Variant report

Variant	rs73046213
Chromosome Location	chr2:183827337-183827338
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183826876..183828751-chr2:183831035..183834010,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11885629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885833	1.00[EUR][1000 genomes]
rs11888086	1.00[EUR][1000 genomes]
rs11892717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896088	1.00[EUR][1000 genomes]
rs16823829	1.00[EUR][1000 genomes]
rs16823945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823949	1.00[EUR][1000 genomes]
rs16823966	1.00[EUR][1000 genomes]
rs16823968	0.93[AFR][1000 genomes]
rs2102770	0.93[AFR][1000 genomes]
rs4358084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803212	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886059	1.00[EUR][1000 genomes]
rs56179717	1.00[EUR][1000 genomes]
rs56219690	0.86[AFR][1000 genomes]
rs56344408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362542	1.00[EUR][1000 genomes]
rs57047150	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58515193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59253255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59308931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60558126	1.00[EUR][1000 genomes]
rs60602756	1.00[EUR][1000 genomes]
rs60705462	0.89[AFR][1000 genomes]
rs6733333	1.00[EUR][1000 genomes]
rs6736252	1.00[EUR][1000 genomes]
rs6757286	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73035662	0.89[AFR][1000 genomes]
rs73037284	1.00[EUR][1000 genomes]
rs73040079	1.00[EUR][1000 genomes]
rs73040083	1.00[EUR][1000 genomes]
rs73040085	1.00[EUR][1000 genomes]
rs73040088	1.00[EUR][1000 genomes]
rs73042107	1.00[EUR][1000 genomes]
rs73042129	1.00[EUR][1000 genomes]
rs73042136	1.00[EUR][1000 genomes]
rs73042149	1.00[EUR][1000 genomes]
rs73042166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046217	1.00[EUR][1000 genomes]
rs73046218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046226	1.00[EUR][1000 genomes]
rs73046232	1.00[EUR][1000 genomes]
rs73046235	1.00[EUR][1000 genomes]
rs73046257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046260	1.00[EUR][1000 genomes]
rs73048203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980523	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7558834	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561870	1.00[EUR][1000 genomes]
rs7584932	1.00[EUR][1000 genomes]
rs7601416	1.00[EUR][1000 genomes]
rs7602182	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3693446	chr2:183785598-183833514	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
4	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
5	chr2:183788000-183830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:183788200-183845600	Weak transcription	Lung	lung
7	chr2:183789200-183836400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:183793400-183840800	Weak transcription	Fetal Brain Male	brain
9	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:183812000-183839000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:183812200-183832800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:183812200-183833000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:183812200-183838200	Weak transcription	Small Intestine	intestine
18	chr2:183812200-183842000	Weak transcription	Right Ventricle	heart
19	chr2:183812200-183874800	Weak transcription	Gastric	stomach
20	chr2:183812400-183831200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:183812400-183856800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
23	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:183814800-183845600	Weak transcription	Ovary	ovary
25	chr2:183815000-183833200	Weak transcription	Fetal Heart	heart
26	chr2:183815800-183832800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:183816000-183832800	Weak transcription	Psoas Muscle	Psoas
28	chr2:183816400-183829800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:183816400-183829800	Weak transcription	Fetal Stomach	stomach
30	chr2:183818600-183860400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:183819000-183830600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:183820000-183833000	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:183820000-183838600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:183820000-183850800	Weak transcription	Brain Angular Gyrus	brain
35	chr2:183820400-183833200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:183821600-183841200	Weak transcription	Hela-S3	cervix
37	chr2:183821800-183833000	Weak transcription	Fetal Brain Female	brain
38	chr2:183822400-183841800	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:183822600-183837200	Weak transcription	Fetal Kidney	kidney
40	chr2:183823600-183830600	Weak transcription	Adipose Nuclei	Adipose
41	chr2:183824200-183832600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:183824200-183839400	Weak transcription	HSMMtube	muscle
43	chr2:183825400-183834800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:183825600-183834000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:183825600-183834000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:183825600-183835400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:183826200-183827600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:183826200-183827600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:183826200-183829800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:183826200-183833800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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