Variant report

Variant	rs12634099
Chromosome Location	chr3:112869208-112869209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10511319	0.81[ASN][1000 genomes]
rs10934222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10934223	0.81[EUR][1000 genomes]
rs10934224	0.81[EUR][1000 genomes]
rs11712319	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11716722	0.86[ASN][1000 genomes]
rs11720141	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11923603	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs12490566	0.86[ASN][1000 genomes]
rs12631163	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12631199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178398	0.86[ASN][1000 genomes]
rs2204788	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2204789	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2700229	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732812	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4528911	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4555493	0.86[ASN][1000 genomes]
rs62262801	0.86[ASN][1000 genomes]
rs62264166	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62264172	0.80[EUR][1000 genomes]
rs6770160	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs871595	0.84[ASN][1000 genomes]
rs9855348	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112863400-112870600	Weak transcription	Left Ventricle	heart
2	chr3:112865200-112871400	Enhancers	Fetal Stomach	stomach
3	chr3:112865600-112870000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:112865600-112870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:112865800-112870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:112866400-112869800	Enhancers	Fetal Muscle Leg	muscle
7	chr3:112866800-112869600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:112867400-112869400	Weak transcription	Fetal Intestine Large	intestine
9	chr3:112867600-112869600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:112867600-112870400	Weak transcription	Small Intestine	intestine
11	chr3:112867600-112870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:112867600-112870600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:112867600-112870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:112867600-112871800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:112867600-112872200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:112867600-112872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:112867800-112872200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:112867800-112872200	Weak transcription	NHEK	skin
19	chr3:112867800-112872400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:112867800-112872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:112867800-112872400	Weak transcription	HMEC	breast
22	chr3:112867800-112872600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:112867800-112873200	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:112868000-112871000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:112868000-112873400	Enhancers	Colon Smooth Muscle	Colon
26	chr3:112868200-112869400	Weak transcription	Fetal Lung	lung
27	chr3:112868200-112870000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:112868200-112870200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:112868200-112870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:112868200-112871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:112868200-112871400	Enhancers	Stomach Smooth Muscle	stomach
32	chr3:112868200-112874400	Weak transcription	Placenta	Placenta
33	chr3:112868400-112869800	Weak transcription	Fetal Intestine Small	intestine
34	chr3:112868800-112869600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:112869000-112869400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:112869000-112869400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr3:112869000-112869400	Enhancers	Fetal Muscle Trunk	muscle
38	chr3:112869000-112869400	Enhancers	Psoas Muscle	Psoas
39	chr3:112869000-112869600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:112869000-112869600	Enhancers	Spleen	Spleen
41	chr3:112869000-112869800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:112869000-112871200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:112869000-112871600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:112869000-112872400	Enhancers	Adipose Nuclei	Adipose
45	chr3:112869000-112873000	Enhancers	Fetal Kidney	kidney
46	chr3:112869200-112869400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:112869200-112869400	Enhancers	Pancreas	Pancrea
48	chr3:112869200-112869400	Weak transcription	Right Atrium	heart
49	chr3:112869200-112869800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:112869200-112870400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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