Variant report

Variant	rs17508185
Chromosome Location	chr7:8055252-8055253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11972865	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17566854	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34001876	1.00[AFR][1000 genomes]
rs55746128	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55832940	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56017154	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56142807	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56195338	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73049231	0.87[AMR][1000 genomes]
rs73049238	0.87[AMR][1000 genomes]
rs73049239	0.81[AMR][1000 genomes]
rs73049252	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73049256	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73049270	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049276	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049290	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049293	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049297	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049300	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73050915	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73050929	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73050940	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73050951	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73050956	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73050958	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73050959	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73053544	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73053556	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73053562	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73053563	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
4	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8036400-8077400	Weak transcription	Right Ventricle	heart
2	chr7:8036600-8057200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:8036600-8064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:8036600-8064400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:8036600-8074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:8038000-8066000	Weak transcription	Pancreas	Pancrea
7	chr7:8038400-8066000	Weak transcription	Spleen	Spleen
8	chr7:8041600-8064400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:8041600-8095000	Weak transcription	Gastric	stomach
10	chr7:8041800-8075400	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:8042800-8064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:8043600-8068400	Weak transcription	NH-A	brain
14	chr7:8043800-8064400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:8043800-8064600	Weak transcription	Small Intestine	intestine
16	chr7:8044000-8062600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:8044200-8063800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:8044200-8066000	Weak transcription	Lung	lung
19	chr7:8044600-8074400	Weak transcription	Brain Angular Gyrus	brain
20	chr7:8044800-8064400	Weak transcription	Aorta	Aorta
21	chr7:8045200-8066000	Weak transcription	Fetal Brain Male	brain
22	chr7:8046800-8062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:8046800-8064200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:8046800-8064400	Weak transcription	Ovary	ovary
25	chr7:8046800-8066000	Weak transcription	Left Ventricle	heart
26	chr7:8046800-8074400	Weak transcription	Brain Substantia Nigra	brain
27	chr7:8047000-8062200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:8047000-8064000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:8047000-8066000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:8047200-8059200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:8047200-8062200	Weak transcription	Brain Anterior Caudate	brain
32	chr7:8047200-8062200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:8047200-8063800	Weak transcription	Fetal Lung	lung
34	chr7:8047200-8064000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:8047200-8064000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:8047200-8064000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:8047200-8064400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:8047200-8065200	Weak transcription	Fetal Kidney	kidney
39	chr7:8047200-8065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:8047200-8066000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:8047200-8066200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:8047400-8062400	Weak transcription	Brain Germinal Matrix	brain
43	chr7:8047400-8063400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:8047400-8063400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:8047400-8064000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:8047400-8064400	Weak transcription	Fetal Brain Female	brain
47	chr7:8047400-8064400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:8047400-8066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:8047400-8066000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:8047400-8066000	Weak transcription	Rectal Mucosa Donor 31	rectum

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