Variant report

Variant	rs61852424
Chromosome Location	chr1:246818244-246818245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246817586..246818454-chr1:246829878..246830575,2	K562	blood:
2	chr1:246803588..246807692-chr1:246815416..246819511,4	K562	blood:
3	chr1:246272101..246273950-chr1:246817056..246818596,2	K562	blood:
4	chr1:246817289..246819425-chr1:246820924..246823201,2	MCF-7	breast:
5	chr1:246815669..246818664-chr1:246820426..246822139,2	K562	blood:
6	chr1:246817628..246820326-chr1:246894643..246896981,2	MCF-7	breast:
7	chr1:246810760..246814409-chr1:246816683..246820922,4	K562	blood:
8	chr1:246813415..246815262-chr1:246816849..246818678,2	K562	blood:

No data

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11586702	1.00[ASN][1000 genomes]
rs12117791	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119414	1.00[ASN][1000 genomes]
rs12121655	1.00[ASN][1000 genomes]
rs12122261	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127426	0.86[EUR][1000 genomes]
rs12130507	1.00[ASN][1000 genomes]
rs12134535	1.00[ASN][1000 genomes]
rs12728036	1.00[ASN][1000 genomes]
rs12728813	1.00[ASN][1000 genomes]
rs12750060	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385126	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34471048	1.00[ASN][1000 genomes]
rs34695209	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35795797	1.00[ASN][1000 genomes]
rs61852409	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852425	1.00[ASN][1000 genomes]
rs6669532	1.00[ASN][1000 genomes]
rs6687128	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701305	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704469	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426208	1.00[ASN][1000 genomes]
rs9426254	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS 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	22 gene(s)	inside rSNPs	diseases
4	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1014280	chr1:246709243-246823255	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1002595	chr1:246774036-246846548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1007194	chr1:246813090-246855424	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:246784200-246833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:246789200-246839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:246796000-246831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:246796200-246822000	Weak transcription	Brain Substantia Nigra	brain
6	chr1:246801000-246826400	Weak transcription	HMEC	breast
7	chr1:246801000-246829000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:246801600-246842800	Weak transcription	Fetal Kidney	kidney
9	chr1:246803400-246822000	Weak transcription	Psoas Muscle	Psoas
10	chr1:246804200-246833400	Strong transcription	Liver	Liver
11	chr1:246804600-246833800	Strong transcription	Primary T cells from cord blood	blood
12	chr1:246804800-246834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:246805200-246819400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:246805200-246825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:246805400-246837600	Weak transcription	Small Intestine	intestine
16	chr1:246807200-246820600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:246809600-246818400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:246810200-246819200	Strong transcription	Dnd41	blood
19	chr1:246810600-246828200	Weak transcription	Fetal Heart	heart
20	chr1:246811000-246820000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:246811000-246820000	Weak transcription	Esophagus	oesophagus
22	chr1:246811000-246820000	Weak transcription	Fetal Intestine Small	intestine
23	chr1:246811000-246820400	Weak transcription	Lung	lung
24	chr1:246811000-246828600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:246811000-246835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:246811200-246819400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:246811200-246820800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:246811200-246822000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:246811200-246823600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:246811200-246829000	Weak transcription	HSMM	muscle
31	chr1:246811200-246829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:246811200-246835400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:246811200-246837400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:246811400-246820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:246811400-246822600	Weak transcription	NHEK	skin
36	chr1:246811400-246823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:246811400-246824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:246811400-246828400	Weak transcription	Pancreas	Pancrea
39	chr1:246811400-246832600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:246811400-246837400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:246811600-246823400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:246811600-246825000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:246811600-246829000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:246811800-246828800	Weak transcription	Colonic Mucosa	Colon
45	chr1:246811800-246841000	Weak transcription	Hela-S3	cervix
46	chr1:246812200-246825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:246812800-246826800	Strong transcription	K562	blood
48	chr1:246813000-246826400	Strong transcription	Osteobl	bone
49	chr1:246813200-246824800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:246813400-246822000	Weak transcription	Brain Angular Gyrus	brain

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