Variant report

Variant	rs17141190
Chromosome Location	chr7:69563599-69563600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12669460	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12674397	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698810	0.81[AMR][1000 genomes]
rs12698821	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12698829	0.89[ASN][1000 genomes]
rs12698837	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698845	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698852	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698854	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698860	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698868	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698874	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698878	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12698885	0.81[ASN][1000 genomes]
rs12698890	0.81[ASN][1000 genomes]
rs13227197	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13228686	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13230441	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13246213	0.81[ASN][1000 genomes]
rs2204339	0.81[ASN][1000 genomes]
rs34215431	0.91[ASN][1000 genomes]
rs35308787	0.83[EUR][1000 genomes]
rs6460540	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs71535673	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71535674	0.93[EUR][1000 genomes]
rs7782663	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7788868	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7789364	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1022932	chr7:69496659-69564369	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv538925	chr7:69496659-69564369	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1034817	chr7:69507871-69578892	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv538926	chr7:69507871-69578892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1028975	chr7:69513266-69578892	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69558400-69564200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:69558800-69564000	Weak transcription	Osteobl	bone
3	chr7:69560000-69564000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:69560400-69564200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:69560400-69564600	Weak transcription	Brain Anterior Caudate	brain
6	chr7:69562000-69565000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:69562200-69564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:69562400-69564800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:69562400-69565400	Enhancers	Fetal Lung	lung
10	chr7:69562600-69563600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:69562600-69563600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:69562600-69564200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:69562600-69564800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:69562600-69564800	Enhancers	Colon Smooth Muscle	Colon
15	chr7:69562800-69563600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:69562800-69563600	Enhancers	Fetal Muscle Leg	muscle
17	chr7:69562800-69563600	Enhancers	Ovary	ovary
18	chr7:69562800-69564400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:69562800-69564800	Enhancers	Adipose Nuclei	Adipose
20	chr7:69562800-69564800	Enhancers	HSMM	muscle
21	chr7:69562800-69565000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:69562800-69565000	Enhancers	Brain Germinal Matrix	brain
23	chr7:69562800-69565000	Weak transcription	Fetal Brain Female	brain
24	chr7:69562800-69565200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:69563000-69564200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:69563000-69564200	Weak transcription	Fetal Kidney	kidney
27	chr7:69563000-69564600	Enhancers	Fetal Heart	heart
28	chr7:69563200-69563600	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:69563200-69563600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:69563200-69563800	Enhancers	Brain Hippocampus Middle	brain
31	chr7:69563200-69564200	Enhancers	Fetal Intestine Large	intestine
32	chr7:69563400-69563600	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:69563400-69564200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:69563400-69564400	Weak transcription	Fetal Stomach	stomach
35	chr7:69563400-69565000	Enhancers	NH-A	brain
36	chr7:69563400-69565400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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