Variant report

Variant	rs566479371
Chromosome Location	chr11:102219085-102219086
allele	A/G
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	chr11:102217289-102219193	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:102218788-102219119	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:102216663-102219212	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:102216411-102219117	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:102218681-102219121	Hela-S3	cervix:	n/a	n/a
6	TAF1	chr11:102218822-102219098	K562	blood:	n/a	n/a
7	POLR2A	chr11:102218410-102219237	HUVEC	blood vessel:	n/a	n/a
8	CHD1	chr11:102216324-102220503	IMR90	lung:	n/a	n/a
9	WRNIP1	chr11:102218224-102219150	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:102216596-102219126	GM19193	blood:	n/a	n/a
11	CTCF	chr11:102218940-102219090	HMEC	breast:	n/a	n/a
12	POLR2A	chr11:102218802-102219100	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:102217172-102219089	Hela-S3	cervix:	n/a	n/a
14	UBTF	chr11:102218808-102219142	K562	blood:	n/a	n/a
15	NFYB	chr11:102218793-102219146	GM12878	blood:	n/a	n/a
16	RFX5	chr11:102218458-102219141	Hela-S3	cervix:	n/a	n/a
17	NFYA	chr11:102218895-102219131	Hela-S3	cervix:	n/a	n/a
18	E2F4	chr11:102218783-102219154	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:102216630-102219427	PBDE	blood:	n/a	n/a
20	MYC	chr11:102217274-102219091	NB4	blood:	n/a	chr11:102217767-102217778 chr11:102218136-102218145
21	CHD1	chr11:102216702-102219105	GM12878	blood:	n/a	n/a
22	TAF1	chr11:102218819-102219121	Hela-S3	cervix:	n/a	n/a
23	RELA	chr11:102217333-102219174	GM12891	blood:	n/a	n/a
24	JUND	chr11:102216544-102219211	SK-N-SH	brain:	n/a	chr11:102217937-102217946 chr11:102218106-102218117 chr11:102218105-102218113
25	RUNX3	chr11:102217271-102219091	GM12878	blood:	n/a	chr11:102217692-102217707 chr11:102217699-102217708 chr11:102217699-102217708
26	POLR2A	chr11:102216595-102219130	GM12891	blood:	n/a	n/a
27	POLR2A	chr11:102216621-102219177	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:102218797-102219176	SK-N-SH	brain:	n/a	n/a
29	TBP	chr11:102218454-102219166	GM12878	blood:	n/a	n/a
30	MAX	chr11:102217306-102219139	NB4	blood:	n/a	chr11:102217767-102217778 chr11:102218136-102218145
31	UBTF	chr11:102218658-102219100	K562	blood:	n/a	n/a
32	CTCF	chr11:102218940-102219090	RPTEC	kidney:	n/a	n/a
33	RAD21	chr11:102218865-102219102	Hela-S3	cervix:	n/a	n/a
34	SIN3A	chr11:102217323-102219127	H1-hESC	embryonic stem cell:	n/a	chr11:102218650-102218661 chr11:102218618-102218631
35	POLR2A	chr11:102216486-102219142	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:102218486-102219141	GM12892	blood:	n/a	n/a
37	POLR2A	chr11:102218740-102219126	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:102218712-102219187	HL-60	blood:	n/a	n/a
39	POLR2A	chr11:102218715-102219149	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:102218695-102219147	ProgFib	skin:	n/a	n/a
41	POLR2A	chr11:102216644-102219211	GM12892	blood:	n/a	n/a
42	NFYB	chr11:102218807-102219118	Hela-S3	cervix:	n/a	n/a
43	JUN	chr11:102216330-102219183	K562	blood:	n/a	chr11:102217937-102217946 chr11:102218106-102218117 chr11:102218105-102218113 chr11:102217933-102217946
44	GATA1	chr11:102217395-102219234	PBDE	blood:	n/a	chr11:102218253-102218264 chr11:102218686-102218699
45	TBP	chr11:102218631-102219181	K562	blood:	n/a	n/a
46	POLR2A	chr11:102216386-102219209	HUVEC	blood vessel:	n/a	n/a
47	MXI1	chr11:102218535-102219120	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:102218741-102219145	HepG2	liver:	n/a	n/a
49	POLR2A	chr11:102218737-102219119	Hela-S3	cervix:	n/a	n/a
50	TBP	chr11:102218399-102219125	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:102215215..102219130-chr11:102321135..102324493,6	K562	blood:
2	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
3	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
4	chr11:102217672..102219340-chr11:102322046..102323844,2	MCF-7	breast:
5	chr11:102187104..102190463-chr11:102217868..102220185,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BIRC2-1	chr11:102219012-102219138	NONHSAT023879

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000023445	Chromatin interaction
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv975369	chr11:102219075-102221776	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102216200-102219600	Active TSS	A549	lung
2	chr11:102216400-102219200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:102216400-102219600	Active TSS	K562	blood
4	chr11:102216400-102219600	Active TSS	NHLF	lung
5	chr11:102216600-102219200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:102216600-102219200	Active TSS	Colonic Mucosa	Colon
7	chr11:102216600-102219200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:102216600-102219400	Active TSS	Stomach Smooth Muscle	stomach
9	chr11:102216600-102219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:102216600-102219600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:102216600-102219800	Active TSS	NHDF-Ad	bronchial
12	chr11:102216600-102220000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:102216600-102220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:102216600-102220600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr11:102216800-102219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:102216800-102219200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:102216800-102219200	Active TSS	Aorta	Aorta
18	chr11:102216800-102219200	Active TSS	Fetal Muscle Trunk	muscle
19	chr11:102216800-102219200	Active TSS	Placenta Amnion	Placenta Amnion
20	chr11:102216800-102219400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:102216800-102219400	Active TSS	HSMMtube	muscle
22	chr11:102216800-102219400	Active TSS	Osteobl	bone
23	chr11:102216800-102219600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:102216800-102219600	Active TSS	Fetal Brain Female	brain
25	chr11:102216800-102219600	Active TSS	HSMM	muscle
26	chr11:102216800-102220000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:102216800-102220000	Active TSS	Right Atrium	heart
28	chr11:102217000-102219200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:102217000-102219200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:102217000-102219200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:102217000-102219200	Active TSS	Fetal Kidney	kidney
32	chr11:102217000-102219200	Active TSS	Placenta	Placenta
33	chr11:102217000-102219200	Active TSS	Left Ventricle	heart
34	chr11:102217000-102219200	Active TSS	Psoas Muscle	Psoas
35	chr11:102217000-102219200	Active TSS	Right Ventricle	heart
36	chr11:102217000-102219200	Active TSS	Small Intestine	intestine
37	chr11:102217000-102219400	Active TSS	Duodenum Mucosa	Duodenum
38	chr11:102217000-102219600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:102217000-102219600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr11:102217000-102219600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:102217000-102219800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:102217000-102219800	Active TSS	Fetal Thymus	thymus
43	chr11:102217000-102220000	Active TSS	Thymus	Thymus
44	chr11:102217000-102221600	Active TSS	GM12878-XiMat	blood
45	chr11:102217200-102219200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:102217200-102219200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:102217200-102219200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:102217200-102219200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:102217200-102219200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr11:102217200-102219200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links