Variant report

Variant	rs2131876
Chromosome Location	chr3:194854788-194854789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194843338..194845885-chr3:194853266..194854895,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1009642	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707930	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13314605	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13315459	0.82[YRI][hapmap]
rs1552893	0.86[CEU][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes]
rs2172695	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs3892194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300953	0.86[CEU][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs4645095	0.82[AMR][1000 genomes]
rs4677663	0.81[CEU][hapmap]
rs4677810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4677812	0.86[CEU][hapmap]
rs4677813	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4677818	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55751800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55879118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6785310	0.90[JPT][hapmap];0.85[MEX][hapmap]
rs750470	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7644208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874197	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874198	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs903310	0.81[CEU][hapmap]
rs950257	0.86[CEU][hapmap]
rs9848862	0.86[CEU][hapmap];0.81[MEX][hapmap]
rs9882160	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	esv996963	chr3:194845436-194854988	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2131876	RPL35A	cis	cerebellum	SCAN
rs2131876	LOC348840	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:194831600-194857400	Weak transcription	Pancreas	Pancrea
3	chr3:194832800-194856200	Weak transcription	Primary T cells from cord blood	blood
4	chr3:194839200-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:194839200-194861400	Weak transcription	Aorta	Aorta
6	chr3:194841000-194872800	Weak transcription	HSMMtube	muscle
7	chr3:194841400-194868800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:194843800-194856600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:194844600-194860000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:194844800-194859800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:194845600-194858000	Weak transcription	Fetal Intestine Small	intestine
12	chr3:194845600-194861200	Weak transcription	Ovary	ovary
13	chr3:194846200-194862400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:194846600-194868400	Weak transcription	HepG2	liver
15	chr3:194847200-194868200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:194847600-194857800	Weak transcription	Spleen	Spleen
17	chr3:194847600-194858200	Weak transcription	Adipose Nuclei	Adipose
18	chr3:194847800-194856200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:194849200-194861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:194849400-194856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:194849400-194857000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:194849400-194858200	Weak transcription	Lung	lung
23	chr3:194849600-194855000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:194849600-194856200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:194850400-194854800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:194850600-194859000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:194850800-194860400	Weak transcription	HUVEC	blood vessel
28	chr3:194850800-194860600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:194851000-194856000	Enhancers	Fetal Muscle Leg	muscle
30	chr3:194851200-194856000	Weak transcription	K562	blood
31	chr3:194851600-194859800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:194851800-194860400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:194852000-194854800	Enhancers	NHEK	skin
34	chr3:194852000-194858000	Weak transcription	Placenta	Placenta
35	chr3:194852200-194856600	Weak transcription	Fetal Kidney	kidney
36	chr3:194852400-194868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:194852600-194855800	Enhancers	Fetal Stomach	stomach
38	chr3:194853000-194854800	Enhancers	Rectal Smooth Muscle	rectum
39	chr3:194853000-194858000	Weak transcription	Fetal Thymus	thymus
40	chr3:194853000-194859600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:194853200-194855000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr3:194853400-194855200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:194853600-194854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:194853600-194854800	Enhancers	NHLF	lung
45	chr3:194853600-194855200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:194853800-194854800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:194853800-194854800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:194853800-194854800	Enhancers	Colon Smooth Muscle	Colon
49	chr3:194853800-194854800	Enhancers	NH-A	brain
50	chr3:194853800-194855600	Enhancers	Fetal Muscle Trunk	muscle

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