Variant report

Variant	rs11827177
Chromosome Location	chr11:62558117-62558118
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62556198-62559952	K562	blood:	n/a	n/a
2	POLR2A	chr11:62557929-62560314	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:62556002-62560459	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:62555834-62560161	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:62557924-62558306	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:62558089-62560256	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:62556088-62560419	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:62557888-62560058	GM12891	blood:	n/a	n/a
9	POLR2A	chr11:62558078-62559785	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:62558000-62558353	HCT-116	colon:	n/a	n/a
11	POLR2A	chr11:62557813-62559643	K562	blood:	n/a	n/a
12	HCFC1	chr11:62557607-62560373	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:62553609-62560331	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr11:62557980-62560245	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:62557956-62560248	GM12892	blood:	n/a	n/a
16	ZNF263	chr11:62556423-62558158	HEK293-T-REx	kidney:	n/a	chr11:62556618-62556639
17	POLR2A	chr11:62557903-62560344	GM12892	blood:	n/a	n/a
18	PML	chr11:62557998-62558480	K562	blood:	n/a	n/a
19	POLR2A	chr11:62553660-62560182	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:62557790-62560311	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:62557901-62559982	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:62557753-62560129	MCF-7	breast:	n/a	n/a
23	POLR2A	chr11:62557309-62560086	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr11:62558116-62558184	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:62556016-62558590	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:62557818-62560222	K562	blood:	n/a	n/a
27	POLR2A	chr11:62557931-62558849	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:62556226-62560277	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62557524..62562234-chr11:62648109..62651861,7	MCF-7	breast:
2	chr11:62552943..62561747-chr11:62616572..62625876,31	K562	blood:
3	chr11:62472932..62477098-chr11:62554264..62558225,4	K562	blood:
4	chr11:62556595..62558380-chr6:30583223..30584757,2	MCF-7	breast:
5	chr11:62510069..62512152-chr11:62557346..62558937,2	MCF-7	breast:
6	chr11:62472165..62476250-chr11:62556778..62559261,3	MCF-7	breast:
7	chr11:62445382..62446907-chr11:62557703..62559578,2	MCF-7	breast:
8	chr11:62551512..62560180-chr11:62645894..62651775,24	K562	blood:
9	chr11:62493399..62495711-chr11:62557116..62560214,4	K562	blood:
10	chr11:62431214..62433526-chr11:62556921..62559343,2	MCF-7	breast:
11	chr11:62494172..62498821-chr11:62557548..62561455,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269176	TF binding region
ENSG00000162222	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000206597	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11568627	1.00[CHB][hapmap]
rs12362741	1.00[CHB][hapmap]
rs755246	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong 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	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv897624	chr11:62549593-62563341	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 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	chr11:62555600-62558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:62555600-62558200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:62555600-62558200	Weak transcription	Psoas Muscle	Psoas
4	chr11:62555600-62558400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:62555800-62558200	Genic enhancers	A549	lung
6	chr11:62556000-62558200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:62556000-62558200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr11:62556000-62558200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:62556000-62558200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:62556000-62558200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:62556000-62558200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:62556000-62558200	Genic enhancers	Stomach Smooth Muscle	stomach
13	chr11:62556000-62558200	Genic enhancers	Monocytes-CD14+_RO01746	blood
14	chr11:62556000-62558400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:62556000-62558400	Genic enhancers	Fetal Thymus	thymus
16	chr11:62556200-62558200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:62556200-62558200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:62556200-62558200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:62556200-62558200	Genic enhancers	Brain Germinal Matrix	brain
20	chr11:62556200-62558200	Genic enhancers	Fetal Muscle Leg	muscle
21	chr11:62556200-62558200	Genic enhancers	NHDF-Ad	bronchial
22	chr11:62556200-62558400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr11:62556200-62558400	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr11:62556200-62558400	Genic enhancers	Brain Cingulate Gyrus	brain
25	chr11:62556200-62558400	Genic enhancers	Fetal Intestine Large	intestine
26	chr11:62556200-62558400	Genic enhancers	Spleen	Spleen
27	chr11:62556200-62558600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:62556200-62558600	Genic enhancers	Placenta	Placenta
29	chr11:62556400-62558200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:62556400-62558200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:62556400-62558200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:62556400-62558200	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:62556400-62558200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:62556400-62558200	Enhancers	Fetal Heart	heart
35	chr11:62556400-62558200	Genic enhancers	Fetal Intestine Small	intestine
36	chr11:62556400-62558200	Genic enhancers	Gastric	stomach
37	chr11:62556400-62558200	Strong transcription	Lung	lung
38	chr11:62556400-62558200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:62556400-62558200	Strong transcription	Thymus	Thymus
40	chr11:62556400-62558400	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr11:62556400-62558400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:62556400-62558400	Weak transcription	Fetal Brain Male	brain
43	chr11:62556400-62558400	Genic enhancers	Pancreas	Pancrea
44	chr11:62556400-62558400	Genic enhancers	Right Ventricle	heart
45	chr11:62556400-62558400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:62556400-62558600	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:62556400-62558600	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr11:62556400-62560200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:62556600-62558200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:62556600-62558200	Genic enhancers	Adipose Nuclei	Adipose

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