Variant report

Variant	rs2806437
Chromosome Location	chr1:61775563-61775564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1041674	0.90[ASN][1000 genomes]
rs2782540	0.98[ASN][1000 genomes]
rs2782543	0.91[ASN][1000 genomes]
rs2806435	0.85[ASN][1000 genomes]
rs2806442	0.85[ASN][1000 genomes]
rs6670529	0.81[ASN][1000 genomes]
rs6691768	0.87[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:43 , 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	chr1:61765400-61779200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:61765400-61779400	Weak transcription	HUVEC	blood vessel
8	chr1:61765400-61784000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:61765600-61777600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:61767800-61779000	Weak transcription	Pancreas	Pancrea
11	chr1:61767800-61782200	Weak transcription	Lung	lung
12	chr1:61767800-61783800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:61767800-61784000	Weak transcription	Liver	Liver
14	chr1:61768000-61778800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:61768000-61782000	Weak transcription	Ovary	ovary
16	chr1:61768000-61783600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:61768000-61783800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:61768000-61783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:61768000-61784400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:61768200-61776000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:61768200-61781000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:61768400-61778800	Weak transcription	Fetal Lung	lung
23	chr1:61768400-61780800	Weak transcription	Fetal Heart	heart
24	chr1:61768400-61781600	Weak transcription	Fetal Stomach	stomach
25	chr1:61768600-61782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:61768800-61782000	Weak transcription	Adipose Nuclei	Adipose
27	chr1:61768800-61784400	Weak transcription	A549	lung
28	chr1:61769200-61782000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:61769400-61779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:61769400-61783600	Weak transcription	NHEK	skin
31	chr1:61769400-61784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:61769800-61776000	Weak transcription	Left Ventricle	heart
33	chr1:61771200-61775800	Weak transcription	Aorta	Aorta
34	chr1:61773200-61776000	Weak transcription	Right Atrium	heart
35	chr1:61773200-61781600	Weak transcription	Psoas Muscle	Psoas
36	chr1:61773400-61783400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:61773600-61775800	Weak transcription	HepG2	liver
38	chr1:61774000-61776000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:61774000-61779000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:61774200-61783400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:61774400-61776000	Weak transcription	Right Ventricle	heart
42	chr1:61774800-61778800	Weak transcription	Fetal Intestine Large	intestine
43	chr1:61775400-61776400	Enhancers	K562	blood

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