Variant report

Variant	rs7716749
Chromosome Location	chr5:17056663-17056664
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	chr5:17055618..17058211-chr5:17065724..17068403,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11133881	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12186388	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12186858	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12187047	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3860140	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4072898	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4072899	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4607350	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4701680	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4702192	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62350295	0.81[ASN][1000 genomes]
rs6554964	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6554965	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6554966	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6897712	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72636107	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72636108	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7710867	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7730952	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9688197	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17050800-17057400	Weak transcription	HUVEC	blood vessel
2	chr5:17052800-17058000	Enhancers	Fetal Brain Male	brain
3	chr5:17054200-17057400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:17055600-17060000	Enhancers	Stomach Mucosa	stomach
5	chr5:17055800-17056800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:17055800-17057000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:17055800-17058000	Enhancers	Adipose Nuclei	Adipose
8	chr5:17056000-17057800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:17056000-17058000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:17056000-17058000	Enhancers	NHEK	skin
11	chr5:17056200-17056800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:17056200-17056800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:17056200-17057000	Enhancers	Fetal Muscle Leg	muscle
14	chr5:17056200-17057800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:17056200-17057800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:17056200-17057800	Enhancers	Fetal Brain Female	brain
17	chr5:17056200-17058000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:17056200-17058000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:17056200-17058200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:17056200-17058200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:17056400-17056800	Enhancers	Ovary	ovary
22	chr5:17056400-17056800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:17056400-17057400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:17056400-17057400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:17056400-17057400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:17056400-17057400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:17056400-17057400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:17056400-17057400	Weak transcription	HMEC	breast
29	chr5:17056400-17057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:17056400-17058000	Enhancers	Pancreas	Pancrea
31	chr5:17056600-17056800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:17056600-17056800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:17056600-17056800	Enhancers	Small Intestine	intestine
34	chr5:17056600-17056800	Enhancers	Hela-S3	cervix
35	chr5:17056600-17057600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:17056600-17057600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:17056600-17057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:17056600-17057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:17056600-17057600	Enhancers	A549	lung
40	chr5:17056600-17057600	Weak transcription	NH-A	brain
41	chr5:17056600-17057600	Weak transcription	NHDF-Ad	bronchial
42	chr5:17056600-17057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:17056600-17058400	Enhancers	Fetal Stomach	stomach
44	chr5:17056600-17058600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:17056600-17062200	Weak transcription	Placenta	Placenta

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