-41198000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:41188600-41194000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:41188600-41194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:41188600-41194600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:41188600-41195400	Strong transcription	Liver	Liver
35	chr15:41188600-41196000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:41188600-41196800	Strong transcription	Fetal Intestine Large	intestine
37	chr15:41189000-41195600	Strong transcription	Brain Anterior Caudate	brain
38	chr15:41189200-41194600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr15:41189400-41195200	Strong transcription	Brain Hippocampus Middle	brain
40	chr15:41189400-41195800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr15:41189800-41196200	Strong transcription	NHDF-Ad	bronchial
42	chr15:41189800-41198200	Strong transcription	Fetal Brain Female	brain
43	chr15:41190000-41197400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr15:41190400-41195200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:41190600-41195000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:41190600-41195400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr15:41190600-41196000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr15:41190800-41194200	Strong transcription	Primary B cells from cord blood	blood
49	chr15:41190800-41196000	Strong transcription	Lung	lung
50	chr15:41190800-41196000	Strong transcription	Rectal Mucosa Donor 31	rectum

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