Variant report

Variant	rs34399157
Chromosome Location	chr15:30116683-30116684
allele	-/CAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30115117..30117286-chr15:30127029..30129725,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16955763	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2306437	1.00[EUR][1000 genomes]
rs3809503	1.00[EUR][1000 genomes]
rs45496092	1.00[EUR][1000 genomes]
rs45505896	1.00[EUR][1000 genomes]
rs45560035	1.00[EUR][1000 genomes]
rs45610140	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74008551	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30115400-30117200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:30115400-30119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:30115400-30121000	Weak transcription	Lung	lung
4	chr15:30115600-30117400	Weak transcription	NH-A	brain
5	chr15:30115600-30118600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:30115600-30118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:30115600-30119000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:30115600-30119000	Weak transcription	Brain Angular Gyrus	brain
9	chr15:30115600-30119000	Weak transcription	Left Ventricle	heart
10	chr15:30115600-30119000	Weak transcription	Right Atrium	heart
11	chr15:30115600-30119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:30115600-30119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:30115600-30124400	Weak transcription	Spleen	Spleen
14	chr15:30115600-30127200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:30115600-30132800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:30115600-30136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:30115800-30117200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:30115800-30117200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:30115800-30117400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:30115800-30117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:30115800-30117400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:30115800-30117400	Weak transcription	Fetal Lung	lung
23	chr15:30115800-30117600	Weak transcription	Fetal Kidney	kidney
24	chr15:30115800-30117600	Weak transcription	HSMM	muscle
25	chr15:30115800-30118800	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:30115800-30119000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:30115800-30119200	Weak transcription	Brain Anterior Caudate	brain
28	chr15:30115800-30119200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:30115800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:30115800-30119600	Weak transcription	Adipose Nuclei	Adipose
31	chr15:30115800-30119800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:30116000-30117200	Weak transcription	Osteobl	bone
33	chr15:30116000-30117400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:30116000-30117400	Weak transcription	A549	lung
35	chr15:30116000-30117400	Weak transcription	NHDF-Ad	bronchial
36	chr15:30116000-30117400	Weak transcription	NHLF	lung
37	chr15:30116000-30118800	Weak transcription	Brain Substantia Nigra	brain
38	chr15:30116000-30118800	Weak transcription	Fetal Heart	heart
39	chr15:30116000-30118800	Weak transcription	Placenta	Placenta
40	chr15:30116000-30121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:30116200-30119000	Weak transcription	Right Ventricle	heart
42	chr15:30116400-30116800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr15:30116400-30118000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:30116400-30118400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr15:30116400-30118600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:30116400-30119200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr15:30116600-30116800	Bivalent Enhancer	Primary T cells from cord blood	blood
48	chr15:30116600-30117600	Weak transcription	Esophagus	oesophagus
49	chr15:30116600-30118000	Enhancers	NHEK	skin
50	chr15:30116600-30118200	Enhancers	HUVEC	blood vessel

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