Variant report

Variant	rs1778216
Chromosome Location	chr1:95064697-95064698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94997172..94998108-chr1:95064305..95065624,5	MCF-7	breast:
2	chr1:95002334..95004389-chr1:95062847..95065293,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11165177	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12079330	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12092812	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1343481	0.90[ASN][1000 genomes]
rs1629015	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747651	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747653	0.96[ASN][1000 genomes]
rs1747654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747655	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747657	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1747659	0.99[ASN][1000 genomes]
rs1772899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1772900	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1772901	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1772903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1778211	0.96[ASN][1000 genomes]
rs1778213	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1778214	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847313	0.89[ASN][1000 genomes]
rs841709	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95056200-95067800	Weak transcription	Gastric	stomach
3	chr1:95056800-95069000	Weak transcription	Right Atrium	heart
4	chr1:95057400-95069000	Weak transcription	Aorta	Aorta
5	chr1:95059400-95074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:95060800-95065400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:95061400-95066000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:95061400-95076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:95061600-95065000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:95061600-95067600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:95061600-95068800	Weak transcription	NHLF	lung
12	chr1:95061600-95071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:95061800-95064800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:95061800-95065400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:95062000-95066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:95062000-95072200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:95062400-95064800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:95062400-95070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:95062600-95064800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:95062600-95067600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:95063200-95067800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:95063400-95066200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:95063400-95066200	Weak transcription	Left Ventricle	heart
24	chr1:95063600-95064800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:95063600-95064800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:95063600-95065000	Weak transcription	Hela-S3	cervix
27	chr1:95063600-95067200	Weak transcription	Placenta	Placenta
28	chr1:95064000-95069600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:95064400-95064800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:95064400-95065200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:95064400-95069200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:95064600-95064800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:95064600-95064800	Enhancers	Stomach Mucosa	stomach
34	chr1:95064600-95065000	Weak transcription	HMEC	breast
35	chr1:95064600-95065200	Flanking Active TSS	Adipose Nuclei	Adipose

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