Variant report

Variant	rs4930281
Chromosome Location	chr11:64629818-64629819
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	POLR2A	chr11:64629387-64634963	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:64629559-64634892	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:64629711-64631304	U87	brain:	n/a	n/a
4	POLR2A	chr11:64615614-64641325	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:64628429-64635030	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:64629711-64634024	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64628928..64631911-chr11:64900094..64902138,2	MCF-7	breast:

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000162298	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10897533	0.99[ASN][1000 genomes]
rs1211284	0.93[ASN][1000 genomes]
rs12573	0.95[ASN][1000 genomes]
rs12801172	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17146413	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007521	0.99[ASN][1000 genomes]
rs2077026	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741391	0.97[ASN][1000 genomes]
rs3893108	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3937000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41381745	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930280	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930685	1.00[ASN][1000 genomes]
rs57851864	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs589556	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs602347	0.91[ASN][1000 genomes]
rs607569	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620066	0.99[ASN][1000 genomes]
rs621608	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs622611	0.92[ASN][1000 genomes]
rs635722	1.00[ASN][1000 genomes]
rs641623	0.92[ASN][1000 genomes]
rs649208	0.95[ASN][1000 genomes]
rs653225	0.96[ASN][1000 genomes]
rs654580	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656982	0.89[ASN][1000 genomes]
rs7126744	1.00[ASN][1000 genomes]
rs7926812	1.00[ASN][1000 genomes]
rs7927560	0.97[ASN][1000 genomes]
rs7943238	0.94[ASN][1000 genomes]
rs7944276	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952306	0.99[ASN][1000 genomes]
rs7952567	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
5	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
11	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 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	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64613000-64630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:64619200-64630200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:64619800-64632400	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr11:64620800-64630200	Weak transcription	Fetal Kidney	kidney
6	chr11:64622800-64630400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:64623000-64630000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:64623200-64630800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:64623200-64633000	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:64623400-64630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:64624200-64630600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:64625200-64630200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:64625400-64634200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:64626400-64630000	Weak transcription	NH-A	brain
15	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:64626600-64631000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:64626800-64630000	Weak transcription	Fetal Heart	heart
18	chr11:64627400-64633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:64627600-64630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:64627600-64630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:64627600-64630600	Weak transcription	Pancreas	Pancrea
22	chr11:64627600-64630600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:64627600-64633200	Enhancers	Fetal Thymus	thymus
24	chr11:64627800-64630000	Weak transcription	Stomach Mucosa	stomach
25	chr11:64627800-64630000	Weak transcription	HMEC	breast
26	chr11:64627800-64630400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:64627800-64630400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:64627800-64630400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:64627800-64630400	Weak transcription	Aorta	Aorta
30	chr11:64627800-64630400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:64627800-64630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:64627800-64630600	Weak transcription	Gastric	stomach
33	chr11:64627800-64630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:64627800-64631600	Enhancers	Dnd41	blood
35	chr11:64627800-64633200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:64628000-64630000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:64628000-64630000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:64628000-64630400	Weak transcription	Esophagus	oesophagus
39	chr11:64628000-64631000	Enhancers	Thymus	Thymus
40	chr11:64628000-64631400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:64628000-64631600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:64628000-64632000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:64628400-64630400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:64628400-64630600	Enhancers	Spleen	Spleen
45	chr11:64628400-64633200	Enhancers	Right Atrium	heart
46	chr11:64628600-64630600	Enhancers	Adipose Nuclei	Adipose
47	chr11:64628600-64631000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:64628600-64631000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:64628600-64633200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:64628600-64633200	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links