Variant report

Variant	rs11553147
Chromosome Location	chr11:62476525-62476526
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62476508-62476534	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:62475808-62476555	K562	blood:	n/a	n/a
3	POLR2A	chr11:62476512-62477579	HUVEC	blood vessel:	n/a	n/a
4	CHD1	chr11:62476476-62476616	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:62476400-62476635	MCF-7	breast:	n/a	n/a
6	TBP	chr11:62476460-62476612	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:62476303-62478528	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:62476286-62477966	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:62476046-62478114	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:62476213-62477723	U87	brain:	n/a	n/a
11	REST	chr11:62476197-62477905	H1-neurons	neurons:	n/a	chr11:62477505-62477515
12	PML	chr11:62476377-62477962	GM12878	blood:	n/a	n/a
13	MXI1	chr11:62476331-62477568	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:62476474-62478142	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:62476348-62478064	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:62476401-62477364	Raji	blood:	n/a	n/a
17	YY1	chr11:62476180-62478009	H1-hESC	embryonic stem cell:	n/a	chr11:62477717-62477727 chr11:62477716-62477725 chr11:62477705-62477727 chr11:62477193-62477210
18	POLR2A	chr11:62476094-62477964	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:62475997-62477949	MCF-7	breast:	n/a	n/a
20	NFATC1	chr11:62476310-62477776	GM12878	blood:	n/a	n/a
21	ATF2	chr11:62476508-62477484	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:62476215-62477667	H1-neurons	neurons:	n/a	n/a
23	YY1	chr11:62476381-62478012	GM12892	blood:	n/a	chr11:62477717-62477727 chr11:62477716-62477725 chr11:62477705-62477727 chr11:62477193-62477210
24	POLR2A	chr11:62475873-62478492	U87	brain:	n/a	n/a
25	MTA3	chr11:62475713-62477988	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:62476150-62477733	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:62476078-62478129	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr11:62476102-62478533	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:62476389-62478089	GM12891	blood:	n/a	n/a
30	POLR2A	chr11:62476318-62478086	H1-hESC	embryonic stem cell:	n/a	n/a
31	RUNX3	chr11:62476312-62477840	GM12878	blood:	n/a	n/a
32	YY1	chr11:62476494-62478007	SK-N-SH_RA	brain:	n/a	chr11:62477717-62477727 chr11:62477716-62477725 chr11:62477705-62477727 chr11:62477193-62477210
33	POLR2A	chr11:62476227-62478015	GM12891	blood:	n/a	n/a
34	YY1	chr11:62476418-62477988	SK-N-SH	brain:	n/a	chr11:62477717-62477727 chr11:62477716-62477725 chr11:62477705-62477727 chr11:62477193-62477210
35	MTA3	chr11:62476171-62477340	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:62476436-62477913	HUVEC	blood vessel:	n/a	n/a
37	NRF1	chr11:62476509-62477165	GM12878	blood:	n/a	n/a
38	STAT5A	chr11:62475964-62478084	GM12878	blood:	n/a	chr11:62477571-62477582 chr11:62476132-62476140
39	POLR2A	chr11:62476350-62478438	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr11:62476218-62477741	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr11:62472775-62476654	K562	blood:	n/a	n/a
42	POLR2A	chr11:62476257-62478294	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:62475815-62477787	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr11:62475873-62478575	U87	brain:	n/a	n/a
45	POLR2A	chr11:62474621-62477898	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:62476490-62477848	GM12891	blood:	n/a	n/a
47	POLR2A	chr11:62473118-62478469	HepG2	liver:	n/a	n/a
48	POLR2A	chr11:62476431-62478114	HL-60	blood:	n/a	n/a
49	SIN3AK20	chr11:62476486-62477766	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:62474793-62476670	Hela-S3	cervix:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62472932..62477098-chr11:62554264..62558225,4	K562	blood:
2	chr11:62474385..62478486-chr11:62621122..62625313,5	MCF-7	breast:
3	chr11:62430865..62437145-chr11:62471927..62479051,19	K562	blood:
4	chr11:62459638..62461949-chr11:62475731..62477777,2	K562	blood:
5	chr11:62474564..62476753-chr11:62571468..62573235,2	MCF-7	breast:
6	chr11:62366689..62370631-chr11:62475430..62478411,3	MCF-7	breast:
7	chr11:62438216..62442259-chr11:62472089..62478443,13	MCF-7	breast:
8	chr11:62473515..62476746-chr11:62603608..62610455,10	K562	blood:
9	chr11:62472417..62476831-chr11:62520357..62523886,4	MCF-7	breast:
10	chr11:62472026..62478669-chr11:62605440..62610848,12	MCF-7	breast:
11	chr11:62472130..62477497-chr11:62520063..62523778,7	MCF-7	breast:
12	chr11:62474806..62478433-chr11:62571000..62575830,4	MCF-7	breast:
13	chr11:62386924..62390837-chr11:62476081..62478663,3	K562	blood:
14	chr11:62475707..62478819-chr11:62598237..62600033,3	MCF-7	breast:
15	chr11:62366089..62368766-chr11:62475317..62477241,2	MCF-7	breast:
16	chr11:62444508..62449947-chr11:62472248..62477977,7	K562	blood:
17	chr11:62436317..62438708-chr11:62474733..62477422,2	MCF-7	breast:
18	chr11:62432560..62437098-chr11:62470787..62476744,13	MCF-7	breast:
19	chr11:62432133..62436222-chr11:62470338..62477424,11	MCF-7	breast:
20	chr11:62416571..62422086-chr11:62473445..62479277,7	MCF-7	breast:
21	chr11:62445054..62448802-chr11:62471640..62476934,8	MCF-7	breast:
22	chr11:62461222..62463498-chr11:62475273..62476885,2	MCF-7	breast:
23	chr11:62412420..62415681-chr11:62473795..62477393,4	MCF-7	breast:
24	chr11:62444596..62448445-chr11:62472565..62478023,8	MCF-7	breast:

No data

Variant related genes	Relation type
BSCL2	TF binding region
ENSG00000185475	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000269463	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000162191	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2276296	1.00[LWK][hapmap]
rs669760	1.00[LWK][hapmap]
rs7122541	1.00[LWK][hapmap]
rs755246	1.00[LWK][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	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
6	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
7	nsv348	chr11:62474450-62519712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 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	chr11:62473200-62477400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:62474000-62476800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr11:62474200-62478600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:62474600-62476800	Genic enhancers	K562	blood
5	chr11:62474800-62476600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:62475000-62476800	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr11:62475200-62476600	Flanking Active TSS	Fetal Brain Female	brain
8	chr11:62475400-62476600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:62475400-62476600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr11:62475600-62476600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:62475600-62477000	Weak transcription	Hela-S3	cervix
12	chr11:62475800-62476600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr11:62475800-62476600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:62475800-62476600	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr11:62475800-62476600	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr11:62475800-62476600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:62475800-62476800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:62475800-62476800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr11:62475800-62477000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:62475800-62477000	Flanking Active TSS	Dnd41	blood
21	chr11:62475800-62477800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:62475800-62477800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:62475800-62478200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr11:62476000-62476600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:62476000-62476600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:62476000-62476600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:62476000-62476600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:62476000-62476600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr11:62476000-62476600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:62476000-62476600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:62476000-62476800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:62476000-62476800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:62476000-62476800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr11:62476000-62476800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:62476000-62476800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:62476000-62476800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr11:62476000-62476800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:62476000-62476800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:62476000-62476800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr11:62476000-62476800	Flanking Active TSS	Colonic Mucosa	Colon
41	chr11:62476000-62476800	Flanking Active TSS	Fetal Lung	lung
42	chr11:62476000-62476800	Flanking Active TSS	Fetal Thymus	thymus
43	chr11:62476000-62476800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:62476000-62477000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:62476000-62477000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:62476000-62477000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:62476000-62477000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr11:62476000-62477000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr11:62476000-62477000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:62476000-62478000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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