Variant report

Variant	rs10171979
Chromosome Location	chr2:112823320-112823321
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112728900..112731202-chr2:112820823..112823636,2	K562	blood:
2	chr2:112815166..112819031-chr2:112819758..112824247,10	K562	blood:
3	chr2:112822054..112823664-chr2:112839537..112842253,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12469847	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015619	0.81[ASN][1000 genomes]
rs4078410	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4491736	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4567941	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848262	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4848978	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6713344	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6718840	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6760032	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9308665	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9308666	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
2	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:112814800-112823800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:112814800-112826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:112814800-112832200	Weak transcription	A549	lung
10	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
11	chr2:112815000-112824000	Weak transcription	Brain Germinal Matrix	brain
12	chr2:112815200-112823600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:112815200-112823600	Weak transcription	Fetal Brain Male	brain
14	chr2:112815200-112833200	Weak transcription	Hela-S3	cervix
15	chr2:112816000-112825000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:112816000-112833800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:112816400-112827200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:112816400-112829600	Strong transcription	Placenta	Placenta
19	chr2:112816600-112825200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:112816600-112834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:112817000-112827000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:112817000-112827400	Strong transcription	Fetal Stomach	stomach
25	chr2:112817000-112830200	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:112817200-112823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:112817200-112824800	Weak transcription	Stomach Mucosa	stomach
28	chr2:112817200-112825200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:112817400-112824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:112817400-112827800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:112817400-112835400	Weak transcription	Esophagus	oesophagus
32	chr2:112817400-112835400	Weak transcription	Right Ventricle	heart
33	chr2:112817600-112824000	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr2:112818200-112829800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:112818400-112827200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:112818600-112827400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:112818600-112827600	Strong transcription	Liver	Liver
38	chr2:112818600-112829600	Strong transcription	Primary B cells from cord blood	blood
39	chr2:112818600-112833800	Strong transcription	Primary T cells from cord blood	blood
40	chr2:112818600-112836600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:112818800-112825600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:112818800-112825600	Strong transcription	Fetal Lung	lung
43	chr2:112818800-112834000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:112819000-112827600	Strong transcription	Fetal Thymus	thymus
45	chr2:112819200-112826000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:112819200-112838200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:112819400-112824400	Genic enhancers	HUVEC	blood vessel
48	chr2:112819400-112827800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:112819600-112836400	Strong transcription	Fetal Intestine Large	intestine
50	chr2:112819800-112826800	Weak transcription	Fetal Kidney	kidney

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