Variant report

Variant	rs2275876
Chromosome Location	chr1:223900614-223900615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223900203..223902153-chr1:223927273..223928993,2	K562	blood:
2	chr1:223900140..223900711-chr19:13263508..13264391,2	Hela-S3	cervix:
3	chr1:223899719..223901460-chr1:224517221..224519970,2	K562	blood:
4	chr1:223898558..223902080-chr1:223957242..223958839,3	K562	blood:
5	chr1:223900571..223903093-chr1:223940555..223942413,2	K562	blood:
6	chr1:223900402..223903093-chr1:223939885..223943104,3	K562	blood:
7	chr1:223900439..223903816-chr1:223918326..223920507,3	MCF-7	breast:
8	chr1:223900176..223902216-chr1:223970691..223973184,2	MCF-7	breast:
9	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
10	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
11	chr1:223899719..223902673-chr1:224516675..224518721,2	K562	blood:
12	chr1:223898558..223902031-chr1:223957339..223960421,3	K562	blood:
13	chr1:223900092..223902158-chr1:223929992..223931627,2	K562	blood:
14	chr1:223897059..223902247-chr1:223935403..223939761,6	K562	blood:
15	chr1:223900420..223902460-chr1:224007560..224009954,2	K562	blood:
16	chr1:223900203..223901722-chr1:223926667..223928773,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction
ENSG00000162909	Chromatin interaction
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12022818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12030020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12032206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2230083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3738377	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3344542	chr1:223899354-223901902	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223899400-223901400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:223899600-223901000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr1:223899600-223901000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:223899600-223901000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:223899600-223901000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:223899600-223901000	Active TSS	Brain Anterior Caudate	brain
7	chr1:223899600-223901000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr1:223899600-223901000	Active TSS	Colon Smooth Muscle	Colon
9	chr1:223899600-223901000	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:223899600-223901200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:223899600-223901200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:223899600-223901200	Active TSS	Brain Germinal Matrix	brain
13	chr1:223899600-223901400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:223899600-223901800	Active TSS	Gastric	stomach
15	chr1:223899600-223901800	Active TSS	HSMMtube	muscle
16	chr1:223899800-223900800	Active TSS	Primary T cells from cord blood	blood
17	chr1:223899800-223900800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:223899800-223900800	Active TSS	Fetal Brain Female	brain
19	chr1:223899800-223900800	Weak transcription	Fetal Heart	heart
20	chr1:223899800-223901000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:223899800-223901000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
22	chr1:223899800-223901000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:223899800-223901000	Active TSS	Brain Cingulate Gyrus	brain
24	chr1:223899800-223901000	Active TSS	Brain Hippocampus Middle	brain
25	chr1:223899800-223901200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:223899800-223901200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:223899800-223901200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:223899800-223901200	Bivalent/Poised TSS	Fetal Thymus	thymus
29	chr1:223899800-223901200	Active TSS	Ovary	ovary
30	chr1:223899800-223901200	Active TSS	Pancreas	Pancrea
31	chr1:223899800-223901200	Bivalent/Poised TSS	Thymus	Thymus
32	chr1:223899800-223901400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:223899800-223901400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:223899800-223901400	Active TSS	Left Ventricle	heart
35	chr1:223899800-223901400	Active TSS	Psoas Muscle	Psoas
36	chr1:223899800-223901400	Bivalent/Poised TSS	HepG2	liver
37	chr1:223899800-223901600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:223899800-223901600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:223899800-223901600	Active TSS	Fetal Kidney	kidney
40	chr1:223899800-223901800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:223899800-223901800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:223899800-223901800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:223899800-223901800	Active TSS	Aorta	Aorta
44	chr1:223899800-223902000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:223899800-223902000	Active TSS	Esophagus	oesophagus
46	chr1:223900000-223900800	Active TSS	Primary B cells from peripheral blood	blood
47	chr1:223900000-223900800	Active TSS	Primary T cells fromperipheralblood	blood
48	chr1:223900000-223900800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:223900000-223900800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:223900000-223900800	Active TSS	Primary T helper cells fromperipheralblood	blood

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