Variant report

Variant	rs484886
Chromosome Location	chr11:64536866-64536867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64534426-64538727	GM12892	blood:	n/a	n/a
2	CTCF	chr11:64536800-64536950	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:64536624-64537218	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:64536362-64538533	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:64536134-64538786	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:64536331-64538107	K562	blood:	n/a	n/a
7	POLR2A	chr11:64534476-64538772	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:64526696-64538505	K562	blood:	n/a	n/a
9	POLR2A	chr11:64534486-64538674	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:64525013-64542071	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:64536199-64538620	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:64533761-64543234	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:64528801-64539251	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:64536077-64538227	K562	blood:	n/a	n/a
15	POLR2A	chr11:64536782-64537211	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr11:64536854-64537050	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:64527305-64538579	K562	blood:	n/a	n/a
18	POLR2A	chr11:64533764-64538696	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:64536405-64538121	HL-60	blood:	n/a	n/a
20	POLR2A	chr11:64533849-64538612	A549	lung:	n/a	n/a
21	POLR2A	chr11:64535138-64538183	K562	blood:	n/a	n/a
22	POLR2A	chr11:64536656-64536953	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:64536452-64537072	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:64528977-64538125	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:64536671-64537060	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:64536641-64537089	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:64534497-64538573	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:64536650-64536949	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:64536306-64538150	K562	blood:	n/a	n/a
30	POLR2A	chr11:64534466-64538682	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:64533767-64538604	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr11:64534811-64538164	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:64534397-64541511	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:64534646-64538654	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:64534449-64538581	GM12891	blood:	n/a	n/a
36	POLR2A	chr11:64536245-64538151	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:64536334-64538197	HL-60	blood:	n/a	n/a
38	POLR2A	chr11:64536222-64538254	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr11:64536377-64537204	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:64535798-64537490	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:64527091-64539806	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:64534461-64538676	K562	blood:	n/a	n/a
43	POLR2A	chr11:64536582-64538092	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:64534517-64538055	Hela-S3	cervix:	n/a	n/a
45	HEY1	chr11:64536585-64538569	K562	blood:	n/a	n/a
46	POLR2A	chr11:64536744-64537422	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64478005..64481824-chr11:64534394..64538447,4	K562	blood:
2	chr11:64536552..64539187-chr11:64882695..64885248,2	MCF-7	breast:
3	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:

No data

Variant related genes	Relation type
SF1	TF binding region
ENSG00000174276	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000110076	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1783523	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs505985	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs523964	0.90[AFR][1000 genomes]
rs534221	0.88[YRI][hapmap]
rs540012	1.00[AMR][1000 genomes]
rs556356	0.88[YRI][hapmap]
rs561158	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs575375	0.84[AFR][1000 genomes]
rs9285810	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr11:64527400-64539600	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr11:64528200-64543600	Strong transcription	Fetal Intestine Small	intestine
3	chr11:64529600-64543200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:64529800-64537800	Genic enhancers	Dnd41	blood
5	chr11:64529800-64539400	Strong transcription	Liver	Liver
6	chr11:64529800-64543200	Strong transcription	Fetal Brain Female	brain
7	chr11:64529800-64543600	Strong transcription	Fetal Lung	lung
8	chr11:64529800-64543600	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr11:64530000-64541200	Strong transcription	Aorta	Aorta
10	chr11:64530000-64543400	Strong transcription	Fetal Intestine Large	intestine
11	chr11:64530200-64540200	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:64530400-64543000	Strong transcription	Hela-S3	cervix
13	chr11:64530400-64544200	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:64530600-64544400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:64531400-64538600	Strong transcription	Esophagus	oesophagus
16	chr11:64531400-64542600	Strong transcription	Gastric	stomach
17	chr11:64531400-64543600	Strong transcription	NHDF-Ad	bronchial
18	chr11:64531600-64540400	Strong transcription	HepG2	liver
19	chr11:64531600-64542800	Strong transcription	K562	blood
20	chr11:64531800-64539200	Strong transcription	Pancreas	Pancrea
21	chr11:64531800-64539400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:64531800-64539600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:64531800-64540400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:64531800-64541000	Strong transcription	Small Intestine	intestine
25	chr11:64532000-64539000	Strong transcription	HSMMtube	muscle
26	chr11:64532000-64539600	Strong transcription	Adipose Nuclei	Adipose
27	chr11:64532000-64539800	Strong transcription	Stomach Mucosa	stomach
28	chr11:64532000-64542800	Strong transcription	Brain Germinal Matrix	brain
29	chr11:64532000-64543000	Weak transcription	Right Atrium	heart
30	chr11:64532000-64543600	Strong transcription	HSMM	muscle
31	chr11:64532000-64543800	Strong transcription	Osteobl	bone
32	chr11:64532000-64544000	Strong transcription	Colonic Mucosa	Colon
33	chr11:64532000-64544000	Strong transcription	Fetal Stomach	stomach
34	chr11:64532200-64539200	Strong transcription	Brain Hippocampus Middle	brain
35	chr11:64532200-64540200	Strong transcription	Ovary	ovary
36	chr11:64532400-64538800	Strong transcription	Fetal Kidney	kidney
37	chr11:64532400-64543400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:64532400-64543600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr11:64532400-64543600	Strong transcription	NH-A	brain
40	chr11:64532400-64543800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:64532400-64544000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:64532600-64538800	Genic enhancers	Primary B cells from cord blood	blood
43	chr11:64532600-64539200	Strong transcription	HUVEC	blood vessel
44	chr11:64532600-64540200	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:64532600-64540400	Strong transcription	NHLF	lung
46	chr11:64532600-64543600	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr11:64532600-64544200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:64532600-64544400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:64532800-64537000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:64532800-64539400	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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