Variant report

Variant	rs58695960
Chromosome Location	chr11:65145572-65145573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65145480-65145630	GM12864	blood:	n/a	n/a
2	CTCF	chr11:65145440-65145590	GM12872	blood:	n/a	chr11:65145445-65145454
3	SPI1	chr11:65145399-65146362	GM12878	blood:	n/a	chr11:65145884-65145897 chr11:65145877-65145890
4	CTCF	chr11:65145440-65145590	Caco-2	colon:	n/a	chr11:65145445-65145454
5	FOXA1	chr11:65145278-65145624	HepG2	liver:	n/a	n/a
6	FOXA1	chr11:65145236-65145657	HepG2	liver:	n/a	n/a
7	CTCF	chr11:65145440-65145590	HepG2	liver:	n/a	chr11:65145445-65145454
8	RAD21	chr11:65145215-65145605	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:65145540-65145690	GM12873	blood:	n/a	n/a
10	MTA3	chr11:65145208-65146118	GM12878	blood:	n/a	n/a
11	RUNX3	chr11:65145565-65146000	GM12878	blood:	n/a	n/a
12	FOXA2	chr11:65145248-65145616	A549	lung:	n/a	n/a
13	CTCF	chr11:65145440-65145690	GM12867	blood:	n/a	chr11:65145445-65145454
14	CTCF	chr11:65145440-65145590	GM12866	blood:	n/a	chr11:65145445-65145454
15	FOXA2	chr11:65145252-65145667	A549	lung:	n/a	n/a
16	CTCF	chr11:65145460-65145610	GM12864	blood:	n/a	n/a
17	CTCF	chr11:65145460-65145610	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65144119..65146511-chr11:65485496..65488030,2	K562	blood:
2	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:

Variant related genes	Relation type
SLC25A45	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60594709	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61059875	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription 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 miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65134200-65146400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr11:65134200-65147200	Weak transcription	Fetal Thymus	thymus
3	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:65135600-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:65138200-65146200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:65138800-65147200	Weak transcription	Lung	lung
8	chr11:65138800-65147600	Weak transcription	Right Ventricle	heart
9	chr11:65138800-65149400	Weak transcription	Aorta	Aorta
10	chr11:65139200-65145600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:65139200-65146600	Weak transcription	HSMMtube	muscle
12	chr11:65139200-65148200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:65139400-65147800	Weak transcription	Psoas Muscle	Psoas
14	chr11:65139400-65148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:65140000-65146000	Weak transcription	Liver	Liver
16	chr11:65140000-65148400	Weak transcription	K562	blood
17	chr11:65140000-65149200	Weak transcription	HSMM	muscle
18	chr11:65140400-65145600	Weak transcription	Hela-S3	cervix
19	chr11:65140400-65149200	Weak transcription	Right Atrium	heart
20	chr11:65141000-65149200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:65141600-65148400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:65142000-65147400	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:65142000-65148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:65142000-65148200	Weak transcription	Left Ventricle	heart
25	chr11:65142200-65148200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:65142600-65148000	Strong transcription	Primary T cells from cord blood	blood
27	chr11:65143000-65147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:65143000-65148200	Weak transcription	HMEC	breast
29	chr11:65143000-65148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:65143200-65145800	Weak transcription	A549	lung
31	chr11:65143200-65147400	Weak transcription	Esophagus	oesophagus
32	chr11:65143200-65147400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:65143200-65148200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:65143800-65146200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:65143800-65146200	Genic enhancers	Pancreas	Pancrea
36	chr11:65144000-65146200	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:65144000-65148000	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr11:65144200-65145600	Strong transcription	Fetal Stomach	stomach
39	chr11:65144200-65148200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:65144200-65148200	Strong transcription	Thymus	Thymus
41	chr11:65144200-65149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:65144400-65146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:65144400-65146200	Weak transcription	Gastric	stomach
44	chr11:65144400-65146400	Enhancers	Primary B cells from cord blood	blood
45	chr11:65144600-65145800	Enhancers	Fetal Muscle Trunk	muscle
46	chr11:65144600-65146000	Enhancers	HepG2	liver
47	chr11:65144600-65147600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:65144800-65145600	Enhancers	Fetal Intestine Large	intestine
49	chr11:65144800-65145600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:65144800-65146200	Enhancers	Primary hematopoietic stem cells	blood

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