Variant report

Variant	rs1435653
Chromosome Location	chr3:118704967-118704968
allele	G/T
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:22)

rs_ID	r²[population]
rs1016284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709001	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709968	0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11715148	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11922973	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053925	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738897	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1836689	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1836691	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1879553	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2160050	0.94[ASN][1000 genomes]
rs4405907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4687832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687834	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55742142	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56232409	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56234333	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60755482	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636874	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv877369	chr3:118681771-118824418	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2756586	chr3:118688611-118863998	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118688800-118706000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:118699200-118706000	Enhancers	Brain Substantia Nigra	brain
3	chr3:118700200-118706200	Enhancers	Brain Hippocampus Middle	brain
4	chr3:118700400-118705800	Enhancers	Brain Cingulate Gyrus	brain
5	chr3:118700400-118706000	Enhancers	Brain Angular Gyrus	brain
6	chr3:118700400-118707800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:118701000-118706200	Weak transcription	Psoas Muscle	Psoas
8	chr3:118701600-118709800	Enhancers	Brain Anterior Caudate	brain
9	chr3:118702200-118710600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:118703000-118707800	Enhancers	Fetal Heart	heart
11	chr3:118703200-118707400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:118703400-118705000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:118703600-118705000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:118703600-118705200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:118703600-118705200	Enhancers	Right Atrium	heart
16	chr3:118703600-118707800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:118703600-118708200	Enhancers	Ovary	ovary
18	chr3:118703600-118710000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:118703800-118705200	Enhancers	K562	blood
20	chr3:118703800-118705800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:118703800-118706000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:118703800-118706200	Weak transcription	Left Ventricle	heart
23	chr3:118704200-118706600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:118704200-118710000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:118704400-118706000	Weak transcription	Fetal Brain Male	brain
26	chr3:118704400-118706600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:118704400-118707200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:118704400-118707600	Enhancers	Stomach Smooth Muscle	stomach
29	chr3:118704400-118710200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:118704600-118705200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:118704600-118705200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:118704600-118707600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr3:118704600-118707800	Enhancers	Brain Germinal Matrix	brain
34	chr3:118704800-118705000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:118704800-118705200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:118704800-118705200	Enhancers	Placenta	Placenta
37	chr3:118704800-118705200	Enhancers	Pancreas	Pancrea
38	chr3:118704800-118706800	Enhancers	Colon Smooth Muscle	Colon
39	chr3:118704800-118707000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:118704800-118707200	Enhancers	HUES64 Cell Line	embryonic stem cell

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