Variant report

Variant	rs3759049
Chromosome Location	chr11:64530458-64530459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64530431-64530521	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:64526823-64532053	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:64529610-64530850	HepG2	liver:	n/a	n/a
4	TCF12	chr11:64529635-64530898	A549	lung:	n/a	chr11:64530242-64530249 chr11:64529781-64529789 chr11:64530618-64530625
5	POLR2A	chr11:64529591-64531294	HCT-116	colon:	n/a	n/a
6	BACH1	chr11:64529866-64530895	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:64529510-64532036	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:64526696-64538505	K562	blood:	n/a	n/a
9	POLR2A	chr11:64529504-64531351	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:64525013-64542071	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:64529716-64530651	GM18951	blood:	n/a	n/a
12	POLR2A	chr11:64528951-64531116	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:64530384-64530928	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr11:64529537-64530632	A549	lung:	n/a	chr11:64530279-64530288
15	STAT5A	chr11:64529588-64531963	GM12878	blood:	n/a	chr11:64530097-64530120 chr11:64530553-64530565 chr11:64531636-64531644 chr11:64530050-64530062
16	POLR2A	chr11:64528801-64539251	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:64529075-64533137	GM12891	blood:	n/a	n/a
18	HEY1	chr11:64530254-64530616	K562	blood:	n/a	n/a
19	POLR2A	chr11:64528697-64531974	HepG2	liver:	n/a	n/a
20	TEAD4	chr11:64530027-64530690	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:64530412-64530604	A549	lung:	n/a	n/a
22	POLR2A	chr11:64530430-64530914	HUVEC	blood vessel:	n/a	n/a
23	SP4	chr11:64529806-64531148	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:64530397-64530729	A549	lung:	n/a	n/a
25	POLR2A	chr11:64528844-64531928	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:64527305-64538579	K562	blood:	n/a	n/a
27	POLR2A	chr11:64530117-64530898	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:64528860-64533465	PFSK-1	brain:	n/a	n/a
29	RUNX3	chr11:64529600-64530591	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:64529394-64531410	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:64528964-64532627	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:64529618-64532018	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr11:64529571-64531365	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr11:64529591-64530771	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr11:64529567-64532018	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:64529701-64531455	K562	blood:	n/a	n/a
37	ATF2	chr11:64529683-64531029	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUND	chr11:64530114-64530916	H1-hESC	embryonic stem cell:	n/a	n/a
39	NFATC1	chr11:64529538-64531391	GM12878	blood:	n/a	n/a
40	YY1	chr11:64530045-64531268	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:64529567-64531278	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr11:64525521-64533450	A549	lung:	n/a	n/a
43	POLR2A	chr11:64529553-64531970	GM12891	blood:	n/a	n/a
44	POLR2A	chr11:64529633-64531948	K562	blood:	n/a	n/a
45	PML	chr11:64529489-64532141	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:64529557-64532074	Hela-S3	cervix:	n/a	n/a
47	POU2F2	chr11:64529638-64530740	GM12878	blood:	n/a	chr11:64529943-64529957
48	POLR2A	chr11:64529502-64531231	HUVEC	blood vessel:	n/a	n/a
49	GABPA	chr11:64530041-64530654	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:64529543-64530638	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64530011..64532232-chr11:64883213..64884813,2	MCF-7	breast:
2	chr11:64530167..64530949-chr2:200775843..200776712,2	NB4	blood:
3	chr11:64506462..64508935-chr11:64529623..64531962,2	MCF-7	breast:
4	chr11:64529809..64532784-chr22:39706393..39708721,2	K562	blood:
5	chr11:64502342..64504010-chr11:64527963..64530574,2	MCF-7	breast:
6	chr11:64530374..64531329-chr20:44563220..44563880,2	NB4	blood:
7	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R5B-6	chr11:64529676-64530646	NONHSAT022016

No data

Variant related genes	Relation type
PYGM	TF binding region
ENSG00000255173	Chromatin interaction
ENSG00000232732	Chromatin interaction
ENSG00000178074	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000100982	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10897525	1.00[EUR][1000 genomes]
rs2285341	1.00[EUR][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:126 , 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	chr11:64526000-64530600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr11:64526200-64531200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:64526600-64530600	Enhancers	K562	blood
5	chr11:64527200-64532000	Weak transcription	Stomach Mucosa	stomach
6	chr11:64527400-64531000	Enhancers	Brain Anterior Caudate	brain
7	chr11:64527400-64531800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:64527400-64539600	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr11:64527600-64531800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr11:64527600-64534600	Weak transcription	Fetal Brain Male	brain
11	chr11:64528000-64531200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:64528000-64536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:64528200-64533400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:64528200-64543600	Strong transcription	Fetal Intestine Small	intestine
17	chr11:64528400-64530600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:64528400-64530600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:64528400-64530800	Weak transcription	HSMMtube	muscle
20	chr11:64528400-64531600	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr11:64528400-64531600	Weak transcription	HepG2	liver
22	chr11:64528600-64530600	Weak transcription	Psoas Muscle	Psoas
23	chr11:64528600-64531400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:64528800-64530800	Strong transcription	Fetal Stomach	stomach
25	chr11:64528800-64531800	Weak transcription	Small Intestine	intestine
26	chr11:64528800-64532200	Weak transcription	Ovary	ovary
27	chr11:64529000-64533400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:64529200-64531800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:64529400-64531000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:64529400-64531200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:64529400-64532600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:64529400-64532600	Genic enhancers	Spleen	Spleen
33	chr11:64529600-64530600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:64529600-64530600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:64529600-64530800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:64529600-64531000	Strong transcription	Gastric	stomach
37	chr11:64529600-64531200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:64529600-64531400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:64529600-64531400	Genic enhancers	Esophagus	oesophagus
40	chr11:64529600-64531800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:64529600-64532800	Genic enhancers	NHEK	skin
42	chr11:64529600-64533000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:64529600-64533200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:64529600-64533600	Genic enhancers	Primary hematopoietic stem cells	blood
45	chr11:64529600-64534800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:64529600-64543200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:64529800-64530600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:64529800-64530600	Enhancers	Brain Angular Gyrus	brain
49	chr11:64529800-64530800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr11:64529800-64531000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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