Variant report

Variant	rs12187703
Chromosome Location	chr5:17057948-17057949
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17055618..17058211-chr5:17065724..17068403,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12187367	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12187713	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2128310	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702195	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62348825	0.96[AMR][1000 genomes]
rs62348833	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62350296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62350299	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6870378	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6875333	0.84[ASN][1000 genomes]
rs6875641	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6884550	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72734400	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17052800-17058000	Enhancers	Fetal Brain Male	brain
2	chr5:17055600-17060000	Enhancers	Stomach Mucosa	stomach
3	chr5:17055800-17058000	Enhancers	Adipose Nuclei	Adipose
4	chr5:17056000-17058000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:17056000-17058000	Enhancers	NHEK	skin
6	chr5:17056200-17058000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:17056200-17058000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:17056200-17058200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:17056200-17058200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:17056400-17058000	Enhancers	Pancreas	Pancrea
11	chr5:17056600-17058400	Enhancers	Fetal Stomach	stomach
12	chr5:17056600-17058600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:17056600-17062200	Weak transcription	Placenta	Placenta
14	chr5:17056800-17062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:17056800-17064600	Weak transcription	Ovary	ovary
16	chr5:17057200-17058000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:17057200-17058200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:17057200-17058200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:17057200-17058200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:17057400-17058000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:17057400-17058000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:17057400-17058000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:17057400-17058000	Enhancers	Brain Angular Gyrus	brain
24	chr5:17057400-17058000	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:17057400-17058000	Enhancers	Duodenum Mucosa	Duodenum
26	chr5:17057400-17058000	Enhancers	Fetal Lung	lung
27	chr5:17057400-17058000	Enhancers	Small Intestine	intestine
28	chr5:17057400-17058200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr5:17057400-17058600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:17057400-17058600	Enhancers	HUVEC	blood vessel
31	chr5:17057600-17058000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:17057600-17058000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:17057600-17058000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:17057600-17058000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:17057600-17058000	Enhancers	Stomach Smooth Muscle	stomach
36	chr5:17057600-17058000	Flanking Active TSS	A549	lung
37	chr5:17057600-17058000	Enhancers	NH-A	brain
38	chr5:17057600-17058200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:17057600-17058200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:17057600-17058200	Enhancers	Fetal Intestine Small	intestine
41	chr5:17057600-17058200	Enhancers	NHLF	lung
42	chr5:17057600-17058600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:17057800-17058200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:17057800-17058200	Enhancers	Osteobl	bone

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