Variant report

Variant	rs17457848
Chromosome Location	chr7:69283477-69283478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10487941	1.00[AMR][1000 genomes]
rs12164074	0.93[AMR][1000 genomes]
rs17140848	0.95[ASN][1000 genomes]
rs17140871	0.95[ASN][1000 genomes]
rs17141015	0.94[ASN][1000 genomes]
rs17353017	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17361399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17362481	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17362817	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17363468	0.84[EUR][1000 genomes]
rs17364237	1.00[AMR][1000 genomes]
rs17458533	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17459271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17459369	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17459722	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2191824	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4140975	0.89[ASN][1000 genomes]
rs58305621	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58974518	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59797025	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6460529	0.86[ASN][1000 genomes]
rs6460531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6970097	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6975213	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7781686	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7790458	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69277800-69285000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:69277800-69285000	Enhancers	Fetal Heart	heart
3	chr7:69277800-69286200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:69278400-69286000	Enhancers	Rectal Smooth Muscle	rectum
5	chr7:69279000-69287000	Weak transcription	GM12878-XiMat	blood
6	chr7:69279800-69285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:69279800-69289000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:69279800-69289600	Weak transcription	Psoas Muscle	Psoas
9	chr7:69280200-69284400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69280200-69287200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:69280800-69284600	Enhancers	Fetal Stomach	stomach
12	chr7:69280800-69286200	Enhancers	Fetal Intestine Small	intestine
13	chr7:69281000-69285800	Enhancers	Fetal Muscle Leg	muscle
14	chr7:69281000-69286000	Enhancers	Colon Smooth Muscle	Colon
15	chr7:69281200-69285400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:69281400-69284600	Enhancers	Brain Angular Gyrus	brain
17	chr7:69281400-69284600	Enhancers	Brain Hippocampus Middle	brain
18	chr7:69281600-69284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:69281800-69284600	Enhancers	Brain Anterior Caudate	brain
20	chr7:69281800-69284800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:69281800-69285800	Enhancers	Fetal Lung	lung
22	chr7:69282000-69284400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:69282000-69284600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:69282000-69284600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:69282000-69284600	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:69282000-69284800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:69282000-69285200	Enhancers	Fetal Brain Male	brain
28	chr7:69282400-69283600	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:69282400-69284400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:69282600-69283600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:69282600-69284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:69282600-69284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:69282600-69285000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:69282800-69283600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr7:69282800-69284000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:69282800-69284400	Weak transcription	Left Ventricle	heart
37	chr7:69282800-69287200	Weak transcription	Right Atrium	heart
38	chr7:69282800-69288000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:69282800-69288200	Weak transcription	Thymus	Thymus
40	chr7:69282800-69289400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:69282800-69289600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:69283000-69284000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:69283000-69284000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:69283000-69284000	Weak transcription	Lung	lung
45	chr7:69283000-69284600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:69283000-69286400	Weak transcription	Ovary	ovary
47	chr7:69283000-69287400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:69283200-69283600	Weak transcription	Fetal Intestine Large	intestine
49	chr7:69283200-69284200	Weak transcription	HSMMtube	muscle
50	chr7:69283200-69288200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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