Variant report

Variant	rs11039262
Chromosome Location	chr11:47510600-47510601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47510560-47510610	GM19239	blood:	n/a
2	chr11:47510560-47510610	AG09309	skin:	n/a
3	chr11:47510560-47510610	SK-N-SH_RA	brain:	n/a
4	chr11:47510560-47510610	AG04449	skin:	fetal
5	chr11:47510560-47510610	GM12891	blood:	n/a
6	chr11:47510560-47510610	NT2-D1	testis:	n/a
7	chr11:47510560-47510610	HepG2	liver:	n/a
8	chr11:47510560-47510610	NHBE	bronchial:	n/a
9	chr11:47510560-47510610	HMEC	breast:	n/a
10	chr11:47510560-47510610	AG10803	skin:	n/a
11	chr11:47510560-47510610	HEK293	kidney:	embryo
12	chr11:47510560-47510610	MCF-7	breast:	n/a
13	chr11:47510560-47510610	AG04450	lung:	fetal
14	chr11:47510560-47510610	SK-N-MC	brain:	n/a
15	chr11:47510560-47510610	MCF10A-Er-Src	breast:	n/a
16	chr11:47510560-47510610	K562	blood:	n/a
17	chr11:47510560-47510610	ECC-1	luminal epithelium:	n/a
18	chr11:47510560-47510610	PrEC	prostate:	n/a
19	chr11:47510560-47510610	NB4	blood:	n/a
20	chr11:47510560-47510610	H1-hESC	embryonic stem cell:	embryo
21	chr11:47510560-47510610	ProgFib	skin:	n/a
22	chr11:47510560-47510610	SAEC	small airway:	n/a
23	chr11:47510560-47510610	HCT-116	colon:	n/a
24	chr11:47510560-47510610	HNPCEpiC	eye:	n/a
25	chr11:47510560-47510610	NHDF-neo	bronchial:	n/a
26	chr11:47510560-47510610	LNCaP	prostate:	n/a
27	chr11:47510560-47510610	IMR90	lung:	fetal
28	chr11:47510560-47510610	SKMC	muscle:	n/a
29	chr11:47510560-47510610	PFSK-1	brain:	n/a
30	chr11:47510560-47510610	BJ	skin:	n/a
31	chr11:47510560-47510610	Jurkat	blood:	n/a
32	chr11:47510560-47510610	HCPEpiC	choroid plexus:	n/a
33	chr11:47510560-47510610	RPTEC	kidney:	n/a
34	chr11:47510560-47510610	AG09319	gingival:	n/a
35	chr11:47510560-47510610	Caco-2	colon:	n/a
36	chr11:47510560-47510610	GM12892	blood:	n/a
37	chr11:47510560-47510610	HCM	heart:	n/a
38	chr11:47510560-47510610	GM12878	blood:	n/a
39	chr11:47510560-47510610	CMK	blood:	n/a
40	chr11:47510560-47510610	SK-N-SH	brain:	n/a
41	chr11:47510560-47510610	NH-A	brain:	n/a
42	chr11:47510560-47510610	HUVEC	blood vessel:	n/a
43	chr11:47510560-47510610	Hela-S3	cervix:	n/a
44	chr11:47510560-47510610	ovcar-3	ovarian:	n/a
45	chr11:47510560-47510610	HEEpiC	esophagus:	n/a
46	chr11:47510560-47510610	Hepatocyte	liver:	n/a
47	chr11:47510560-47510610	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:47510560-47510610	HRCEpiC	kidney:	n/a
49	chr11:47510560-47510610	U87	brain:	n/a
50	chr11:47510560-47510610	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:47500961..47505099-chr11:47507828..47511495,3	K562	blood:
2	chr11:47508773..47510802-chr11:47519737..47522301,2	MCF-7	breast:
3	chr11:47495942..47497464-chr11:47509370..47511257,2	MCF-7	breast:
4	chr11:47509851..47512898-chr11:47514221..47516696,3	MCF-7	breast:
5	chr11:47510397..47513087-chr11:47516019..47518025,2	K562	blood:

No data

Variant related genes	Relation type
CELF1	CpG island
ENSG00000265467	CpG island
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10769273	1.00[MEX][hapmap]
rs11039292	1.00[MEX][hapmap]
rs2856655	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47480800-47511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:47480800-47511400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:47483600-47511400	Strong transcription	Dnd41	blood
4	chr11:47484800-47510600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:47484800-47511000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:47485200-47511400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:47485400-47511400	Strong transcription	Primary B cells from cord blood	blood
8	chr11:47485600-47511000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:47485800-47518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:47486200-47511200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:47486200-47511200	Strong transcription	Primary T cells from cord blood	blood
12	chr11:47488200-47510800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:47488200-47511200	Strong transcription	GM12878-XiMat	blood
14	chr11:47488800-47510800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:47489200-47510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
17	chr11:47489400-47510800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:47489800-47510600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:47490000-47510600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:47490000-47511000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr11:47490800-47510800	Strong transcription	HSMMtube	muscle
22	chr11:47491400-47510600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:47491400-47510600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:47491400-47511000	Strong transcription	A549	lung
25	chr11:47491400-47512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:47491600-47511400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:47491800-47511400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:47492200-47510800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr11:47492400-47511000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:47492400-47511400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:47492600-47510600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:47492600-47510800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr11:47492600-47511000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:47492600-47511200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:47493400-47512000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:47499400-47511200	Strong transcription	Hela-S3	cervix
37	chr11:47499600-47510600	Strong transcription	HSMM	muscle
38	chr11:47499600-47510800	Strong transcription	NH-A	brain
39	chr11:47499600-47513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:47500800-47510600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr11:47500800-47510600	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:47500800-47510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:47501000-47511400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:47501200-47510600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:47501200-47510800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:47501200-47510800	Strong transcription	Osteobl	bone
47	chr11:47501200-47511000	Strong transcription	NHEK	skin
48	chr11:47501400-47511400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:47505600-47521600	Weak transcription	Fetal Brain Male	brain
50	chr11:47506400-47521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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