Variant report

Variant	rs67698652
Chromosome Location	chr11:64980051-64980052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 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	chr11:64979961-64980336	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:64980035-64980235	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:64979210-64980565	PANC-1	pancreas:	n/a	n/a
7	RCOR1	chr11:64979964-64980108	K562	blood:	n/a	n/a
8	POLR2A	chr11:64979568-64980440	GM12892	blood:	n/a	n/a
9	MAZ	chr11:64980038-64980103	K562	blood:	n/a	n/a
10	POLR2A	chr11:64979996-64980483	HCT-116	colon:	n/a	n/a
11	POLR2A	chr11:64979307-64981815	K562	blood:	n/a	n/a
12	POLR2A	chr11:64979338-64980293	K562	blood:	n/a	n/a
13	POLR2A	chr11:64979399-64980386	K562	blood:	n/a	n/a
14	POLR2A	chr11:64979599-64980607	K562	blood:	n/a	n/a
15	POLR2A	chr11:64979688-64980330	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:64979868-64980307	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr11:64979934-64980429	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:64979599-64980393	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:64980016-64980065	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr11:64979831-64980426	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:64979995-64980463	U87	brain:	n/a	n/a
22	POLR2A	chr11:64979701-64980492	HCT-116	colon:	n/a	n/a
23	POLR2A	chr11:64980041-64980298	ECC-1	luminal epithelium:	n/a	n/a
24	ZBTB7A	chr11:64979918-64980102	K562	blood:	n/a	n/a
25	POLR2A	chr11:64980001-64980463	U87	brain:	n/a	n/a
26	POLR2A	chr11:64979958-64980230	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:64979366-64980524	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:64979994-64980267	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:64979565-64982093	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:64979998-64980223	A549	lung:	n/a	n/a
31	POLR2A	chr11:64979963-64980391	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:64979919-64980321	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:64979960-64980432	MCF-7	breast:	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	chr11:64979974-64981116	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	0.81[ASN][1000 genomes]
rs11605632	0.82[EUR][1000 genomes]
rs12416930	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12417272	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12420456	0.81[ASN][1000 genomes]
rs34007842	0.82[ASN][1000 genomes]
rs58858596	0.84[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	chr11:64964400-64981000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:64970000-64980200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr11:64971000-64980200	Strong transcription	Gastric	stomach
7	chr11:64971400-64980200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:64971400-64980200	Strong transcription	NHLF	lung
9	chr11:64971600-64980400	Strong transcription	Esophagus	oesophagus
10	chr11:64971800-64980400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:64972800-64980200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:64973000-64980800	Weak transcription	NH-A	brain
13	chr11:64973200-64980400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:64973800-64980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:64973800-64992600	Weak transcription	Fetal Kidney	kidney
16	chr11:64974000-64980400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:64974200-64980800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:64974600-64980200	Weak transcription	HUVEC	blood vessel
19	chr11:64975800-64982400	Genic enhancers	Fetal Intestine Small	intestine
20	chr11:64976600-64992600	Weak transcription	Psoas Muscle	Psoas
21	chr11:64976800-64980800	Weak transcription	Primary B cells from cord blood	blood
22	chr11:64977400-64980200	Strong transcription	Colonic Mucosa	Colon
23	chr11:64977400-64998400	Weak transcription	Small Intestine	intestine
24	chr11:64977600-64980600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:64977600-64980800	Weak transcription	GM12878-XiMat	blood
26	chr11:64977600-64993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:64977800-64980200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:64978000-64980200	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr11:64978000-64980800	Weak transcription	Brain Substantia Nigra	brain
30	chr11:64978200-64980800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:64978200-64982800	Weak transcription	Fetal Lung	lung
32	chr11:64978200-64986800	Weak transcription	HepG2	liver
33	chr11:64978400-64980200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:64978400-64980800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:64978400-64992200	Weak transcription	Stomach Mucosa	stomach
36	chr11:64978400-64992800	Weak transcription	HSMM	muscle
37	chr11:64978600-64980400	Genic enhancers	Fetal Muscle Leg	muscle
38	chr11:64978600-64980800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:64978600-64980800	Weak transcription	Hela-S3	cervix
40	chr11:64978600-64981200	Weak transcription	Primary T cells from cord blood	blood
41	chr11:64978600-64992800	Weak transcription	HSMMtube	muscle
42	chr11:64978800-64980600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:64978800-64981000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:64978800-64987000	Weak transcription	NHDF-Ad	bronchial
45	chr11:64979000-64980800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:64979000-64980800	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:64979000-64980800	Weak transcription	Dnd41	blood
48	chr11:64979000-64981600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:64979200-64980400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:64979200-64981000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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