Variant report

Variant	rs8030917
Chromosome Location	chr15:30093695-30093696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:30087643..30090373-chr15:30092334..30094638,2	K562	blood:
2	chr15:30088873..30091696-chr15:30091777..30093834,2	K562	blood:
3	chr15:30092733..30096489-chr15:30112182..30116476,4	K562	blood:
4	chr15:30091964..30094234-chr15:30103253..30105641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4553573	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
2	chr15:30058600-30106000	Weak transcription	Gastric	stomach
3	chr15:30062800-30096600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:30063800-30096000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:30063800-30096800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:30065200-30103400	Weak transcription	Placenta	Placenta
7	chr15:30065600-30094400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:30065600-30094400	Weak transcription	Fetal Intestine Small	intestine
9	chr15:30065600-30108200	Weak transcription	Pancreas	Pancrea
10	chr15:30067400-30097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:30071800-30097600	Weak transcription	K562	blood
12	chr15:30081600-30097000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:30082200-30094400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:30082400-30113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:30082600-30097000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:30084600-30094200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:30086000-30094000	Weak transcription	Left Ventricle	heart
18	chr15:30086000-30097000	Weak transcription	HSMMtube	muscle
19	chr15:30086000-30107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:30086200-30096200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:30086200-30097000	Weak transcription	Ovary	ovary
22	chr15:30086200-30097400	Weak transcription	Fetal Brain Male	brain
23	chr15:30086400-30093800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:30086400-30097200	Weak transcription	HepG2	liver
25	chr15:30086600-30097000	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:30086800-30096400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:30086800-30096800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:30087600-30097000	Weak transcription	NHEK	skin
29	chr15:30090600-30094400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:30090800-30094400	Weak transcription	Fetal Intestine Large	intestine
31	chr15:30090800-30096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:30091200-30096600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:30091200-30096800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:30091200-30096800	Weak transcription	NHDF-Ad	bronchial
35	chr15:30091400-30096000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:30091400-30096800	Weak transcription	Osteobl	bone
37	chr15:30091600-30096200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:30091600-30096200	Weak transcription	HMEC	breast
39	chr15:30091800-30108000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:30092000-30093800	Flanking Active TSS	HUVEC	blood vessel
41	chr15:30092000-30099600	Enhancers	Brain Hippocampus Middle	brain
42	chr15:30092200-30099200	Enhancers	Brain Cingulate Gyrus	brain
43	chr15:30092200-30099200	Enhancers	Colon Smooth Muscle	Colon
44	chr15:30092400-30093800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:30092400-30093800	Enhancers	A549	lung
46	chr15:30092400-30096200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:30092600-30095200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr15:30092600-30096600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:30092600-30097000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:30092600-30111400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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