Variant report

Variant	rs1871678
Chromosome Location	chr15:30019505-30019506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10152681	0.86[ASN][1000 genomes]
rs11073205	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12438925	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1383315	0.83[ASN][1000 genomes]
rs1480503	0.83[ASN][1000 genomes]
rs1552077	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1679647	0.91[ASN][1000 genomes]
rs2229518	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2337167	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs260528	0.80[ASN][1000 genomes]
rs260529	0.80[ASN][1000 genomes]
rs260531	0.80[ASN][1000 genomes]
rs260532	0.80[ASN][1000 genomes]
rs260533	0.80[ASN][1000 genomes]
rs260534	0.80[ASN][1000 genomes]
rs260535	0.80[ASN][1000 genomes]
rs260538	0.97[ASN][1000 genomes]
rs2878893	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2878905	0.80[ASN][1000 genomes]
rs4073316	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4362339	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779670	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4780258	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4780259	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4780260	0.80[ASN][1000 genomes]
rs6495890	0.84[EUR][1000 genomes]
rs6495914	0.83[ASN][1000 genomes]
rs6495927	0.80[ASN][1000 genomes]
rs6495935	0.80[ASN][1000 genomes]
rs7171815	0.80[ASN][1000 genomes]
rs7176476	0.80[ASN][1000 genomes]
rs7176594	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7180387	0.80[ASN][1000 genomes]
rs767514	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs785445	0.80[ASN][1000 genomes]
rs8023974	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8027827	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29989600-30021200	Strong transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:29989600-30027200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:29990200-30028400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:29990400-30026400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr15:29991200-30020200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:29991200-30022400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:29992000-30026600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:29993200-30019600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:29996200-30021400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:30005000-30023000	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr15:30005400-30022800	Strong transcription	HSMMtube	muscle
12	chr15:30007200-30021400	Strong transcription	Fetal Kidney	kidney
13	chr15:30007200-30021400	Strong transcription	NHLF	lung
14	chr15:30014800-30021200	Strong transcription	HMEC	breast
15	chr15:30014800-30028400	Strong transcription	NHEK	skin
16	chr15:30015000-30021600	Strong transcription	Brain Angular Gyrus	brain
17	chr15:30015000-30022200	Strong transcription	Osteobl	bone
18	chr15:30015000-30024400	Weak transcription	Psoas Muscle	Psoas
19	chr15:30015000-30028400	Weak transcription	Stomach Mucosa	stomach
20	chr15:30015000-30035000	Strong transcription	Adipose Nuclei	Adipose
21	chr15:30015200-30020800	Strong transcription	Brain Anterior Caudate	brain
22	chr15:30015200-30021200	Strong transcription	Brain Hippocampus Middle	brain
23	chr15:30015200-30021400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:30015200-30021400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr15:30015200-30021600	Strong transcription	Ovary	ovary
26	chr15:30015200-30022800	Strong transcription	NH-A	brain
27	chr15:30015200-30023200	Strong transcription	Placenta	Placenta
28	chr15:30015200-30024200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:30015400-30019600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr15:30015400-30026600	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr15:30015400-30028600	Strong transcription	HUVEC	blood vessel
32	chr15:30015600-30021000	Strong transcription	NHDF-Ad	bronchial
33	chr15:30015600-30021400	Strong transcription	Fetal Lung	lung
34	chr15:30015600-30026600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:30015600-30034800	Strong transcription	Fetal Muscle Leg	muscle
36	chr15:30015600-30035200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:30015600-30037600	Weak transcription	Small Intestine	intestine
38	chr15:30015800-30023000	Strong transcription	Fetal Stomach	stomach
39	chr15:30015800-30023200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:30015800-30026400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:30015800-30026800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr15:30015800-30027200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:30015800-30027600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:30015800-30034400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr15:30016400-30020400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr15:30016400-30021000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:30016600-30020000	Weak transcription	Colonic Mucosa	Colon
48	chr15:30016600-30020200	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr15:30016600-30021400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:30016600-30021400	Strong transcription	HSMM	muscle

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