Variant report

Variant	rs1876819
Chromosome Location	chr2:30442419-30442420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30440469..30443519-chr2:30444812..30449278,5	MCF-7	breast:
2	chr2:30441437..30443660-chr2:30453236..30455726,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10209384	1.00[CHB][hapmap]
rs12468378	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13405267	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17009351	1.00[ASN][1000 genomes]
rs1876818	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2055781	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2055783	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61679945	1.00[ASN][1000 genomes]
rs6726021	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6736034	1.00[CHB][hapmap]
rs73923292	1.00[ASN][1000 genomes]
rs73923294	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30432200-30444800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:30433200-30444200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:30436800-30443800	Weak transcription	Small Intestine	intestine
4	chr2:30439800-30443400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:30439800-30446200	Enhancers	Fetal Thymus	thymus
6	chr2:30440000-30443200	Weak transcription	Gastric	stomach
7	chr2:30440200-30443000	Enhancers	Placenta	Placenta
8	chr2:30440400-30443400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:30440400-30446400	Enhancers	Thymus	Thymus
10	chr2:30440800-30448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30441000-30445600	Weak transcription	Spleen	Spleen
12	chr2:30441000-30446000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:30441000-30446200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:30441000-30446400	Weak transcription	Psoas Muscle	Psoas
15	chr2:30441000-30447800	Weak transcription	Right Atrium	heart
16	chr2:30441200-30446800	Weak transcription	Right Ventricle	heart
17	chr2:30441400-30445400	Weak transcription	GM12878-XiMat	blood
18	chr2:30441400-30446800	Weak transcription	Left Ventricle	heart
19	chr2:30441400-30446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:30441400-30448000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:30441600-30445200	Weak transcription	Primary B cells from cord blood	blood
22	chr2:30441600-30445600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:30441800-30443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:30441800-30445200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:30441800-30446600	Enhancers	Fetal Heart	heart
26	chr2:30441800-30448000	Weak transcription	Esophagus	oesophagus
27	chr2:30442000-30443200	Weak transcription	Pancreas	Pancrea
28	chr2:30442000-30444200	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:30442200-30446800	Weak transcription	Fetal Intestine Small	intestine
30	chr2:30442200-30448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:30442400-30444000	Weak transcription	HMEC	breast
32	chr2:30442400-30447800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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