Variant report

Variant	rs541399992
Chromosome Location	chr11:34912649-34912650
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	chr11:34912523-34912686	LNCaP	prostate:	n/a	chr11:34912574-34912592
2	CTCF	chr11:34912500-34912650	AoAF	blood vessel:	n/a	chr11:34912574-34912592
3	CTCF	chr11:34912560-34912710	HCM	heart:	n/a	chr11:34912574-34912592
4	RAD21	chr11:34912349-34912697	SK-N-SH_RA	brain:	n/a	chr11:34912572-34912591
5	CTCF	chr11:34912540-34912690	HRE	kidney:	n/a	chr11:34912574-34912592
6	PBX3	chr11:34912251-34912845	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr11:34912490-34912733	Spleen_OC	spleen:	n/a	chr11:34912574-34912592
8	RAD21	chr11:34912237-34912783	IMR90	lung:	n/a	chr11:34912572-34912591
9	CTCF	chr11:34912560-34912710	AG09319	gingival:	n/a	chr11:34912574-34912592
10	RAD21	chr11:34911490-34913019	A549	lung:	n/a	chr11:34912572-34912591
11	CTCF	chr11:34912520-34912670	AG09319	gingival:	n/a	chr11:34912574-34912592
12	RAD21	chr11:34912374-34912662	K562	blood:	n/a	chr11:34912572-34912591
13	CTCF	chr11:34912520-34912670	K562	blood:	n/a	chr11:34912574-34912592
14	CTCF	chr11:34912500-34912650	RPTEC	kidney:	n/a	chr11:34912574-34912592
15	CTCF	chr11:34912518-34912655	HepG2	liver:	n/a	chr11:34912574-34912592
16	CTCF	chr11:34912390-34912722	K562	blood:	n/a	chr11:34912574-34912592
17	CTCF	chr11:34912500-34912650	HPF	lung:	n/a	chr11:34912574-34912592
18	CTCF	chr11:34912540-34912690	GM12865	blood:	n/a	chr11:34912574-34912592
19	E2F4	chr11:34912418-34912707	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr11:34911476-34912842	HCT-116	colon:	n/a	chr11:34912572-34912591
21	CTCF	chr11:34912520-34912670	GM12871	blood:	n/a	chr11:34912574-34912592
22	CTCF	chr11:34912328-34912839	MCF-7	breast:	n/a	chr11:34912574-34912592
23	RAD21	chr11:34912375-34912784	GM12878	blood:	n/a	chr11:34912572-34912591
24	RAD21	chr11:34912196-34912875	HCT-116	colon:	n/a	chr11:34912572-34912591
25	CTCF	chr11:34912500-34912650	NHEK	skin:	n/a	chr11:34912574-34912592
26	CTCF	chr11:34912356-34912733	A549	lung:	n/a	chr11:34912574-34912592
27	ZNF143	chr11:34912415-34912692	K562	blood:	n/a	n/a
28	CTCF	chr11:34912520-34912670	GM12864	blood:	n/a	chr11:34912574-34912592
29	CTCF	chr11:34912488-34912678	GM13977	blood:	n/a	chr11:34912574-34912592
30	RAD21	chr11:34912339-34912829	ECC-1	luminal epithelium:	n/a	chr11:34912572-34912591
31	CTCF	chr11:34912520-34912670	HRPEpiC	eye:	n/a	chr11:34912574-34912592
32	TBL1XR1	chr11:34912448-34912791	K562	blood:	n/a	n/a
33	IRF3	chr11:34912642-34912765	GM12878	blood:	n/a	n/a
34	RAD21	chr11:34912413-34912806	MCF-7	breast:	n/a	chr11:34912572-34912591
35	CTCF	chr11:34912461-34912708	HepG2	liver:	n/a	chr11:34912574-34912592
36	CTCF	chr11:34912525-34912675	GM10248	blood:	n/a	chr11:34912574-34912592
37	CTCF	chr11:34912580-34912730	HCM	heart:	n/a	n/a
38	CTCF	chr11:34912500-34912650	SAEC	small airway:	n/a	chr11:34912574-34912592
39	CTCF	chr11:34912500-34912650	Caco-2	colon:	n/a	chr11:34912574-34912592
40	CTCF	chr11:34912600-34912750	GM12864	blood:	n/a	n/a
41	CTCF	chr11:34912354-34912856	IMR90	lung:	n/a	chr11:34912574-34912592
42	CTCF	chr11:34912540-34912690	HPF	lung:	n/a	chr11:34912574-34912592
43	CTCF	chr11:34912520-34912670	MCF-7	breast:	n/a	chr11:34912574-34912592
44	CTCF	chr11:34912520-34912670	HEEpiC	esophagus:	n/a	chr11:34912574-34912592
45	CTCF	chr11:34912520-34912670	HPAF	blood vessel:	n/a	chr11:34912574-34912592
46	RAD21	chr11:34912390-34912702	GM12878	blood:	n/a	chr11:34912572-34912591
47	CTCF	chr11:34911510-34912908	HCT-116	colon:	n/a	chr11:34911824-34911845 chr11:34912574-34912592
48	RAD21	chr11:34912383-34912716	SK-N-SH_RA	brain:	n/a	chr11:34912572-34912591
49	CTCF	chr11:34912319-34912736	A549	lung:	n/a	chr11:34912574-34912592
50	CTCF	chr11:34912382-34912694	MCF-7	breast:	n/a	chr11:34912574-34912592

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34891442..34894035-chr11:34912560..34915333,2	K562	blood:

Variant related genes	Relation type
APIP	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv8807	chr11:34912167-34930289	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
2	chr11:34891200-34919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:34892600-34913000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:34893000-34921400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:34895000-34921200	Weak transcription	Right Ventricle	heart
6	chr11:34897000-34913000	Weak transcription	Lung	lung
7	chr11:34897000-34919200	Weak transcription	Fetal Stomach	stomach
8	chr11:34897600-34919200	Weak transcription	Fetal Heart	heart
9	chr11:34898200-34926800	Weak transcription	HSMMtube	muscle
10	chr11:34898400-34912800	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:34899000-34917400	Weak transcription	HSMM	muscle
12	chr11:34900000-34918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:34900200-34917200	Weak transcription	HUVEC	blood vessel
14	chr11:34900200-34921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:34901400-34917400	Weak transcription	Fetal Kidney	kidney
16	chr11:34901400-34920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:34901600-34918200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:34901800-34916800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:34901800-34917000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:34902000-34921600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:34902200-34915600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:34902400-34912800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:34903600-34919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:34903800-34914200	Weak transcription	Fetal Brain Male	brain
25	chr11:34904000-34918600	Weak transcription	NHDF-Ad	bronchial
26	chr11:34904800-34915600	Weak transcription	GM12878-XiMat	blood
27	chr11:34905000-34912800	Weak transcription	Primary B cells from cord blood	blood
28	chr11:34905000-34917800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:34905200-34912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:34905200-34915200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:34905200-34915400	Weak transcription	Fetal Brain Female	brain
32	chr11:34905200-34917800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:34906200-34916200	Weak transcription	Primary T cells from cord blood	blood
34	chr11:34907200-34918200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:34907400-34917800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:34907800-34918000	Weak transcription	Fetal Intestine Large	intestine
37	chr11:34908400-34921200	Weak transcription	Aorta	Aorta
38	chr11:34908600-34917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:34908800-34915600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:34908800-34921000	Weak transcription	Ovary	ovary
41	chr11:34909000-34915000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:34909200-34912800	Weak transcription	HepG2	liver
43	chr11:34909200-34919200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:34909400-34918200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:34909600-34918200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:34909800-34921600	Weak transcription	Stomach Mucosa	stomach
47	chr11:34910000-34915800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:34910000-34918200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:34910200-34913200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:34910200-34914200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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