Variant report

Variant	rs2782543
Chromosome Location	chr1:61781905-61781906
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61777609..61779531-chr1:61779675..61784488,4	K562	blood:
2	chr1:61733972..61736610-chr1:61780635..61784681,3	K562	blood:
3	chr1:61540510..61542134-chr1:61780390..61782426,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1041674	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2782540	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2806435	0.84[ASN][1000 genomes]
rs2806437	0.91[ASN][1000 genomes]
rs2806442	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6670529	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6691768	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61755600-61784000	Weak transcription	Esophagus	oesophagus
3	chr1:61760800-61783800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:61765400-61784000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:61767800-61782200	Weak transcription	Lung	lung
6	chr1:61767800-61783800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:61767800-61784000	Weak transcription	Liver	Liver
8	chr1:61768000-61782000	Weak transcription	Ovary	ovary
9	chr1:61768000-61783600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:61768000-61783800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:61768000-61783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:61768000-61784400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:61768600-61782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:61768800-61782000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:61768800-61784400	Weak transcription	A549	lung
16	chr1:61769200-61782000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:61769400-61783600	Weak transcription	NHEK	skin
18	chr1:61769400-61784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:61773400-61783400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:61774200-61783400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:61776000-61784600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:61776200-61782000	Weak transcription	Right Ventricle	heart
23	chr1:61776400-61782000	Weak transcription	K562	blood
24	chr1:61776400-61784000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:61776600-61784000	Weak transcription	Aorta	Aorta
26	chr1:61777800-61784000	Weak transcription	Gastric	stomach
27	chr1:61778000-61782000	Weak transcription	Right Atrium	heart
28	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:61778800-61782000	Weak transcription	Spleen	Spleen
30	chr1:61779000-61784600	Weak transcription	Fetal Intestine Large	intestine
31	chr1:61779200-61783800	Weak transcription	Fetal Lung	lung
32	chr1:61779200-61785200	Weak transcription	Fetal Intestine Small	intestine
33	chr1:61779800-61783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:61779800-61783800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:61779800-61784200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:61780000-61783600	Weak transcription	HUVEC	blood vessel
37	chr1:61780000-61784000	Weak transcription	Pancreas	Pancrea
38	chr1:61780000-61784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:61780000-61784400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:61780000-61784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:61780200-61784200	Weak transcription	HepG2	liver
42	chr1:61780600-61784000	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:61780800-61782200	Enhancers	Brain Hippocampus Middle	brain
44	chr1:61780800-61782400	Enhancers	Brain Anterior Caudate	brain
45	chr1:61780800-61782800	Enhancers	Fetal Heart	heart
46	chr1:61781000-61782000	Enhancers	Brain Substantia Nigra	brain
47	chr1:61781000-61782400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:61781200-61783600	Weak transcription	Fetal Brain Male	brain
49	chr1:61781400-61782400	Enhancers	Brain Angular Gyrus	brain
50	chr1:61781600-61782200	Enhancers	Fetal Brain Female	brain

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