Variant report

Variant	rs13062574
Chromosome Location	chr3:194966165-194966166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194960264..194964469-chr3:194965437..194968567,4	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10933706	0.86[ASN][1000 genomes]
rs11718218	0.81[ASN][1000 genomes]
rs1832667	0.87[ASN][1000 genomes]
rs2050809	0.86[ASN][1000 genomes]
rs2050810	0.93[ASN][1000 genomes]
rs2410839	0.93[ASN][1000 genomes]
rs2410840	1.00[ASN][1000 genomes]
rs28375276	0.93[ASN][1000 genomes]
rs28688106	0.80[ASN][1000 genomes]
rs3087885	0.93[ASN][1000 genomes]
rs3773418	0.93[ASN][1000 genomes]
rs4677671	0.86[ASN][1000 genomes]
rs4677820	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4677825	0.86[ASN][1000 genomes]
rs4677830	0.86[ASN][1000 genomes]
rs58204696	0.93[ASN][1000 genomes]
rs6437467	0.86[ASN][1000 genomes]
rs6780743	0.93[ASN][1000 genomes]
rs6791943	0.93[ASN][1000 genomes]
rs6792029	0.93[ASN][1000 genomes]
rs6795263	0.93[ASN][1000 genomes]
rs73080837	0.86[ASN][1000 genomes]
rs73080839	0.86[ASN][1000 genomes]
rs7610022	0.93[ASN][1000 genomes]
rs7612694	0.86[ASN][1000 genomes]
rs7638924	0.86[ASN][1000 genomes]
rs7640100	0.84[ASN][1000 genomes]
rs7643947	0.86[ASN][1000 genomes]
rs7644002	0.86[ASN][1000 genomes]
rs7649142	0.93[ASN][1000 genomes]
rs823297	0.93[ASN][1000 genomes]
rs823298	0.86[ASN][1000 genomes]
rs823299	0.86[ASN][1000 genomes]
rs823303	0.93[ASN][1000 genomes]
rs823304	0.93[ASN][1000 genomes]
rs823305	0.87[ASN][1000 genomes]
rs823307	0.93[ASN][1000 genomes]
rs823308	0.93[ASN][1000 genomes]
rs823309	0.93[ASN][1000 genomes]
rs823312	0.83[ASN][1000 genomes]
rs823313	0.86[ASN][1000 genomes]
rs9288747	0.80[ASN][1000 genomes]
rs9831944	0.86[ASN][1000 genomes]
rs9832920	0.93[ASN][1000 genomes]
rs9860389	0.86[ASN][1000 genomes]
rs9863901	0.93[ASN][1000 genomes]
rs9878312	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
7	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
13	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
14	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
15	nsv984539	chr3:194945800-194984579	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
16	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194945400-194971600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:194946000-194971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:194955000-194973200	Weak transcription	NH-A	brain
4	chr3:194956400-194966800	Weak transcription	HSMM	muscle
5	chr3:194956600-194972800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:194957200-194971800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:194957200-194972800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:194957400-194979800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:194957600-194975400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:194958000-194966600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:194958200-194966200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:194958200-194966200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:194958200-194966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:194958200-194967000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:194958200-194967000	Weak transcription	Dnd41	blood
16	chr3:194958200-194967600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:194958400-194966200	Weak transcription	HepG2	liver
18	chr3:194958400-194979400	Weak transcription	K562	blood
19	chr3:194958600-194970200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:194958800-194971600	Weak transcription	Thymus	Thymus
21	chr3:194959200-194968000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:194959200-194979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:194959600-194966200	Weak transcription	Fetal Intestine Small	intestine
24	chr3:194959600-194971600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:194959600-194971600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:194959600-194973200	Weak transcription	Osteobl	bone
27	chr3:194959800-194966200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:194959800-194966200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:194959800-194971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:194959800-194971600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:194959800-194971600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:194959800-194971600	Weak transcription	Placenta	Placenta
33	chr3:194959800-194973400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:194959800-194973800	Weak transcription	NHLF	lung
35	chr3:194960000-194968600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:194960000-194978600	Weak transcription	Brain Substantia Nigra	brain
37	chr3:194960200-194967800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:194960200-194971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:194960200-194973400	Weak transcription	Fetal Intestine Large	intestine
40	chr3:194960400-194967200	Weak transcription	Primary T cells from cord blood	blood
41	chr3:194961200-194966200	Weak transcription	Fetal Lung	lung
42	chr3:194961200-194967000	Weak transcription	Fetal Brain Female	brain
43	chr3:194961200-194970800	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:194961200-194975000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:194961400-194966400	Weak transcription	Fetal Brain Male	brain
46	chr3:194961400-194967200	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:194961400-194968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:194961400-194968400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:194961600-194966200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:194961600-194967000	Weak transcription	Stomach Smooth Muscle	stomach

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