Variant report

Variant	rs376457231
Chromosome Location	chr11:65836096-65836097
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	STAT5A	chr11:65835763-65837684	GM12878	blood:	n/a	n/a
2	RAD21	chr11:65835631-65836117	A549	lung:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
3	RAD21	chr11:65835523-65836187	MCF-7	breast:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
4	RAD21	chr11:65835352-65836316	SK-N-SH	brain:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
5	ATF3	chr11:65835648-65836190	A549	lung:	n/a	n/a
6	CTCF	chr11:65835581-65836204	HCT-116	colon:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
7	NRF1	chr11:65835625-65838067	SK-N-SH	brain:	n/a	chr11:65837813-65837824 chr11:65837810-65837824
8	SMC3	chr11:65835527-65836336	SK-N-SH	brain:	n/a	chr11:65835874-65835888
9	SP1	chr11:65836008-65836358	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:65835636-65836169	K562	blood:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
11	RAD21	chr11:65835465-65836266	HCT-116	colon:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
12	SMC3	chr11:65835724-65836097	K562	blood:	n/a	chr11:65835874-65835888
13	MAFF	chr11:65835854-65836195	HepG2	liver:	n/a	n/a
14	TCF12	chr11:65835507-65837748	A549	lung:	n/a	n/a
15	RAD21	chr11:65835691-65836118	ECC-1	luminal epithelium:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
16	MTA3	chr11:65835659-65837825	GM12878	blood:	n/a	n/a
17	MAX	chr11:65835750-65836122	A549	lung:	n/a	n/a
18	CTCF	chr11:65834913-65836259	A549	lung:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
19	NFIC	chr11:65835582-65836135	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr11:65834974-65838748	SK-N-SH	brain:	n/a	chr11:65838478-65838491 chr11:65838476-65838494 chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
21	RAD21	chr11:65835528-65836168	A549	lung:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
22	SMC3	chr11:65835738-65836103	GM12878	blood:	n/a	chr11:65835874-65835888
23	CTCF	chr11:65835654-65836134	MCF-7	breast:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
24	CTCF	chr11:65835507-65836181	MCF-7	breast:	n/a	chr11:65835874-65835887 chr11:65835872-65835890 chr11:65835867-65835888 chr11:65835873-65835889 chr11:65835877-65835885
25	FOXM1	chr11:65835686-65836155	GM12878	blood:	n/a	n/a
26	RAD21	chr11:65835566-65836116	HCT-116	colon:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
27	ZNF263	chr11:65835481-65836134	HEK293-T-REx	kidney:	n/a	chr11:65835734-65835755
28	RAD21	chr11:65835555-65836128	ECC-1	luminal epithelium:	n/a	chr11:65835873-65835886 chr11:65835876-65835885 chr11:65835880-65835887 chr11:65835870-65835889 chr11:65835952-65835965
29	MAFK	chr11:65835706-65836160	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
2	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
3	chr11:65812201..65814006-chr11:65833921..65836110,2	K562	blood:
4	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:
5	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
6	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
7	chr11:65788482..65791914-chr11:65833749..65837289,3	MCF-7	breast:
8	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
9	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
10	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
11	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
12	chr11:65835414..65836385-chr11:65901737..65902639,2	MCF-7	breast:
13	chr11:65625072..65626937-chr11:65835477..65837832,2	K562	blood:
14	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
15	chr11:65826023..65826968-chr11:65835410..65836300,2	K562	blood:
16	chr11:65773321..65775670-chr11:65834388..65836189,2	K562	blood:

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175229	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
5	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
7	chr11:65822000-65836200	Strong transcription	Hela-S3	cervix
8	chr11:65822000-65836400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:65822000-65836400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:65822000-65836400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr11:65822200-65836200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:65822200-65836600	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr11:65822600-65836400	Strong transcription	Brain Angular Gyrus	brain
14	chr11:65828200-65836400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:65828200-65838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:65828400-65836600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65829400-65836800	Strong transcription	Dnd41	blood
18	chr11:65831800-65836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:65831800-65836800	Weak transcription	Small Intestine	intestine
20	chr11:65832400-65836800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:65832800-65837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:65833000-65836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65833600-65836600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:65833800-65836600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:65833800-65836600	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:65833800-65836600	Genic enhancers	Primary hematopoietic stem cells	blood
27	chr11:65833800-65836800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:65833800-65836800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:65833800-65836800	Genic enhancers	Liver	Liver
30	chr11:65834000-65836600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
31	chr11:65834000-65836600	Genic enhancers	HepG2	liver
32	chr11:65834000-65836800	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr11:65834000-65836800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr11:65834000-65836800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:65834200-65836600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:65834200-65836600	Genic enhancers	Brain Hippocampus Middle	brain
37	chr11:65834400-65836400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:65834800-65836600	Genic enhancers	Adipose Nuclei	Adipose
39	chr11:65834800-65836600	Enhancers	Fetal Brain Male	brain
40	chr11:65835000-65836200	Enhancers	Fetal Heart	heart
41	chr11:65835000-65836400	Genic enhancers	Colon Smooth Muscle	Colon
42	chr11:65835000-65836400	Weak transcription	Stomach Mucosa	stomach
43	chr11:65835000-65836600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:65835000-65836600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:65835000-65837000	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr11:65835200-65836800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:65835200-65836800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:65835200-65836800	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr11:65835200-65837000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:65835400-65836400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links