Variant report

Variant	rs73044571
Chromosome Location	chr1:180827659-180827660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10914102	1.00[EUR][1000 genomes]
rs57893270	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58078052	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58688129	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58917243	0.83[AMR][1000 genomes]
rs59921476	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60823702	0.83[AMR][1000 genomes]
rs61058506	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6425651	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6425654	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6659262	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6688066	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6688797	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6692456	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6704318	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73034834	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73034843	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73034849	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73034858	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73034861	0.83[AMR][1000 genomes]
rs73034880	0.83[AMR][1000 genomes]
rs73034891	0.85[AFR][1000 genomes]
rs73034895	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73036503	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73036511	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73036513	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73040964	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73040979	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73042709	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73044553	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73044557	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73044560	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73045791	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73049473	0.83[AMR][1000 genomes]
rs73049479	0.83[AMR][1000 genomes]
rs73049494	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73049495	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73049502	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73051223	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73051232	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73051247	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73051258	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7513630	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7523694	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7528848	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7528955	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:180775000-180831600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:180779800-180850800	Weak transcription	Small Intestine	intestine
5	chr1:180796400-180851000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:180796800-180831600	Weak transcription	A549	lung
7	chr1:180802600-180833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:180802600-180834600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:180803600-180843200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:180804800-180842800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:180805000-180829600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:180805800-180835000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
14	chr1:180807200-180832800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:180812200-180831400	Weak transcription	Fetal Lung	lung
16	chr1:180812200-180867000	Weak transcription	Ovary	ovary
17	chr1:180812400-180830800	Weak transcription	Fetal Brain Female	brain
18	chr1:180812600-180835000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:180818600-180833200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:180819200-180851000	Weak transcription	Fetal Brain Male	brain
21	chr1:180821200-180842200	Weak transcription	Primary B cells from cord blood	blood
22	chr1:180822000-180833800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:180822000-180842200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:180822000-180862800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:180822400-180833000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:180822800-180862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:180823000-180854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:180823200-180832800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:180823200-180832800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:180823400-180828200	Weak transcription	Brain Germinal Matrix	brain
31	chr1:180823400-180843000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:180823600-180831400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:180823600-180833200	Weak transcription	Dnd41	blood
34	chr1:180823600-180835000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:180823600-180847800	Weak transcription	Primary T cells from cord blood	blood
36	chr1:180823600-180860000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:180823800-180832200	Weak transcription	Fetal Stomach	stomach
38	chr1:180823800-180833200	Weak transcription	Adipose Nuclei	Adipose
39	chr1:180823800-180833400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:180823800-180851000	Weak transcription	Fetal Kidney	kidney
41	chr1:180823800-180851400	Weak transcription	Pancreas	Pancrea
42	chr1:180823800-180862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:180824000-180830400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:180824000-180832200	Weak transcription	Fetal Heart	heart
45	chr1:180824000-180832200	Weak transcription	NH-A	brain
46	chr1:180824000-180833000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:180824000-180835000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:180824000-180848000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:180824000-180867600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart

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