Variant report

Variant	rs2806440
Chromosome Location	chr1:61786398-61786399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:61784481..61786407-chr1:61788060..61789976,3	K562	blood:

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

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

rs_ID	r²[population]
rs11207730	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs12022282	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12036069	0.84[EUR][1000 genomes]
rs12036079	0.84[EUR][1000 genomes]
rs2782541	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782544	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806436	0.86[CEU][hapmap]
rs2806438	0.83[EUR][1000 genomes]
rs2806441	0.93[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61770523	0.86[EUR][1000 genomes]
rs6587915	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs766489	0.87[EUR][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:62 , 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	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:61782200-61788600	Weak transcription	Fetal Brain Female	brain
4	chr1:61784000-61786400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:61784000-61786400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:61784000-61786600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:61784000-61786600	Enhancers	Brain Anterior Caudate	brain
8	chr1:61784000-61786600	Enhancers	Brain Hippocampus Middle	brain
9	chr1:61784000-61786600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:61784000-61786600	Enhancers	Fetal Stomach	stomach
11	chr1:61784000-61787200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:61784000-61790000	Enhancers	Liver	Liver
13	chr1:61784200-61786600	Enhancers	HepG2	liver
14	chr1:61784200-61786600	Enhancers	K562	blood
15	chr1:61784200-61787000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:61784600-61786600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:61784600-61786600	Enhancers	Adipose Nuclei	Adipose
18	chr1:61784600-61786600	Enhancers	Right Atrium	heart
19	chr1:61784600-61786600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:61784600-61787800	Enhancers	NHEK	skin
21	chr1:61784600-61789600	Weak transcription	Right Ventricle	heart
22	chr1:61784800-61786600	Enhancers	Fetal Heart	heart
23	chr1:61784800-61787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:61784800-61787200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:61784800-61787800	Weak transcription	A549	lung
26	chr1:61784800-61788000	Weak transcription	Esophagus	oesophagus
27	chr1:61784800-61788000	Weak transcription	Gastric	stomach
28	chr1:61784800-61788000	Weak transcription	Pancreas	Pancrea
29	chr1:61784800-61789600	Weak transcription	Aorta	Aorta
30	chr1:61784800-61789600	Weak transcription	Psoas Muscle	Psoas
31	chr1:61784800-61791400	Enhancers	Fetal Lung	lung
32	chr1:61784800-61799400	Weak transcription	Left Ventricle	heart
33	chr1:61784800-61800400	Weak transcription	Ovary	ovary
34	chr1:61784800-61802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:61784800-61803200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:61784800-61803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:61785000-61786600	Enhancers	Colon Smooth Muscle	Colon
38	chr1:61785000-61787200	Weak transcription	HMEC	breast
39	chr1:61785000-61797200	Weak transcription	HUVEC	blood vessel
40	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:61785200-61787800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:61785200-61788000	Weak transcription	Hela-S3	cervix
44	chr1:61785400-61786400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:61785400-61786400	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:61785400-61786600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:61785400-61786600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:61785400-61786600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:61785400-61787000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:61785400-61787200	Enhancers	HUES64 Cell Line	embryonic stem cell

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