Variant report

Variant	rs139391954
Chromosome Location	chr11:17408358-17408359
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:17408260-17408410	SAEC	small airway:	n/a	n/a
2	RAD21	chr11:17408086-17408642	ECC-1	luminal epithelium:	n/a	n/a
3	RAD21	chr11:17408091-17408561	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:17408240-17408390	HCT-116	colon:	n/a	n/a
5	MAX	chr11:17408103-17408808	A549	lung:	n/a	chr11:17408412-17408422
6	CTCF	chr11:17408260-17408410	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:17408260-17408410	GM12873	blood:	n/a	n/a
8	CTCF	chr11:17408232-17408438	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr11:17408102-17408536	HepG2	liver:	n/a	n/a
10	GTF2F1	chr11:17408248-17408423	K562	blood:	n/a	n/a
11	CTCF	chr11:17408260-17408410	A549	lung:	n/a	n/a
12	CTCF	chr11:17408260-17408410	HPF	lung:	n/a	n/a
13	CTCF	chr11:17408280-17408430	HAc	cerebellar:	n/a	n/a
14	CTCF	chr11:17408240-17408390	GM12873	blood:	n/a	n/a
15	CTCF	chr11:17408225-17408514	GM19240	blood:	n/a	n/a
16	FOXA2	chr11:17408222-17408578	HepG2	liver:	n/a	n/a
17	CTCF	chr11:17408280-17408430	HVMF	connective:	n/a	n/a
18	CTCF	chr11:17408280-17408430	HepG2	liver:	n/a	n/a
19	RAD21	chr11:17408040-17408674	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:17408095-17408550	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr11:17408160-17408534	GM12891	blood:	n/a	n/a
22	RAD21	chr11:17407974-17408592	SK-N-SH	brain:	n/a	n/a
23	MAX	chr11:17408277-17408603	K562	blood:	n/a	chr11:17408412-17408422
24	CTCF	chr11:17408235-17408451	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr11:17408300-17408450	AG09309	skin:	n/a	n/a
26	CTCF	chr11:17408280-17408430	HBMEC	blood vessel:	n/a	n/a
27	TBL1XR1	chr11:17408253-17408417	K562	blood:	n/a	n/a
28	POLR2A	chr11:17408071-17408381	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr11:17408241-17408405	GM20000	blood:	n/a	n/a
30	MYC	chr11:17408212-17408519	MCF10A-Er-Src	breast:	n/a	chr11:17408412-17408422
31	RAD21	chr11:17408242-17408468	K562	blood:	n/a	n/a
32	CTCF	chr11:17408280-17408430	GM12868	blood:	n/a	n/a
33	TEAD4	chr11:17408156-17408560	K562	blood:	n/a	n/a
34	CTCF	chr11:17408260-17408410	GM12869	blood:	n/a	n/a
35	SMC3	chr11:17407899-17408640	K562	blood:	n/a	n/a
36	CTCF	chr11:17408280-17408430	HRE	kidney:	n/a	n/a
37	RAD21	chr11:17408249-17408475	GM12878	blood:	n/a	n/a
38	MYC	chr11:17408349-17408389	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr11:17408260-17408410	GM12864	blood:	n/a	n/a
40	YY1	chr11:17408261-17408423	GM12878	blood:	n/a	n/a
41	CTCF	chr11:17408183-17408491	A549	lung:	n/a	n/a
42	CTCF	chr11:17408196-17408540	GM12892	blood:	n/a	n/a
43	RAD21	chr11:17408186-17408485	K562	blood:	n/a	n/a
44	CTCF	chr11:17408230-17408493	GM10266	blood:	n/a	n/a
45	CTCF	chr11:17408240-17408390	GM12865	blood:	n/a	n/a
46	CTCF	chr11:17408169-17408500	K562	blood:	n/a	n/a
47	CTCF	chr11:17408300-17408450	NHEK	skin:	n/a	n/a
48	FOXA1	chr11:17408163-17408646	HepG2	liver:	n/a	n/a
49	RAD21	chr11:17408167-17408528	HepG2	liver:	n/a	n/a
50	CTCF	chr11:17408260-17408410	NHDF-neo	bronchial:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
2	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
3	chr11:17407926..17410738-chr11:17427633..17429679,2	MCF-7	breast:
4	chr11:17373252..17376530-chr11:17405235..17408726,4	K562	blood:

No data

Variant related genes	Relation type
KCNJ11	TF binding region
ENSG00000260196	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv897018	chr11:17403639-17417337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv482158	chr11:17406798-17410206	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17394400-17410200	Weak transcription	A549	lung
2	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
3	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
11	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:17401600-17410200	Weak transcription	Hela-S3	cervix
14	chr11:17401600-17410200	Weak transcription	K562	blood
15	chr11:17401800-17410200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:17402000-17410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:17402000-17410200	Weak transcription	HMEC	breast
18	chr11:17403000-17410400	Weak transcription	Aorta	Aorta
19	chr11:17403600-17408600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:17403800-17410400	Weak transcription	HSMMtube	muscle
21	chr11:17404200-17410200	Weak transcription	HSMM	muscle
22	chr11:17405000-17408600	Enhancers	Brain Angular Gyrus	brain
23	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
24	chr11:17405400-17409800	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr11:17405600-17408800	Weak transcription	Esophagus	oesophagus
26	chr11:17405600-17409200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
27	chr11:17406000-17408800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:17406000-17410200	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:17406200-17408400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:17407200-17410200	Enhancers	Lung	lung
31	chr11:17407400-17408400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:17407400-17408400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:17407600-17408400	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:17407800-17408600	Enhancers	Fetal Intestine Large	intestine
35	chr11:17407800-17409200	Enhancers	GM12878-XiMat	blood
36	chr11:17407800-17410400	Enhancers	Fetal Heart	heart
37	chr11:17408000-17408400	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:17408000-17408600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:17408000-17408600	Genic enhancers	Fetal Intestine Small	intestine
40	chr11:17408000-17410200	Weak transcription	Right Atrium	heart
41	chr11:17408200-17408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:17408200-17408400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:17408200-17408400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:17408200-17408400	Enhancers	Gastric	stomach
45	chr11:17408200-17408400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:17408200-17408600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:17408200-17408600	Weak transcription	Fetal Brain Female	brain
48	chr11:17408200-17408800	Enhancers	Fetal Muscle Leg	muscle
49	chr11:17408200-17408800	Weak transcription	Psoas Muscle	Psoas
50	chr11:17408200-17409000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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