Variant report

Variant	rs12495970
Chromosome Location	chr3:194928138-194928139
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12486636	0.90[YRI][hapmap]
rs2410806	0.84[GIH][hapmap]
rs59739718	0.85[AFR][1000 genomes]
rs6437464	0.82[ASW][hapmap];0.82[LWK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs6777904	0.90[YRI][hapmap]
rs73063164	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73063168	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
20	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12495970	RPL35A	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194916600-194929000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr3:194917600-194929400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:194917600-194930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:194917800-194930400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:194918800-194945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:194919400-194945200	Weak transcription	Thymus	Thymus
7	chr3:194920000-194930800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:194921000-194941600	Weak transcription	Primary T cells from cord blood	blood
9	chr3:194924600-194930200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:194924600-194930800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:194924600-194931800	Enhancers	Placenta	Placenta
12	chr3:194925400-194929000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr3:194925400-194929000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:194925600-194928600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:194925600-194928600	Weak transcription	Right Ventricle	heart
16	chr3:194925600-194929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:194925600-194929000	Weak transcription	Right Atrium	heart
18	chr3:194925600-194931000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:194925800-194928800	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:194925800-194928800	Enhancers	NHDF-Ad	bronchial
21	chr3:194925800-194929800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:194925800-194930000	Weak transcription	Brain Substantia Nigra	brain
23	chr3:194925800-194930400	Weak transcription	Brain Angular Gyrus	brain
24	chr3:194925800-194930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:194926000-194928400	Weak transcription	Brain Germinal Matrix	brain
26	chr3:194926000-194928400	Weak transcription	HSMM	muscle
27	chr3:194926000-194929800	Weak transcription	Liver	Liver
28	chr3:194926000-194930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:194926200-194928600	Weak transcription	Fetal Heart	heart
30	chr3:194926200-194928600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:194926200-194928800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:194926200-194929000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:194926200-194929000	Weak transcription	Colonic Mucosa	Colon
34	chr3:194926200-194929800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:194926200-194930600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:194926200-194930800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:194926400-194928400	Weak transcription	NHLF	lung
38	chr3:194926400-194928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:194926400-194928600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:194926400-194928600	Weak transcription	Lung	lung
41	chr3:194926400-194928600	Weak transcription	HepG2	liver
42	chr3:194926400-194928600	Weak transcription	HSMMtube	muscle
43	chr3:194926400-194928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr3:194926400-194929000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:194926400-194929000	Weak transcription	Brain Anterior Caudate	brain
46	chr3:194926400-194929000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:194926400-194929200	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:194926400-194929600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:194926400-194930000	Weak transcription	Psoas Muscle	Psoas
50	chr3:194926400-194930400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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