Variant report

Variant	rs4705171
Chromosome Location	chr5:146822457-146822458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10056132	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10072652	0.86[YRI][hapmap]
rs10079318	0.83[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12054712	0.82[YRI][hapmap]
rs17106769	0.86[YRI][hapmap]
rs4705172	0.99[EUR][1000 genomes]
rs7713047	0.96[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs7725771	0.86[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7732327	0.95[CEU][hapmap];0.99[EUR][1000 genomes]
rs995976	0.96[CEU][hapmap];0.93[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4705171	ABLIM3	cis	parietal	SCAN
rs4705171	DPYSL3	cis	cerebellum	SCAN
rs4705171	PRELID2	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:146810000-146823400	Weak transcription	Small Intestine	intestine
3	chr5:146810800-146822600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:146812200-146825600	Weak transcription	Placenta	Placenta
5	chr5:146812400-146824400	Weak transcription	Fetal Stomach	stomach
6	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
7	chr5:146813200-146828200	Weak transcription	NHLF	lung
8	chr5:146813600-146822600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:146814200-146826400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:146816800-146823400	Weak transcription	Left Ventricle	heart
11	chr5:146816800-146826200	Weak transcription	Lung	lung
12	chr5:146817200-146824600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:146817200-146825600	Weak transcription	Right Atrium	heart
14	chr5:146817200-146826200	Weak transcription	Psoas Muscle	Psoas
15	chr5:146817200-146829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:146817200-146830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
18	chr5:146817400-146824600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:146817400-146824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:146818200-146824600	Weak transcription	Brain Anterior Caudate	brain
21	chr5:146818600-146822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:146819000-146825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:146819200-146822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:146819200-146822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:146819200-146823400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:146819200-146824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:146819200-146824600	Weak transcription	Aorta	Aorta
28	chr5:146819200-146825400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:146819200-146825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:146819200-146825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:146819200-146826000	Weak transcription	NH-A	brain
32	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
34	chr5:146819400-146823400	Weak transcription	Fetal Brain Female	brain
35	chr5:146819400-146824200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:146819400-146824800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:146819400-146825000	Weak transcription	NHDF-Ad	bronchial
38	chr5:146819400-146826200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:146820200-146824400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:146820400-146823200	Weak transcription	Fetal Brain Male	brain
41	chr5:146820400-146823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:146820600-146825600	Weak transcription	Brain Substantia Nigra	brain
43	chr5:146822000-146823000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:146822000-146823200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:146822000-146823400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:146822000-146823400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:146822000-146826000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:146822000-146826200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:146822200-146822800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr5:146822200-146823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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