Variant report

Variant	rs73494126
Chromosome Location	chr11:63655398-63655399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr11:63654935-63655603	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr11:63655037-63655419	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr11:63655015-63655479	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr11:63654891-63655536	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:63655032-63656617	HepG2	liver:	n/a	n/a
6	MAX	chr11:63654901-63656419	NB4	blood:	n/a	n/a
7	TEAD4	chr11:63655009-63656251	K562	blood:	n/a	chr11:63655606-63655615
8	MAX	chr11:63655070-63655453	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr11:63655047-63655466	K562	blood:	n/a	n/a
10	NR2F2	chr11:63655375-63656373	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63655397-63655447	Jurkat	blood:	n/a
2	chr11:63655397-63655447	AG09309	skin:	n/a
3	chr11:63655397-63655447	HIPEpiC	eye:	n/a
4	chr11:63655397-63655447	HepG2	liver:	n/a
5	chr11:63655397-63655447	T-47D	breast:	n/a
6	chr11:63655397-63655447	AG04450	lung:	fetal
7	chr11:63655397-63655447	SK-N-SH_RA	brain:	n/a
8	chr11:63655397-63655447	AoSMC	blood vessel:	n/a
9	chr11:63655397-63655447	SK-N-MC	brain:	n/a
10	chr11:63655397-63655447	HEEpiC	esophagus:	n/a
11	chr11:63655397-63655447	LNCaP	prostate:	n/a
12	chr11:63655397-63655447	HMEC	breast:	n/a
13	chr11:63655397-63655447	GM19239	blood:	n/a
14	chr11:63655397-63655447	HAEpiC	amniotic membrane:	n/a
15	chr11:63655397-63655447	AG09319	gingival:	n/a
16	chr11:63655397-63655447	A549	lung:	n/a
17	chr11:63655397-63655447	HCF	heart:	n/a
18	chr11:63655397-63655447	BE2_C	brain:	n/a
19	chr11:63655397-63655447	H1-hESC	embryonic stem cell:	embryo
20	chr11:63655397-63655447	MCF10A-Er-Src	breast:	n/a
21	chr11:63655397-63655447	MCF-7	breast:	n/a
22	chr11:63655397-63655447	SAEC	small airway:	n/a
23	chr11:63655397-63655447	SKMC	muscle:	n/a
24	chr11:63655397-63655447	NT2-D1	testis:	n/a
25	chr11:63655397-63655447	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:63655397-63655447	IMR90	lung:	fetal
27	chr11:63655397-63655447	K562	blood:	n/a
28	chr11:63655397-63655447	HL-60	blood:	n/a
29	chr11:63655397-63655447	NB4	blood:	n/a
30	chr11:63655397-63655447	HRPEpiC	eye:	n/a
31	chr11:63655397-63655447	GM06990	blood:	n/a
32	chr11:63655397-63655447	NH-A	brain:	n/a
33	chr11:63655397-63655447	HEK293	kidney:	embryo
34	chr11:63655397-63655447	HNPCEpiC	eye:	n/a
35	chr11:63655397-63655447	U87	brain:	n/a
36	chr11:63655397-63655447	BJ	skin:	n/a
37	chr11:63655397-63655447	AG04449	skin:	fetal
38	chr11:63655397-63655447	NHDF-neo	bronchial:	n/a
39	chr11:63655397-63655447	Hepatocyte	liver:	n/a
40	chr11:63655397-63655447	PFSK-1	brain:	n/a
41	chr11:63655397-63655447	HCPEpiC	choroid plexus:	n/a
42	chr11:63655397-63655447	NHBE	bronchial:	n/a
43	chr11:63655397-63655447	HCM	heart:	n/a
44	chr11:63655397-63655447	Hela-S3	cervix:	n/a
45	chr11:63655397-63655447	AG10803	skin:	n/a
46	chr11:63655397-63655447	PrEC	prostate:	n/a
47	chr11:63655397-63655447	GM12892	blood:	n/a
48	chr11:63655397-63655447	RPTEC	kidney:	n/a
49	chr11:63655397-63655447	Caco-2	colon:	n/a
50	chr11:63655397-63655447	HRCEpiC	kidney:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
2	chr11:63639315..63642041-chr11:63653506..63655587,2	K562	blood:
3	chr11:63654599..63657425-chr11:63952225..63954812,2	K562	blood:
4	chr11:63653210..63656003-chr11:63665435..63667701,2	MCF-7	breast:
5	chr11:63604628..63605373-chr11:63655293..63655881,2	K562	blood:
6	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARK2	TF binding region
MARK2	CpG island
ENSG00000168439	Chromatin interaction
ENSG00000110583	Chromatin interaction

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

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

rs_ID	r²[population]
rs11825727	1.00[AMR][1000 genomes]
rs57058815	1.00[AMR][1000 genomes]
rs58822345	1.00[AMR][1000 genomes]
rs59054123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59146342	1.00[AMR][1000 genomes]
rs60725842	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61184552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125886	1.00[AMR][1000 genomes]
rs73492260	1.00[AMR][1000 genomes]
rs73492262	1.00[AMR][1000 genomes]
rs73492266	1.00[AMR][1000 genomes]
rs73492273	1.00[AMR][1000 genomes]
rs73492274	1.00[AMR][1000 genomes]
rs73492287	1.00[AMR][1000 genomes]
rs73492297	1.00[AMR][1000 genomes]
rs73494110	1.00[AMR][1000 genomes]
rs73494112	1.00[AMR][1000 genomes]
rs73494128	1.00[AMR][1000 genomes]
rs73494144	1.00[AMR][1000 genomes]
rs73494160	1.00[AMR][1000 genomes]
rs73494167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496034	1.00[AMR][1000 genomes]
rs73496075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496090	1.00[AMR][1000 genomes]
rs73496096	1.00[AMR][1000 genomes]
rs73496099	1.00[AMR][1000 genomes]
rs73496100	1.00[AMR][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr11:63643600-63655800	Weak transcription	Aorta	Aorta
2	chr11:63650600-63655600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:63650800-63656000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:63650800-63657600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:63651200-63655600	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:63652000-63659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:63652200-63659400	Weak transcription	Fetal Brain Female	brain
8	chr11:63653600-63655400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:63653600-63655600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:63653600-63655800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:63653800-63655600	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:63653800-63655600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:63653800-63655600	Enhancers	Left Ventricle	heart
14	chr11:63653800-63656000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:63653800-63656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:63654200-63655600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:63654200-63655600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:63654200-63656000	Enhancers	Brain Hippocampus Middle	brain
19	chr11:63654200-63656000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:63654200-63656400	Enhancers	A549	lung
21	chr11:63654200-63658000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:63654200-63658400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:63654400-63655400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:63654400-63655400	Enhancers	Small Intestine	intestine
25	chr11:63654400-63655600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:63654400-63655600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:63654400-63655600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:63654400-63655600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:63654400-63655600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:63654400-63655600	Enhancers	Adipose Nuclei	Adipose
31	chr11:63654400-63655600	Enhancers	Liver	Liver
32	chr11:63654400-63655600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:63654400-63655600	Enhancers	Fetal Intestine Large	intestine
34	chr11:63654400-63655600	Enhancers	Pancreas	Pancrea
35	chr11:63654400-63655600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:63654400-63655600	Enhancers	Stomach Mucosa	stomach
37	chr11:63654400-63655600	Enhancers	Stomach Smooth Muscle	stomach
38	chr11:63654400-63655800	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr11:63654400-63655800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:63654400-63655800	Enhancers	Right Ventricle	heart
41	chr11:63654400-63656000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:63654400-63656000	Enhancers	Colon Smooth Muscle	Colon
43	chr11:63654400-63656000	Enhancers	Fetal Heart	heart
44	chr11:63654400-63656200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:63654400-63656200	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:63654400-63656200	Enhancers	Spleen	Spleen
47	chr11:63654400-63656400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:63654400-63656600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:63654400-63656800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr11:63654400-63656800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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