Variant report

Variant	rs193929357
Chromosome Location	chr11:17408642-17408643
allele	A/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	RAD21	chr11:17408086-17408642	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr11:17408103-17408808	A549	lung:	n/a	chr11:17408412-17408422
3	RAD21	chr11:17408040-17408674	HCT-116	colon:	n/a	n/a
4	CTCF	chr11:17408540-17408690	AG04450	lung:	n/a	n/a
5	FOXA1	chr11:17408163-17408646	HepG2	liver:	n/a	n/a
6	CTCF	chr11:17408115-17408689	HCT-116	colon:	n/a	n/a
7	CTCF	chr11:17408620-17408770	GM12870	blood:	n/a	n/a
8	E2F6	chr11:17408156-17408668	A549	lung:	n/a	n/a
9	E2F6	chr11:17408236-17409018	K562	blood:	n/a	n/a
10	CTCF	chr11:17408126-17408652	K562	blood:	n/a	n/a
11	RAD21	chr11:17408108-17408697	A549	lung:	n/a	n/a
12	MAX	chr11:17408283-17408663	ECC-1	luminal epithelium:	n/a	chr11:17408412-17408422
13	CTCF	chr11:17408560-17408710	HPF	lung:	n/a	n/a
14	CTCF	chr11:17408095-17408760	A549	lung:	n/a	n/a
15	MAX	chr11:17408163-17408679	H1-hESC	embryonic stem cell:	n/a	chr11:17408412-17408422
16	CTCF	chr11:17408570-17408715	GM12891	blood:	n/a	n/a
17	FOXA2	chr11:17408255-17408664	A549	lung:	n/a	n/a
18	MAX	chr11:17408236-17408698	A549	lung:	n/a	chr11:17408412-17408422
19	MAX	chr11:17408146-17408697	MCF-7	breast:	n/a	chr11:17408412-17408422
20	CTCF	chr11:17408560-17408710	GM12864	blood:	n/a	n/a
21	MAX	chr11:17408286-17408659	H1-hESC	embryonic stem cell:	n/a	chr11:17408412-17408422
22	SMC3	chr11:17407880-17408684	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr11:17408620-17408770	NHLF	lung:	n/a	n/a
24	CTCF	chr11:17407975-17408811	SK-N-SH	brain:	n/a	n/a

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:

Variant related genes	Relation type
KCNJ11	TF binding region
ENSG00000188211	Chromatin interaction
ENSG00000006071	Chromatin interaction
ENSG00000260196	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:52 , 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	chr11:17403800-17410400	Weak transcription	HSMMtube	muscle
20	chr11:17404200-17410200	Weak transcription	HSMM	muscle
21	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
22	chr11:17405400-17409800	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr11:17405600-17408800	Weak transcription	Esophagus	oesophagus
24	chr11:17405600-17409200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
25	chr11:17406000-17408800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:17406000-17410200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:17407200-17410200	Enhancers	Lung	lung
28	chr11:17407800-17409200	Enhancers	GM12878-XiMat	blood
29	chr11:17407800-17410400	Enhancers	Fetal Heart	heart
30	chr11:17408000-17410200	Weak transcription	Right Atrium	heart
31	chr11:17408200-17408800	Enhancers	Fetal Muscle Leg	muscle
32	chr11:17408200-17408800	Weak transcription	Psoas Muscle	Psoas
33	chr11:17408200-17409000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr11:17408200-17409000	Enhancers	Left Ventricle	heart
35	chr11:17408200-17409200	Weak transcription	Brain Anterior Caudate	brain
36	chr11:17408200-17409600	Genic enhancers	Pancreas	Pancrea
37	chr11:17408200-17410200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:17408200-17410200	Enhancers	Right Ventricle	heart
39	chr11:17408400-17409000	Genic enhancers	Gastric	stomach
40	chr11:17408400-17409200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:17408400-17409600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:17408400-17409600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
43	chr11:17408400-17410200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:17408400-17410200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:17408400-17410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:17408600-17408800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:17408600-17408800	Enhancers	Duodenum Mucosa	Duodenum
48	chr11:17408600-17409200	Strong transcription	Fetal Brain Female	brain
49	chr11:17408600-17409400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:17408600-17409400	Strong transcription	Fetal Intestine Small	intestine

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