Variant report

Variant	rs58054723
Chromosome Location	chr1:61840949-61840950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61839086..61841387-chr1:61851332..61853518,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10489910	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17265650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17265671	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2364479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4397679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666653	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666658	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72666659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666660	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72666663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72666667	0.92[EUR][1000 genomes]
rs74086944	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7533561	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7545732	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong 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	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61804400-61851400	Weak transcription	Small Intestine	intestine
2	chr1:61804400-61854600	Weak transcription	Placenta	Placenta
3	chr1:61805800-61848800	Weak transcription	Pancreas	Pancrea
4	chr1:61814000-61848800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:61814600-61841200	Weak transcription	Psoas Muscle	Psoas
6	chr1:61814600-61848800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:61819000-61848800	Weak transcription	Lung	lung
8	chr1:61820600-61848800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:61823400-61854800	Weak transcription	Spleen	Spleen
10	chr1:61825000-61841200	Weak transcription	Right Ventricle	heart
11	chr1:61825000-61843000	Weak transcription	K562	blood
12	chr1:61825200-61847200	Weak transcription	A549	lung
13	chr1:61825200-61848600	Weak transcription	Hela-S3	cervix
14	chr1:61825200-61849000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:61825200-61849000	Weak transcription	Ovary	ovary
16	chr1:61825600-61848800	Weak transcription	Gastric	stomach
17	chr1:61826200-61851600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:61826400-61848800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:61827000-61841200	Weak transcription	Left Ventricle	heart
20	chr1:61827000-61848600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:61827000-61849000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:61828200-61848800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:61828200-61854600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:61828600-61841200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:61828600-61848800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:61828800-61841200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:61833000-61842000	Strong transcription	Liver	Liver
28	chr1:61833200-61841200	Weak transcription	Brain Substantia Nigra	brain
29	chr1:61833400-61848800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:61833400-61849000	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:61834400-61849000	Weak transcription	Brain Anterior Caudate	brain
32	chr1:61834800-61852000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:61835000-61843600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:61836600-61843600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:61836600-61848800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:61836800-61843600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:61836800-61848600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:61836800-61848800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:61836800-61852200	Weak transcription	Esophagus	oesophagus
40	chr1:61837400-61848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:61837600-61841400	Enhancers	Fetal Brain Male	brain
42	chr1:61838600-61845000	Weak transcription	HepG2	liver
43	chr1:61838600-61847200	Weak transcription	HUVEC	blood vessel
44	chr1:61838800-61849000	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:61839600-61854400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:61840000-61841800	Enhancers	Fetal Brain Female	brain
47	chr1:61840200-61841200	Weak transcription	Fetal Stomach	stomach
48	chr1:61840600-61841600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:61840600-61841600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:61840600-61841600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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