Variant report

Variant	rs58142514
Chromosome Location	chr15:41370370-41370371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41369235..41371146-chr15:41373294..41375147,2	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: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10152296	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs10518712	1.00[EUR][1000 genomes]
rs11070319	1.00[AMR][1000 genomes]
rs11070320	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11630905	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1474228	1.00[EUR][1000 genomes]
rs16971263	0.88[AMR][1000 genomes]
rs16971463	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs16971500	1.00[EUR][1000 genomes]
rs2412602	1.00[EUR][1000 genomes]
rs28455970	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs28528813	0.83[AMR][1000 genomes]
rs2899010	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2925348	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2925349	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2927067	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2928147	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2928149	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2928150	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2928154	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2947492	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2947495	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2947496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2955812	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs3101435	0.88[AMR][1000 genomes]
rs3101438	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs3101441	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4468583	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs474351	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs480549	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs487779	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4923894	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4923895	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4924534	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs496499	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs513680	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs518137	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs525551	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs538903	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56955512	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs57008457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57385441	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs57902964	1.00[EUR][1000 genomes]
rs59289835	1.00[EUR][1000 genomes]
rs59405359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs690773	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs691069	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs691722	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs692703	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7162003	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163286	1.00[EUR][1000 genomes]
rs7165159	1.00[EUR][1000 genomes]
rs7167166	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7172555	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7173146	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7174513	0.94[AMR][1000 genomes]
rs7183191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399079	1.00[EUR][1000 genomes]
rs73399082	1.00[EUR][1000 genomes]
rs73399092	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73399093	1.00[EUR][1000 genomes]
rs73399100	1.00[EUR][1000 genomes]
rs73401689	1.00[EUR][1000 genomes]
rs73401695	1.00[EUR][1000 genomes]
rs73401698	1.00[EUR][1000 genomes]
rs8032956	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs8034461	1.00[AMR][1000 genomes]
rs8035532	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs8043232	0.83[AMR][1000 genomes]
rs9806344	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv974711	chr15:41360002-41370961	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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	chr15:41355000-41370800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr15:41355000-41374200	Strong transcription	Hela-S3	cervix
14	chr15:41355000-41380200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:41355000-41380800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:41355000-41381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:41355000-41388400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:41355000-41389400	Strong transcription	Placenta	Placenta
19	chr15:41355000-41392000	Strong transcription	Fetal Thymus	thymus
20	chr15:41355000-41392400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:41355000-41393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:41355200-41370600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:41355200-41388600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:41355200-41388800	Strong transcription	Primary T cells from cord blood	blood
25	chr15:41355400-41370800	Weak transcription	Pancreas	Pancrea
26	chr15:41355400-41371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:41355400-41378400	Strong transcription	Fetal Muscle Leg	muscle
28	chr15:41355400-41383200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:41355400-41388800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:41355400-41389200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:41355400-41390200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:41355400-41393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:41355600-41370800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:41355600-41390800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr15:41355800-41370800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:41355800-41381800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:41355800-41389200	Strong transcription	Dnd41	blood
38	chr15:41355800-41391000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:41356400-41371000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:41356400-41388600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:41356600-41380000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:41356600-41387600	Strong transcription	Fetal Stomach	stomach
43	chr15:41356600-41388600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:41356600-41388600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr15:41356600-41389000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr15:41356800-41391000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:41356800-41392200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:41358000-41393600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:41358200-41374000	Strong transcription	GM12878-XiMat	blood
50	chr15:41358200-41375600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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