Variant report

Variant	rs12416930
Chromosome Location	chr11:64979848-64979849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64979709-64980455	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:64979752-64980273	K562	blood:	n/a	n/a
3	POLR2A	chr11:64979787-64980410	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:64979210-64980565	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:64979568-64980440	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:64979282-64980010	K562	blood:	n/a	n/a
7	POLR2A	chr11:64979307-64981815	K562	blood:	n/a	n/a
8	POLR2A	chr11:64979338-64980293	K562	blood:	n/a	n/a
9	POLR2A	chr11:64979399-64980386	K562	blood:	n/a	n/a
10	POLR2A	chr11:64979599-64980607	K562	blood:	n/a	n/a
11	POLR2A	chr11:64979688-64980330	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:64979599-64980393	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:64979831-64980426	HepG2	liver:	n/a	n/a
14	TBP	chr11:64979824-64979932	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:64979701-64980492	HCT-116	colon:	n/a	n/a
16	POLR2A	chr11:64979591-64979862	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:64979366-64980524	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:64979565-64982093	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64972801..64975129-chr11:64978366..64981061,2	MCF-7	breast:
2	chr11:64977931..64980208-chr11:64990996..64992937,3	K562	blood:
3	chr11:64978712..64980379-chr11:65190267..65192527,2	K562	blood:
4	chr11:64896573..64898665-chr11:64978684..64981304,2	K562	blood:
5	chr11:64935815..64939073-chr11:64978282..64980684,3	K562	blood:
6	chr11:64936901..64940048-chr11:64977014..64981623,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPDYC-1	chr11:64979741-64979890	l_492_chr11:64979303-64980906_76bGuttman_hLF

No data

Variant related genes	Relation type
SLC22A20	TF binding region
ENSG00000014216	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000204710	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11605576	0.83[ASN][1000 genomes]
rs11605632	0.81[ASN][1000 genomes]
rs12417272	0.93[ASN][1000 genomes]
rs12420456	0.83[ASN][1000 genomes]
rs34007842	0.84[ASN][1000 genomes]
rs58858596	0.86[ASN][1000 genomes]
rs67698652	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
2	chr11:64952400-64980200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:64952400-64992800	Weak transcription	Fetal Heart	heart
4	chr11:64964200-64980000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:64964400-64981000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:64969400-64980000	Strong transcription	HMEC	breast
7	chr11:64969800-64980000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:64970000-64980200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr11:64971000-64980000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:64971000-64980200	Strong transcription	Gastric	stomach
11	chr11:64971400-64980000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:64971400-64980000	Strong transcription	Pancreas	Pancrea
13	chr11:64971400-64980200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:64971400-64980200	Strong transcription	NHLF	lung
15	chr11:64971600-64980000	Strong transcription	Right Ventricle	heart
16	chr11:64971600-64980400	Strong transcription	Esophagus	oesophagus
17	chr11:64971800-64980400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:64972600-64980000	Strong transcription	Left Ventricle	heart
19	chr11:64972800-64980200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:64973000-64980800	Weak transcription	NH-A	brain
21	chr11:64973200-64980400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:64973800-64980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:64973800-64992600	Weak transcription	Fetal Kidney	kidney
24	chr11:64974000-64980400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:64974200-64980800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64974600-64980200	Weak transcription	HUVEC	blood vessel
27	chr11:64975800-64982400	Genic enhancers	Fetal Intestine Small	intestine
28	chr11:64976400-64980000	Strong transcription	Lung	lung
29	chr11:64976600-64992600	Weak transcription	Psoas Muscle	Psoas
30	chr11:64976800-64980800	Weak transcription	Primary B cells from cord blood	blood
31	chr11:64977200-64980000	Weak transcription	Fetal Brain Male	brain
32	chr11:64977400-64980200	Strong transcription	Colonic Mucosa	Colon
33	chr11:64977400-64998400	Weak transcription	Small Intestine	intestine
34	chr11:64977600-64980600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:64977600-64980800	Weak transcription	GM12878-XiMat	blood
36	chr11:64977600-64993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:64977800-64980000	Genic enhancers	Fetal Thymus	thymus
38	chr11:64977800-64980200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:64978000-64980200	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr11:64978000-64980800	Weak transcription	Brain Substantia Nigra	brain
41	chr11:64978200-64980800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:64978200-64982800	Weak transcription	Fetal Lung	lung
43	chr11:64978200-64986800	Weak transcription	HepG2	liver
44	chr11:64978400-64980200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:64978400-64980800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:64978400-64992200	Weak transcription	Stomach Mucosa	stomach
47	chr11:64978400-64992800	Weak transcription	HSMM	muscle
48	chr11:64978600-64980000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr11:64978600-64980400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr11:64978600-64980800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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