Variant report

Variant	rs4930319
Chromosome Location	chr11:65555458-65555459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr11:65554479-65555892	H1-hESC	embryonic stem cell:	n/a	chr11:65554555-65554564 chr11:65555196-65555205 chr11:65555197-65555212 chr11:65554553-65554563 chr11:65555353-65555362 chr11:65555353-65555365 chr11:65554603-65554612
2	MAX	chr11:65553717-65556062	H1-hESC	embryonic stem cell:	n/a	chr11:65554464-65554474 chr11:65555943-65555953 chr11:65555243-65555253 chr11:65554157-65554167 chr11:65555486-65555495
3	POLR2A	chr11:65555418-65556203	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr11:65555126-65555926	H1-hESC	embryonic stem cell:	n/a	chr11:65555196-65555205 chr11:65555899-65555908 chr11:65555197-65555212 chr11:65555353-65555362 chr11:65555353-65555365
5	SIN3AK20	chr11:65553765-65556882	MCF-7	breast:	n/a	n/a
6	BACH1	chr11:65555221-65556084	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr11:65555347-65556113	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB7A	chr11:65555314-65555917	ECC-1	luminal epithelium:	n/a	chr11:65555490-65555504
9	GABPA	chr11:65555252-65555979	H1-hESC	embryonic stem cell:	n/a	chr11:65555353-65555362 chr11:65555899-65555908
10	NR2F2	chr11:65555413-65556639	MCF-7	breast:	n/a	chr11:65555975-65555990
11	TAF1	chr11:65555430-65555984	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:65554758-65555547	H1-hESC	embryonic stem cell:	n/a	chr11:65555243-65555253 chr11:65555486-65555495

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65555418-65555468	AG10803	skin:	n/a
2	chr11:65555418-65555468	U87	brain:	n/a
3	chr11:65555418-65555468	HCPEpiC	choroid plexus:	n/a
4	chr11:65555418-65555468	PrEC	prostate:	n/a
5	chr11:65555418-65555468	T-47D	breast:	n/a
6	chr11:65555418-65555468	HL-60	blood:	n/a
7	chr11:65555418-65555468	GM19239	blood:	n/a
8	chr11:65555418-65555468	IMR90	lung:	fetal
9	chr11:65555418-65555468	AG09319	gingival:	n/a
10	chr11:65555418-65555468	ovcar-3	ovarian:	n/a
11	chr11:65555418-65555468	K562	blood:	n/a
12	chr11:65555418-65555468	HRCEpiC	kidney:	n/a
13	chr11:65555418-65555468	GM12892	blood:	n/a
14	chr11:65555418-65555468	HCM	heart:	n/a
15	chr11:65555418-65555468	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:65555418-65555468	HEK293	kidney:	embryo
17	chr11:65555418-65555468	Jurkat	blood:	n/a
18	chr11:65555418-65555468	AG04450	lung:	fetal
19	chr11:65555418-65555468	PFSK-1	brain:	n/a
20	chr11:65555418-65555468	HAEpiC	amniotic membrane:	n/a
21	chr11:65555418-65555468	HepG2	liver:	n/a
22	chr11:65555418-65555468	NHDF-neo	bronchial:	n/a
23	chr11:65555418-65555468	LNCaP	prostate:	n/a
24	chr11:65555418-65555468	SK-N-SH	brain:	n/a
25	chr11:65555418-65555468	BE2_C	brain:	n/a
26	chr11:65555418-65555468	HEEpiC	esophagus:	n/a
27	chr11:65555418-65555468	HMEC	breast:	n/a
28	chr11:65555418-65555468	ProgFib	skin:	n/a
29	chr11:65555418-65555468	NT2-D1	testis:	n/a
30	chr11:65555418-65555468	GM06990	blood:	n/a
31	chr11:65555418-65555468	RPTEC	kidney:	n/a
32	chr11:65555418-65555468	MCF-7	breast:	n/a
33	chr11:65555418-65555468	Caco-2	colon:	n/a
34	chr11:65555418-65555468	NH-A	brain:	n/a
35	chr11:65555418-65555468	AoSMC	blood vessel:	n/a
36	chr11:65555418-65555468	SAEC	small airway:	n/a
37	chr11:65555418-65555468	A549	lung:	n/a
38	chr11:65555418-65555468	HRPEpiC	eye:	n/a
39	chr11:65555418-65555468	HUVEC	blood vessel:	n/a
40	chr11:65555418-65555468	AG09309	skin:	n/a
41	chr11:65555418-65555468	NB4	blood:	n/a
42	chr11:65555418-65555468	SK-N-SH_RA	brain:	n/a
43	chr11:65555418-65555468	H1-hESC	embryonic stem cell:	embryo
44	chr11:65555418-65555468	GM12891	blood:	n/a
45	chr11:65555418-65555468	HCF	heart:	n/a
46	chr11:65555418-65555468	PANC-1	pancreas:	n/a
47	chr11:65555418-65555468	Hela-S3	cervix:	n/a
48	chr11:65555418-65555468	SKMC	muscle:	n/a
49	chr11:65555418-65555468	MCF10A-Er-Src	breast:	n/a
50	chr11:65555418-65555468	ECC-1	luminal epithelium:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
2	chr11:65381719..65383349-chr11:65554196..65557028,2	MCF-7	breast:
3	chr11:65428991..65430722-chr11:65553054..65555889,2	MCF-7	breast:
4	chr11:65553824..65556845-chr11:65623477..65626342,3	K562	blood:
5	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
6	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:
7	chr11:65552282..65556398-chr11:65623209..65626538,5	MCF-7	breast:
8	chr11:65545987..65548666-chr11:65554230..65557097,2	K562	blood:
9	chr11:65546169..65552016-chr11:65555022..65558350,9	K562	blood:

No data

Variant related genes	Relation type
OVOL1	TF binding region
OVOL1	CpG island
ENSG00000173327	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175827	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10896033	0.80[ASN][1000 genomes]
rs10896035	0.80[ASN][1000 genomes]
rs10896037	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896038	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227279	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227281	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227299	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11532071	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11537193	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11600918	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11604451	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11604462	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11604568	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11606947	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225620	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4014192	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4014195	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs479844	0.83[ASN][1000 genomes]
rs4930312	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930313	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56686587	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61895665	0.83[ASN][1000 genomes]
rs6591187	0.80[ASN][1000 genomes]
rs7110576	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7123489	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7952133	0.80[ASN][1000 genomes]
rs948493	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948494	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv897760	chr11:65545306-65559266	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3321581	chr11:65552901-65555749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65551200-65555600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:65553400-65555800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:65553400-65556400	Bivalent Enhancer	Spleen	Spleen
4	chr11:65553400-65557200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr11:65553600-65555600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:65553600-65556000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:65553600-65556000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:65553600-65556000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:65553600-65556000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:65553600-65556000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr11:65553800-65556000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:65553800-65556200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:65554000-65555600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:65554000-65555600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:65554000-65555800	Flanking Bivalent TSS/Enh	Thymus	Thymus
16	chr11:65554000-65556000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr11:65554000-65556000	Enhancers	Lung	lung
18	chr11:65554000-65556200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:65554000-65556200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr11:65554000-65556200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr11:65554200-65555600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:65554200-65555600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:65554200-65555800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:65554400-65555800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:65554400-65556000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
26	chr11:65554400-65556200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr11:65554400-65556800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:65554600-65555600	Bivalent/Poised TSS	Aorta	Aorta
29	chr11:65554600-65555600	Flanking Active TSS	Right Ventricle	heart
30	chr11:65554600-65555800	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr11:65554600-65555800	Active TSS	Small Intestine	intestine
32	chr11:65554600-65556400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr11:65554800-65555600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:65554800-65555600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:65554800-65555800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:65554800-65555800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:65554800-65555800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr11:65554800-65556200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr11:65554800-65556200	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr11:65554800-65556200	Bivalent Enhancer	Liver	Liver
41	chr11:65554800-65556200	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr11:65554800-65556600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr11:65555000-65555600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr11:65555000-65555600	Active TSS	Esophagus	oesophagus
45	chr11:65555000-65555800	Enhancers	Gastric	stomach
46	chr11:65555000-65556000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:65555200-65555600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr11:65555200-65555600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:65555200-65555600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr11:65555200-65555600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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