Variant report

Variant	rs1503811
Chromosome Location	chr1:161700485-161700486
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10799932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10917810	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585450	0.90[AMR][1000 genomes]
rs12136661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139524	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1847382	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1875763	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6686408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6686535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1503811	FCRLA	cis	multi-tissue	Pritchard
rs1503811	FCRLA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161697600-161700800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:161697600-161700800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr1:161697600-161700800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:161697800-161700600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:161697800-161700600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:161697800-161700800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:161697800-161700800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:161697800-161700800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:161697800-161700800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:161697800-161706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:161698000-161700600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:161698000-161702600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:161698000-161703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:161698000-161703400	Enhancers	K562	blood
15	chr1:161698000-161706000	Enhancers	NHEK	skin
16	chr1:161698000-161707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:161698400-161700600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:161698400-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:161698600-161700800	Enhancers	NHDF-Ad	bronchial
20	chr1:161698600-161705600	Weak transcription	A549	lung
21	chr1:161698800-161702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:161699200-161704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:161699200-161707400	Enhancers	HMEC	breast
24	chr1:161699400-161700800	Enhancers	HUVEC	blood vessel
25	chr1:161699600-161700600	Enhancers	HSMM	muscle
26	chr1:161699600-161700800	Enhancers	Hela-S3	cervix
27	chr1:161699800-161700800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:161700000-161700600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:161700000-161700600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr1:161700000-161700600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:161700000-161700600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:161700000-161700600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr1:161700000-161700600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:161700000-161700600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:161700000-161700600	Enhancers	NHLF	lung
36	chr1:161700000-161700800	Enhancers	Osteobl	bone
37	chr1:161700000-161701400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:161700000-161701800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:161700000-161702200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:161700200-161700600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:161700200-161700600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:161700200-161700600	Flanking Active TSS	NH-A	brain
43	chr1:161700200-161700800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:161700200-161707800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:161700200-161708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:161700400-161700600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr1:161700400-161700800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:161700400-161700800	Enhancers	GM12878-XiMat	blood
49	chr1:161700400-161701000	Enhancers	H9 Cell Line	embryonic stem cell

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