Variant report

Variant	rs2806435
Chromosome Location	chr1:61772514-61772515
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1041674	0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs1125777	0.81[JPT][hapmap]
rs2024789	0.86[JPT][hapmap]
rs2243860	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs2782540	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2782543	0.84[ASN][1000 genomes]
rs2806437	0.85[ASN][1000 genomes]
rs2806442	0.86[JPT][hapmap]
rs41350144	0.81[JPT][hapmap]
rs6691768	0.81[JPT][hapmap]
rs7521242	0.81[JPT][hapmap]
rs7556462	0.81[JPT][hapmap]

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:44 , 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	chr1:61765400-61774800	Weak transcription	K562	blood
7	chr1:61765400-61779200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:61765400-61779400	Weak transcription	HUVEC	blood vessel
9	chr1:61765400-61784000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:61765600-61777600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:61767800-61773000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:61767800-61779000	Weak transcription	Pancreas	Pancrea
13	chr1:61767800-61782200	Weak transcription	Lung	lung
14	chr1:61767800-61783800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:61767800-61784000	Weak transcription	Liver	Liver
16	chr1:61768000-61778800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:61768000-61782000	Weak transcription	Ovary	ovary
18	chr1:61768000-61783600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:61768000-61783800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:61768000-61783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:61768000-61784400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:61768200-61776000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:61768200-61781000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:61768400-61778800	Weak transcription	Fetal Lung	lung
25	chr1:61768400-61780800	Weak transcription	Fetal Heart	heart
26	chr1:61768400-61781600	Weak transcription	Fetal Stomach	stomach
27	chr1:61768600-61782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:61768800-61782000	Weak transcription	Adipose Nuclei	Adipose
29	chr1:61768800-61784400	Weak transcription	A549	lung
30	chr1:61769200-61782000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:61769400-61779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:61769400-61783600	Weak transcription	NHEK	skin
33	chr1:61769400-61784000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:61769800-61776000	Weak transcription	Left Ventricle	heart
35	chr1:61771200-61775800	Weak transcription	Aorta	Aorta
36	chr1:61772200-61772600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:61772200-61773600	Strong transcription	HepG2	liver
38	chr1:61772400-61772600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:61772400-61772600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:61772400-61772600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:61772400-61772600	Enhancers	Right Atrium	heart
42	chr1:61772400-61773200	Enhancers	Psoas Muscle	Psoas
43	chr1:61772400-61773400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:61772400-61774400	Enhancers	Right Ventricle	heart

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