Variant report

Variant	rs10518712
Chromosome Location	chr15:41372239-41372240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41363827..41365567-chr15:41370879..41372945,2	K562	blood:
2	chr15:41363827..41365915-chr15:41370307..41373958,3	K562	blood:
3	chr15:41344528..41346229-chr15:41370109..41372324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128908	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11630905	1.00[EUR][1000 genomes]
rs1474228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971413	1.00[YRI][hapmap]
rs16971500	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412599	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs2412600	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs2412602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2925348	1.00[EUR][1000 genomes]
rs2947492	1.00[EUR][1000 genomes]
rs2947496	1.00[EUR][1000 genomes]
rs4924534	1.00[EUR][1000 genomes]
rs538903	1.00[EUR][1000 genomes]
rs57008457	1.00[EUR][1000 genomes]
rs57902964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142514	1.00[EUR][1000 genomes]
rs59289835	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59405359	1.00[EUR][1000 genomes]
rs60036819	0.80[AMR][1000 genomes]
rs6492975	0.80[AMR][1000 genomes]
rs692703	1.00[EUR][1000 genomes]
rs7162003	1.00[EUR][1000 genomes]
rs7162394	0.89[YRI][hapmap]
rs7163286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165020	1.00[YRI][hapmap]
rs7165159	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174223	0.83[AMR][1000 genomes]
rs7183191	1.00[EUR][1000 genomes]
rs73399079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399100	1.00[EUR][1000 genomes]
rs73399681	0.80[AMR][1000 genomes]
rs73399694	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73401004	1.00[AMR][1000 genomes]
rs73401688	1.00[AMR][1000 genomes]
rs73401689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73401695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73401698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73401700	1.00[AMR][1000 genomes]
rs8031345	1.00[YRI][hapmap]

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	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv569229	chr15:41361138-41483682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 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	chr15:41328800-41388600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:41334600-41389000	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr15:41336800-41380400	Strong transcription	Osteobl	bone
4	chr15:41341600-41389000	Strong transcription	Liver	Liver
5	chr15:41345200-41373600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:41347000-41380200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr15:41354200-41389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:41354600-41388800	Strong transcription	Fetal Intestine Large	intestine
9	chr15:41354600-41389000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr15:41354800-41388600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr15:41354800-41389200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:41355000-41374200	Strong transcription	Hela-S3	cervix
13	chr15:41355000-41380200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:41355000-41380800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:41355000-41381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:41355000-41388400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:41355000-41389400	Strong transcription	Placenta	Placenta
18	chr15:41355000-41392000	Strong transcription	Fetal Thymus	thymus
19	chr15:41355000-41392400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:41355000-41393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:41355200-41388600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:41355200-41388800	Strong transcription	Primary T cells from cord blood	blood
23	chr15:41355400-41378400	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:41355400-41383200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:41355400-41388800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:41355400-41389200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:41355400-41390200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:41355400-41393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:41355600-41390800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr15:41355800-41381800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:41355800-41389200	Strong transcription	Dnd41	blood
32	chr15:41355800-41391000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:41356400-41388600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:41356600-41380000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:41356600-41387600	Strong transcription	Fetal Stomach	stomach
36	chr15:41356600-41388600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:41356600-41388600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr15:41356600-41389000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr15:41356800-41391000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:41356800-41392200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:41358000-41393600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:41358200-41374000	Strong transcription	GM12878-XiMat	blood
43	chr15:41358200-41375600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr15:41358200-41392000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:41359600-41388800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:41359800-41381000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr15:41359800-41388600	Strong transcription	Fetal Brain Female	brain
48	chr15:41360200-41378400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:41360200-41378800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:41360400-41389200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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