Variant report

Variant	rs719019
Chromosome Location	chr15:45884679-45884680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45878966..45881006-chr15:45882996..45885480,3	MCF-7	breast:
2	chr15:45884544..45886810-chr15:45890101..45892721,2	K562	blood:

Variant related genes	Relation type
ENSG00000104164	Chromatin interaction
ENSG00000260170	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10152775	0.86[AMR][1000 genomes]
rs10152792	0.86[AMR][1000 genomes]
rs1153841	1.00[MEX][hapmap]
rs1288849	1.00[MEX][hapmap]
rs13376	0.94[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1442797	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1529353	0.86[AMR][1000 genomes]
rs1529354	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs1547488	1.00[MEX][hapmap]
rs1547489	1.00[MEX][hapmap]
rs1547490	1.00[MEX][hapmap]
rs1559892	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs1629871	1.00[MEX][hapmap]
rs16944196	1.00[MEX][hapmap]
rs16944305	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs16945588	0.88[ASW][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs16945605	0.96[YRI][hapmap]
rs1970374	0.86[AMR][1000 genomes]
rs2467874	1.00[MEX][hapmap]
rs2467875	1.00[MEX][hapmap]
rs3858908	0.86[AMR][1000 genomes]
rs4598849	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58055978	0.86[AMR][1000 genomes]
rs58078831	0.86[AMR][1000 genomes]
rs60561729	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61169737	0.86[AMR][1000 genomes]
rs61186343	0.86[AMR][1000 genomes]
rs61500896	0.86[AMR][1000 genomes]
rs61756712	0.86[AMR][1000 genomes]
rs6493153	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs6493158	0.81[LWK][hapmap]
rs679569	0.88[ASW][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs7163098	0.93[AMR][1000 genomes]
rs7165846	0.86[AMR][1000 genomes]
rs7166434	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs7168313	0.81[AMR][1000 genomes]
rs7168672	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs7169748	0.83[YRI][hapmap]
rs7170941	0.86[AMR][1000 genomes]
rs7173046	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs7173983	0.83[YRI][hapmap]
rs7183382	0.94[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs719018	0.88[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414486	0.86[AMR][1000 genomes]
rs73416403	0.86[AMR][1000 genomes]
rs73416407	0.86[AMR][1000 genomes]
rs73416479	0.86[AMR][1000 genomes]
rs73416487	0.86[AMR][1000 genomes]
rs73418308	0.86[AMR][1000 genomes]
rs73418387	0.86[AMR][1000 genomes]
rs73418395	0.86[AMR][1000 genomes]
rs73420403	0.86[AMR][1000 genomes]
rs73420405	0.86[AMR][1000 genomes]
rs73420406	0.86[AMR][1000 genomes]
rs73420408	0.86[AMR][1000 genomes]
rs73420409	0.86[AMR][1000 genomes]
rs73420412	0.86[AMR][1000 genomes]
rs73420415	0.86[AMR][1000 genomes]
rs73420427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420456	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7342662	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7495403	0.86[AMR][1000 genomes]
rs751819	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8025600	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027324	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8029983	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8034420	0.86[AMR][1000 genomes]
rs8042179	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8042253	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8042662	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv1045556	chr15:45777396-45884854	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45880200-45887000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:45880400-45887000	Weak transcription	Lung	lung
3	chr15:45880400-45900400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:45881000-45886200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:45881000-45886600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:45881000-45888600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:45881000-45900200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:45881000-45908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:45881000-45908800	Weak transcription	Esophagus	oesophagus
10	chr15:45881200-45884800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:45881200-45886600	Weak transcription	Left Ventricle	heart
12	chr15:45881200-45888200	Weak transcription	Aorta	Aorta
13	chr15:45881200-45888200	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:45881200-45888200	Weak transcription	Right Ventricle	heart
15	chr15:45881200-45889600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:45881200-45890200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:45881200-45895800	Weak transcription	Spleen	Spleen
18	chr15:45881200-45898000	Weak transcription	Pancreas	Pancrea
19	chr15:45881200-45899800	Weak transcription	Small Intestine	intestine
20	chr15:45881200-45900200	Weak transcription	Colonic Mucosa	Colon
21	chr15:45881200-45900200	Weak transcription	Gastric	stomach
22	chr15:45881200-45909000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:45881400-45884800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:45881400-45885000	Weak transcription	Fetal Stomach	stomach
25	chr15:45881400-45888200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:45881400-45898200	Weak transcription	HSMMtube	muscle
27	chr15:45881600-45885600	Weak transcription	Brain Germinal Matrix	brain
28	chr15:45881600-45901800	Weak transcription	Psoas Muscle	Psoas
29	chr15:45881800-45884800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:45881800-45885000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:45881800-45886800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:45881800-45887000	Weak transcription	Thymus	Thymus
33	chr15:45881800-45887200	Weak transcription	HMEC	breast
34	chr15:45881800-45888000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:45881800-45888200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:45881800-45889000	Weak transcription	A549	lung
37	chr15:45881800-45891800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:45881800-45896400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:45881800-45896800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:45881800-45898000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:45881800-45898200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:45881800-45903400	Weak transcription	Brain Substantia Nigra	brain
43	chr15:45881800-45904800	Weak transcription	NHEK	skin
44	chr15:45882000-45884800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:45882000-45884800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:45882000-45886400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:45882000-45887000	Weak transcription	Fetal Brain Male	brain
48	chr15:45882000-45888400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:45882000-45889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:45882000-45908600	Weak transcription	NHLF	lung

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