Variant report

Variant	rs2806433
Chromosome Location	chr1:61769325-61769326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2243874	0.95[EUR][1000 genomes]
rs2806427	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2806428	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2806430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2806431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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:47 , 50 per page) page: 1

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	chr1:61759600-61775800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:61760800-61780800	Weak transcription	Fetal Brain Male	brain
5	chr1:61760800-61783800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:61762600-61771800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:61762600-61772200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:61765400-61774800	Weak transcription	K562	blood
9	chr1:61765400-61779200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:61765400-61779400	Weak transcription	HUVEC	blood vessel
11	chr1:61765400-61784000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:61765600-61777600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:61766800-61769400	Enhancers	NHEK	skin
14	chr1:61767400-61769400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:61767400-61769400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:61767600-61769400	Enhancers	HMEC	breast
17	chr1:61767800-61770800	Weak transcription	Aorta	Aorta
18	chr1:61767800-61772400	Weak transcription	Psoas Muscle	Psoas
19	chr1:61767800-61772400	Weak transcription	Right Ventricle	heart
20	chr1:61767800-61773000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:61767800-61779000	Weak transcription	Pancreas	Pancrea
22	chr1:61767800-61782200	Weak transcription	Lung	lung
23	chr1:61767800-61783800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:61767800-61784000	Weak transcription	Liver	Liver
25	chr1:61768000-61770600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:61768000-61771200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:61768000-61772400	Weak transcription	Right Atrium	heart
28	chr1:61768000-61778800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:61768000-61782000	Weak transcription	Ovary	ovary
30	chr1:61768000-61783600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:61768000-61783800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:61768000-61783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:61768000-61784400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:61768200-61776000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:61768200-61781000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:61768400-61769400	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:61768400-61772200	Weak transcription	HepG2	liver
38	chr1:61768400-61778800	Weak transcription	Fetal Lung	lung
39	chr1:61768400-61780800	Weak transcription	Fetal Heart	heart
40	chr1:61768400-61781600	Weak transcription	Fetal Stomach	stomach
41	chr1:61768600-61769400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:61768600-61772400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:61768600-61782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:61768800-61782000	Weak transcription	Adipose Nuclei	Adipose
45	chr1:61768800-61784400	Weak transcription	A549	lung
46	chr1:61769200-61769800	Enhancers	Left Ventricle	heart
47	chr1:61769200-61782000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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