Variant report

Variant	rs10204567
Chromosome Location	chr2:20774640-20774641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20756784..20758920-chr2:20774602..20776953,2	K562	blood:
2	chr2:20772999..20776929-chr2:20778925..20783592,5	MCF-7	breast:
3	chr2:20771832..20774645-chr2:20774771..20777739,3	K562	blood:
4	chr2:20772318..20774948-chr2:20792924..20794926,2	K562	blood:
5	chr2:20773082..20775032-chr2:20787909..20789864,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10153731	1.00[AMR][1000 genomes]
rs10190590	1.00[AMR][1000 genomes]
rs10190705	0.90[AFR][1000 genomes]
rs10195324	0.90[AFR][1000 genomes]
rs10199240	0.82[AFR][1000 genomes]
rs10200207	0.92[AFR][1000 genomes]
rs10204809	1.00[AMR][1000 genomes]
rs11691255	0.90[AFR][1000 genomes]
rs12328527	1.00[AMR][1000 genomes]
rs13406282	1.00[AMR][1000 genomes]
rs13418218	1.00[AMR][1000 genomes]
rs13422371	0.90[AFR][1000 genomes]
rs16987861	1.00[AMR][1000 genomes]
rs28666627	1.00[AMR][1000 genomes]
rs9808086	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20764400-20778200	Enhancers	HepG2	liver
2	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
3	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
4	chr2:20766400-20776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
7	chr2:20767000-20781000	Enhancers	Right Atrium	heart
8	chr2:20767200-20776600	Enhancers	Right Ventricle	heart
9	chr2:20767400-20778200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:20767800-20778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:20768400-20774800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:20768600-20777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:20769200-20777000	Weak transcription	HMEC	breast
15	chr2:20769400-20780000	Enhancers	Fetal Intestine Large	intestine
16	chr2:20769800-20781000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:20771400-20774800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:20771400-20775000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:20771600-20777200	Weak transcription	Psoas Muscle	Psoas
20	chr2:20771600-20777400	Weak transcription	Small Intestine	intestine
21	chr2:20771800-20775000	Enhancers	NH-A	brain
22	chr2:20772200-20775200	Weak transcription	GM12878-XiMat	blood
23	chr2:20772600-20781000	Enhancers	Placenta	Placenta
24	chr2:20772600-20785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:20772800-20774800	Enhancers	Brain Anterior Caudate	brain
26	chr2:20772800-20775400	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:20772800-20775400	Enhancers	Brain Hippocampus Middle	brain
28	chr2:20772800-20775400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:20772800-20779400	Weak transcription	Liver	Liver
30	chr2:20772800-20780800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:20773000-20775000	Enhancers	Ovary	ovary
32	chr2:20773000-20775200	Enhancers	Brain Substantia Nigra	brain
33	chr2:20773000-20777800	Weak transcription	Pancreas	Pancrea
34	chr2:20773000-20781000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:20773200-20774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:20773200-20774800	Enhancers	Brain Angular Gyrus	brain
37	chr2:20773200-20774800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:20773200-20775000	Enhancers	Fetal Brain Male	brain
39	chr2:20773200-20775600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:20773400-20775000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:20773400-20775400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:20773400-20775400	Enhancers	Brain Germinal Matrix	brain
43	chr2:20773400-20775400	Enhancers	Colon Smooth Muscle	Colon
44	chr2:20773400-20775600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:20773400-20781200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:20773600-20776000	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:20773600-20780000	Enhancers	Spleen	Spleen
48	chr2:20773600-20780200	Enhancers	Fetal Heart	heart
49	chr2:20773600-20781000	Enhancers	Lung	lung
50	chr2:20773800-20774800	Enhancers	K562	blood

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