Variant report

Variant	rs588139
Chromosome Location	chr11:64531514-64531515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64526823-64532053	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:64530975-64531587	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:64529510-64532036	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:64526696-64538505	K562	blood:	n/a	n/a
5	POLR2A	chr11:64525013-64542071	HepG2	liver:	n/a	n/a
6	MAFK	chr11:64531465-64531573	HepG2	liver:	n/a	n/a
7	STAT5A	chr11:64529588-64531963	GM12878	blood:	n/a	chr11:64530097-64530120 chr11:64530553-64530565 chr11:64531636-64531644 chr11:64530050-64530062
8	POLR2A	chr11:64528801-64539251	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:64529075-64533137	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:64528697-64531974	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:64531457-64531670	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr11:64528844-64531928	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:64527305-64538579	K562	blood:	n/a	n/a
14	POLR2A	chr11:64528860-64533465	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:64528964-64532627	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:64529618-64532018	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr11:64529567-64532018	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:64525521-64533450	A549	lung:	n/a	n/a
19	POLR2A	chr11:64529553-64531970	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:64529633-64531948	K562	blood:	n/a	n/a
21	PML	chr11:64529489-64532141	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:64529557-64532074	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:64529650-64531976	K562	blood:	n/a	n/a
24	ELF1	chr11:64530938-64531745	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:64528977-64538125	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:64529097-64532202	U87	brain:	n/a	n/a
27	POLR2A	chr11:64527082-64533748	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:64529547-64532067	K562	blood:	n/a	n/a
29	POLR2A	chr11:64529607-64532341	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:64529490-64533356	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:64529491-64532624	GM12891	blood:	n/a	n/a
32	CTBP2	chr11:64530015-64531584	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:64529652-64531925	GM19193	blood:	n/a	n/a
34	POLR2A	chr11:64527460-64534329	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:64529649-64532669	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:64526410-64533727	GM12891	blood:	n/a	n/a
37	POLR2A	chr11:64526666-64533511	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr11:64529502-64532480	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:64527662-64531981	PFSK-1	brain:	n/a	n/a
40	POU2F2	chr11:64531402-64531985	GM12878	blood:	n/a	chr11:64531532-64531544
41	POLR2A	chr11:64529563-64531917	H1-hESC	embryonic stem cell:	n/a	n/a
42	MTA3	chr11:64529485-64532434	GM12878	blood:	n/a	n/a
43	MAFF	chr11:64531377-64531537	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:64529612-64531870	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr11:64528905-64531592	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:64529626-64532033	K562	blood:	n/a	n/a
47	POLR2A	chr11:64529493-64533360	GM12891	blood:	n/a	n/a
48	POLR2A	chr11:64528903-64531809	U87	brain:	n/a	n/a
49	POLR2A	chr11:64529652-64532025	GM18505	blood:	n/a	n/a
50	BCL3	chr11:64529544-64531888	K562	blood:	n/a	chr11:64530279-64530288

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64530011..64532232-chr11:64883213..64884813,2	MCF-7	breast:
2	chr11:64456116..64458065-chr11:64530608..64532539,2	K562	blood:
3	chr11:64506462..64508935-chr11:64529623..64531962,2	MCF-7	breast:
4	chr11:64529809..64532784-chr22:39706393..39708721,2	K562	blood:
5	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:

No data

Variant related genes	Relation type
PYGM	TF binding region
ENSG00000068831	Chromatin interaction
ENSG00000255173	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs493573	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs583901	1.00[YRI][hapmap]
rs607969	1.00[ASW][hapmap]
rs621723	1.00[AFR][1000 genomes]
rs633380	1.00[AFR][1000 genomes]
rs637732	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs665362	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	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
4	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	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
6	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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	82 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
14	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	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
18	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
19	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 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	chr11:64525400-64533400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:64527200-64532000	Weak transcription	Stomach Mucosa	stomach
3	chr11:64527400-64531800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:64527400-64539600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr11:64527600-64531800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr11:64527600-64534600	Weak transcription	Fetal Brain Male	brain
7	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Leg	muscle
9	chr11:64528000-64536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:64528200-64533400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:64528200-64543600	Strong transcription	Fetal Intestine Small	intestine
12	chr11:64528400-64531600	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr11:64528400-64531600	Weak transcription	HepG2	liver
14	chr11:64528800-64531800	Weak transcription	Small Intestine	intestine
15	chr11:64528800-64532200	Weak transcription	Ovary	ovary
16	chr11:64529000-64533400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr11:64529200-64531800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:64529400-64532600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:64529400-64532600	Genic enhancers	Spleen	Spleen
20	chr11:64529600-64531800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:64529600-64532800	Genic enhancers	NHEK	skin
22	chr11:64529600-64533000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:64529600-64533200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:64529600-64533600	Genic enhancers	Primary hematopoietic stem cells	blood
25	chr11:64529600-64534800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:64529600-64543200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:64529800-64531800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:64529800-64531800	Genic enhancers	Pancreas	Pancrea
29	chr11:64529800-64532000	Genic enhancers	Adipose Nuclei	Adipose
30	chr11:64529800-64532000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
31	chr11:64529800-64532200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:64529800-64532200	Genic enhancers	Brain Hippocampus Middle	brain
33	chr11:64529800-64532400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:64529800-64532400	Genic enhancers	Fetal Kidney	kidney
35	chr11:64529800-64532600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
36	chr11:64529800-64532600	Genic enhancers	HUVEC	blood vessel
37	chr11:64529800-64532800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:64529800-64532800	Genic enhancers	Rectal Mucosa Donor 29	rectum
39	chr11:64529800-64532800	Genic enhancers	A549	lung
40	chr11:64529800-64533000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:64529800-64533000	Genic enhancers	Left Ventricle	heart
42	chr11:64529800-64533000	Genic enhancers	Right Ventricle	heart
43	chr11:64529800-64533200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:64529800-64533200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:64529800-64533200	Enhancers	Fetal Heart	heart
46	chr11:64529800-64533200	Genic enhancers	HMEC	breast
47	chr11:64529800-64533400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:64529800-64534000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:64529800-64536000	Genic enhancers	Fetal Thymus	thymus
50	chr11:64529800-64537800	Genic enhancers	Dnd41	blood

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