Variant report

Variant	rs58307611
Chromosome Location	chr1:184426489-184426490
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	chr1:184424018..184426734-chr1:184430772..184432362,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10494579	1.00[EUR][1000 genomes]
rs10911542	1.00[EUR][1000 genomes]
rs10911543	1.00[EUR][1000 genomes]
rs1111087	1.00[EUR][1000 genomes]
rs12066684	1.00[EUR][1000 genomes]
rs12072264	1.00[EUR][1000 genomes]
rs12076686	1.00[EUR][1000 genomes]
rs12076687	1.00[EUR][1000 genomes]
rs12095050	1.00[EUR][1000 genomes]
rs13328702	1.00[EUR][1000 genomes]
rs13375618	1.00[EUR][1000 genomes]
rs16822757	1.00[EUR][1000 genomes]
rs16822764	1.00[EUR][1000 genomes]
rs16822766	1.00[EUR][1000 genomes]
rs16822783	1.00[EUR][1000 genomes]
rs16822793	1.00[EUR][1000 genomes]
rs16823189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823192	1.00[EUR][1000 genomes]
rs16823216	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1930289	1.00[EUR][1000 genomes]
rs2224030	1.00[EUR][1000 genomes]
rs4354502	1.00[EUR][1000 genomes]
rs4543760	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56797986	1.00[EUR][1000 genomes]
rs59737381	1.00[EUR][1000 genomes]
rs59949779	1.00[EUR][1000 genomes]
rs60807093	1.00[EUR][1000 genomes]
rs6667688	1.00[EUR][1000 genomes]
rs6668105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669875	1.00[EUR][1000 genomes]
rs6670740	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73059524	1.00[EUR][1000 genomes]
rs73059529	1.00[EUR][1000 genomes]
rs73059544	1.00[EUR][1000 genomes]
rs73063511	1.00[EUR][1000 genomes]
rs73063520	1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs74131644	1.00[EUR][1000 genomes]
rs74131649	1.00[EUR][1000 genomes]
rs74131651	1.00[EUR][1000 genomes]
rs74131665	1.00[EUR][1000 genomes]
rs74131666	1.00[EUR][1000 genomes]
rs74131668	1.00[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
2	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:184419600-184426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:184419600-184426600	Weak transcription	Right Atrium	heart
9	chr1:184419600-184426800	Weak transcription	NHEK	skin
10	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
12	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:184419800-184426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:184421400-184427400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:184421400-184433000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:184421800-184426800	Weak transcription	Pancreas	Pancrea
17	chr1:184422000-184427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:184422400-184426600	Weak transcription	Esophagus	oesophagus
19	chr1:184422600-184426600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:184422600-184426800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:184423000-184428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:184423000-184431200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:184423200-184426800	Weak transcription	Stomach Mucosa	stomach
24	chr1:184423200-184427400	Enhancers	Psoas Muscle	Psoas
25	chr1:184423800-184426600	Weak transcription	Fetal Stomach	stomach
26	chr1:184423800-184426800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:184424000-184426600	Weak transcription	Left Ventricle	heart
28	chr1:184424000-184426600	Weak transcription	Lung	lung
29	chr1:184424000-184430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:184424000-184436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:184424400-184428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:184424400-184428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:184424400-184429000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:184424400-184430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:184424800-184426800	Weak transcription	Small Intestine	intestine
36	chr1:184424800-184428600	Enhancers	Fetal Heart	heart
37	chr1:184424800-184429200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:184425400-184426800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:184425400-184428800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:184425400-184442200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:184425600-184427200	Enhancers	Fetal Brain Male	brain
42	chr1:184425600-184428800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:184425600-184430000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:184425600-184430000	Weak transcription	Ovary	ovary
45	chr1:184425600-184430000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:184425800-184426800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:184425800-184426800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:184425800-184430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:184426000-184427000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:184426000-184430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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