Variant report

Variant	rs3767633
Chromosome Location	chr1:161826615-161826616
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161826549..161828276-chr1:161829766..161831936,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10733044	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10737502	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753645	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753666	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10800068	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1394070	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553444	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806594	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2055539	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134690	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2134696	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298019	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341468	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2341479	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2499855	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2499856	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2880055	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34312480	0.94[ASN][1000 genomes]
rs34461550	0.97[ASN][1000 genomes]
rs35621393	1.00[ASN][1000 genomes]
rs36080602	0.94[ASN][1000 genomes]
rs4233380	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4300199	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4579731	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656335	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656339	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657103	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6427633	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6427639	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6667896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685369	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6698065	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6701754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs71639910	0.92[ASN][1000 genomes]
rs7517386	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7532448	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs924777	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1014340	chr1:161822791-161852384	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
IgG glycosylation	23382691	GWAS catalog

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:161792200-161838000	Weak transcription	Fetal Brain Male	brain
6	chr1:161795200-161860200	Weak transcription	Lung	lung
7	chr1:161795800-161827600	Weak transcription	Gastric	stomach
8	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
9	chr1:161805800-161838200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
13	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
14	chr1:161809200-161827000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:161809400-161838000	Weak transcription	HMEC	breast
16	chr1:161810200-161829000	Weak transcription	Stomach Mucosa	stomach
17	chr1:161810600-161835800	Weak transcription	Colonic Mucosa	Colon
18	chr1:161811400-161838400	Strong transcription	Primary B cells from cord blood	blood
19	chr1:161811800-161838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:161813000-161834200	Weak transcription	Esophagus	oesophagus
21	chr1:161815200-161834600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:161816400-161829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:161818800-161827000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:161819000-161828000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:161819800-161826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:161819800-161852600	Weak transcription	NHDF-Ad	bronchial
27	chr1:161820000-161833000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:161820600-161832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:161820600-161849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:161822000-161828400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:161822000-161836000	Weak transcription	HepG2	liver
32	chr1:161822800-161836200	Weak transcription	Aorta	Aorta
33	chr1:161823400-161833000	Weak transcription	Fetal Stomach	stomach
34	chr1:161823400-161833200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:161823600-161839200	Weak transcription	Brain Anterior Caudate	brain
36	chr1:161823600-161842200	Weak transcription	Osteobl	bone
37	chr1:161823600-161858800	Weak transcription	Thymus	Thymus
38	chr1:161823800-161827600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:161823800-161833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:161823800-161833400	Weak transcription	NHLF	lung
41	chr1:161823800-161857000	Weak transcription	Ovary	ovary
42	chr1:161824000-161829600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:161824000-161830200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:161824000-161830800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:161824000-161831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:161824000-161835800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:161824000-161836000	Weak transcription	Fetal Kidney	kidney
48	chr1:161824000-161838200	Weak transcription	HSMMtube	muscle
49	chr1:161824000-161840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:161824000-161842400	Weak transcription	Muscle Satellite Cultured Cells	--

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