Variant report

Variant	rs1930759
Chromosome Location	chr1:57013616-57013617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:57010110..57012912-chr1:57012991..57015582,3	K562	blood:
2	chr1:56879071..56881393-chr1:57012457..57015249,2	MCF-7	breast:
3	chr1:56986987..56987522-chr1:57013439..57014094,2	MCF-7	breast:
4	chr1:57010225..57012912-chr1:57013019..57015582,2	K562	blood:

Variant related genes	Relation type
ENSG00000223956	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12402226	1.00[YRI][hapmap]
rs17429642	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470134	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:57001200-57018800	Weak transcription	A549	lung
3	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
4	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
6	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:57004000-57014800	Weak transcription	Fetal Thymus	thymus
9	chr1:57005600-57013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:57007800-57015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:57008600-57014800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:57008600-57015000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:57009200-57014600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
16	chr1:57010400-57019200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:57010400-57019600	Enhancers	Right Ventricle	heart
18	chr1:57010600-57017200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:57011000-57017200	Enhancers	Brain Anterior Caudate	brain
20	chr1:57011000-57020200	Enhancers	Brain Hippocampus Middle	brain
21	chr1:57011600-57015000	Weak transcription	Aorta	Aorta
22	chr1:57011600-57016600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:57011800-57014600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:57011800-57015600	Weak transcription	Fetal Stomach	stomach
25	chr1:57011800-57018000	Enhancers	Brain Substantia Nigra	brain
26	chr1:57012000-57013800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:57012000-57014200	Strong transcription	NHLF	lung
28	chr1:57012000-57014400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:57012000-57016800	Enhancers	HepG2	liver
30	chr1:57012000-57017000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:57012000-57017000	Weak transcription	Spleen	Spleen
32	chr1:57012200-57014200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:57012200-57014400	Enhancers	Fetal Intestine Small	intestine
34	chr1:57012200-57017800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:57012400-57017000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:57012600-57019200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:57012600-57019600	Enhancers	Brain Angular Gyrus	brain
38	chr1:57012600-57020000	Enhancers	Adipose Nuclei	Adipose
39	chr1:57012800-57013800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:57012800-57014200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:57012800-57015200	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr1:57012800-57016000	Enhancers	HSMMtube	muscle
43	chr1:57012800-57017000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:57013000-57014000	Enhancers	Fetal Brain Male	brain
45	chr1:57013000-57014400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:57013000-57014400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:57013000-57014400	Enhancers	Stomach Mucosa	stomach
48	chr1:57013000-57014600	Enhancers	Fetal Heart	heart
49	chr1:57013000-57014800	Enhancers	Placenta	Placenta
50	chr1:57013000-57015000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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