Variant report

Variant	rs7927563
Chromosome Location	chr11:74951191-74951192
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:74951164-74953261	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74951179-74951229	IMR90	lung:	fetal
2	chr11:74951179-74951229	SKMC	muscle:	n/a
3	chr11:74951179-74951229	Jurkat	blood:	n/a
4	chr11:74951179-74951229	HMEC	breast:	n/a
5	chr11:74951179-74951229	SAEC	small airway:	n/a
6	chr11:74951179-74951229	HRPEpiC	eye:	n/a
7	chr11:74951179-74951229	T-47D	breast:	n/a
8	chr11:74951179-74951229	HRCEpiC	kidney:	n/a
9	chr11:74951179-74951229	GM12891	blood:	n/a
10	chr11:74951179-74951229	SK-N-MC	brain:	n/a
11	chr11:74951179-74951229	SK-N-SH	brain:	n/a
12	chr11:74951179-74951229	Caco-2	colon:	n/a
13	chr11:74951179-74951229	NH-A	brain:	n/a
14	chr11:74951179-74951229	A549	lung:	n/a
15	chr11:74951179-74951229	Hela-S3	cervix:	n/a
16	chr11:74951179-74951229	HRE	kidney:	n/a
17	chr11:74951179-74951229	U87	brain:	n/a
18	chr11:74951179-74951229	PANC-1	pancreas:	n/a
19	chr11:74951179-74951229	Hepatocyte	liver:	n/a
20	chr11:74951179-74951229	AG10803	skin:	n/a
21	chr11:74951179-74951229	MCF-7	breast:	n/a
22	chr11:74951179-74951229	H1-hESC	embryonic stem cell:	embryo
23	chr11:74951179-74951229	HEK293	kidney:	embryo
24	chr11:74951179-74951229	HCPEpiC	choroid plexus:	n/a
25	chr11:74951179-74951229	AG04450	lung:	fetal
26	chr11:74951179-74951229	HNPCEpiC	eye:	n/a
27	chr11:74951179-74951229	HCM	heart:	n/a
28	chr11:74951179-74951229	LNCaP	prostate:	n/a
29	chr11:74951179-74951229	AG04449	skin:	fetal
30	chr11:74951179-74951229	AoSMC	blood vessel:	n/a
31	chr11:74951179-74951229	HCF	heart:	n/a
32	chr11:74951179-74951229	K562	blood:	n/a
33	chr11:74951179-74951229	HepG2	liver:	n/a
34	chr11:74951179-74951229	NT2-D1	testis:	n/a
35	chr11:74951179-74951229	GM12892	blood:	n/a
36	chr11:74951179-74951229	HL-60	blood:	n/a
37	chr11:74951179-74951229	AG09319	gingival:	n/a
38	chr11:74951179-74951229	SK-N-SH_RA	brain:	n/a
39	chr11:74951179-74951229	ovcar-3	ovarian:	n/a
40	chr11:74951179-74951229	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:74951179-74951229	HEEpiC	esophagus:	n/a
42	chr11:74951179-74951229	PFSK-1	brain:	n/a
43	chr11:74951179-74951229	NHDF-neo	bronchial:	n/a
44	chr11:74951179-74951229	NHBE	bronchial:	n/a
45	chr11:74951179-74951229	AG09309	skin:	n/a
46	chr11:74951179-74951229	GM12878	blood:	n/a
47	chr11:74951179-74951229	MCF10A-Er-Src	breast:	n/a
48	chr11:74951179-74951229	BE2_C	brain:	n/a
49	chr11:74951179-74951229	ECC-1	luminal epithelium:	n/a
50	chr11:74951179-74951229	HCT-116	colon:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74923854..74925700-chr11:74949115..74951246,2	K562	blood:
2	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:

No data

Variant related genes	Relation type
TPBGL	TF binding region
TPBGL	CpG island
ENSG00000118363	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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74945400-74951600	Weak transcription	Ovary	ovary
2	chr11:74950000-74951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:74950200-74951200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr11:74950200-74951200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr11:74950400-74951200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr11:74950600-74951200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:74950600-74951400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:74950800-74951200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr11:74951000-74951200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr11:74951000-74951200	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
11	chr11:74951000-74951400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:74951000-74951400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:74951000-74951400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr11:74951000-74951400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr11:74951000-74951400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:74951000-74951400	Bivalent Enhancer	Brain Germinal Matrix	brain
17	chr11:74951000-74951400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:74951000-74951400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr11:74951000-74951600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr11:74951000-74952200	Enhancers	Spleen	Spleen
21	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
22	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
23	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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