Variant report

Variant	rs17827419
Chromosome Location	chr15:73079253-73079254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73078686..73082116-chr15:73085791..73087796,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBS4-1	chr15:73078841-73079934	NONHSAT047128

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10152150	0.92[EUR][1000 genomes]
rs10519024	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11072386	0.92[EUR][1000 genomes]
rs11072388	0.94[EUR][1000 genomes]
rs12372979	0.87[EUR][1000 genomes]
rs17753627	0.87[EUR][1000 genomes]
rs17753768	0.91[EUR][1000 genomes]
rs17826791	0.91[EUR][1000 genomes]
rs1975327	0.94[EUR][1000 genomes]
rs2415167	0.92[EUR][1000 genomes]
rs34149613	0.92[EUR][1000 genomes]
rs56300009	0.94[EUR][1000 genomes]
rs7170250	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74024330	0.91[EUR][1000 genomes]
rs9806742	0.89[CEU][hapmap];0.92[EUR][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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73077000-73079600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:73077000-73079600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:73077000-73080600	Enhancers	HSMMtube	muscle
4	chr15:73077000-73088800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:73077200-73079400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr15:73077200-73079400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:73077200-73079400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:73077200-73079600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:73077200-73079800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:73077200-73079800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:73077200-73079800	Enhancers	Brain Substantia Nigra	brain
12	chr15:73077200-73080000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:73077200-73080000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:73077200-73080000	Enhancers	GM12878-XiMat	blood
15	chr15:73077200-73080200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:73077200-73080400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:73077200-73080600	Enhancers	Brain Hippocampus Middle	brain
18	chr15:73077200-73081200	Enhancers	Fetal Brain Male	brain
19	chr15:73077400-73079600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:73077400-73079600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:73077400-73081400	Weak transcription	Spleen	Spleen
22	chr15:73077600-73080000	Enhancers	Brain Cingulate Gyrus	brain
23	chr15:73077800-73079400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:73077800-73080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:73078200-73081200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:73078400-73079600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:73078400-73080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:73078600-73080000	Enhancers	Brain Anterior Caudate	brain
29	chr15:73078600-73082000	Weak transcription	NHDF-Ad	bronchial
30	chr15:73078600-73082200	Weak transcription	Osteobl	bone
31	chr15:73078600-73082400	Weak transcription	NH-A	brain
32	chr15:73078800-73079400	Flanking Active TSS	HepG2	liver
33	chr15:73079000-73079400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:73079000-73080000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:73079000-73080600	Enhancers	Fetal Brain Female	brain
36	chr15:73079000-73082400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:73079200-73079800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:73079200-73082200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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