Variant report

Variant	rs61819074
Chromosome Location	chr1:197054991-197054992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10754216	0.89[ASN][1000 genomes]
rs10801589	0.86[ASN][1000 genomes]
rs10922163	0.86[ASN][1000 genomes]
rs1127661	0.87[EUR][1000 genomes]
rs1332661	0.83[ASN][1000 genomes]
rs1412635	0.81[ASN][1000 genomes]
rs1611982	0.81[ASN][1000 genomes]
rs1615413	0.83[ASN][1000 genomes]
rs17514309	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17514324	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17549312	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17549360	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17549430	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17550014	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17550411	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17662710	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1794011	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2225565	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2298882	0.83[ASN][1000 genomes]
rs2878749	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737110	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3737111	0.89[ASN][1000 genomes]
rs3762271	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41304071	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41308365	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41310911	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41310925	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41310927	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45445493	0.81[ASN][1000 genomes]
rs4581302	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55857606	0.92[EUR][1000 genomes]
rs56084994	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56111948	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56387334	0.86[EUR][1000 genomes]
rs5996	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61819087	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819088	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819089	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819095	0.87[EUR][1000 genomes]
rs61819096	0.87[EUR][1000 genomes]
rs61819114	1.00[AFR][1000 genomes]
rs61819115	0.89[AFR][1000 genomes]
rs61819121	1.00[AFR][1000 genomes]
rs61819122	1.00[AFR][1000 genomes]
rs61820789	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61820800	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6690730	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700180	0.86[ASN][1000 genomes]
rs698859	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72736469	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72736474	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72738635	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72738637	0.90[EUR][1000 genomes]
rs7514071	0.85[ASN][1000 genomes]
rs7517428	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs857024	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs857025	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs955927	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873067	chr1:197028634-197064496	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197050400-197055200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr1:197050400-197065600	Weak transcription	Stomach Mucosa	stomach
3	chr1:197050600-197055200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr1:197050600-197055400	ZNF genes & repeats	Dnd41	blood
5	chr1:197050600-197059600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:197050600-197064400	Weak transcription	Fetal Heart	heart
7	chr1:197050800-197055600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:197050800-197057200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:197051000-197055600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:197051400-197055200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:197051400-197063000	Strong transcription	HUVEC	blood vessel
12	chr1:197051400-197069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:197051600-197055000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:197051600-197057000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:197051600-197057200	Strong transcription	NHDF-Ad	bronchial
16	chr1:197051600-197065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:197051600-197066200	Strong transcription	Hela-S3	cervix
18	chr1:197051800-197055000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:197051800-197055600	Strong transcription	HMEC	breast
20	chr1:197051800-197057000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:197051800-197061000	Strong transcription	Osteobl	bone
22	chr1:197051800-197069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:197052000-197055000	Strong transcription	Primary B cells from cord blood	blood
24	chr1:197052000-197062000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:197052000-197064200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:197052200-197055600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr1:197052200-197055600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:197052200-197055600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:197052200-197057000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:197052200-197057000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:197052200-197058000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:197052200-197061400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:197052200-197062200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:197052200-197063200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr1:197052200-197063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:197052200-197064600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:197052200-197065400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:197052200-197065400	Weak transcription	Fetal Brain Female	brain
39	chr1:197052200-197074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:197052200-197076200	Weak transcription	NHLF	lung
41	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
42	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:197052400-197057800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:197052400-197063000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:197052400-197063000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:197052400-197063200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:197052400-197065400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:197052400-197068800	Weak transcription	Primary T cells from cord blood	blood
50	chr1:197052400-197069200	Strong transcription	Fetal Thymus	thymus

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