Variant report

Variant	rs187647459
Chromosome Location	chr11:66235107-66235108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:66234554-66235158	IMR90	lung:	n/a	n/a
2	MAX	chr11:66233762-66235170	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:66234960-66235110	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr11:66235020-66235170	GM12871	blood:	n/a	n/a
5	CTCF	chr11:66235000-66235150	AG09319	gingival:	n/a	n/a
6	CTCF	chr11:66234960-66235110	HCFaa	heart:	n/a	n/a
7	CREB1	chr11:66233688-66235152	HepG2	liver:	n/a	n/a
8	CTCF	chr11:66234980-66235130	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr11:66234960-66235110	BJ	skin:	n/a	n/a
10	CTCF	chr11:66234960-66235110	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr11:66235080-66235230	HEEpiC	esophagus:	n/a	n/a
12	MAZ	chr11:66233486-66235242	IMR90	lung:	n/a	n/a
13	REST	chr11:66233615-66235434	H1-neurons	neurons:	n/a	chr11:66234642-66234655 chr11:66234284-66234297 chr11:66234281-66234301 chr11:66233925-66233938 chr11:66235090-66235099
14	HCFC1	chr11:66233806-66235286	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr11:66235000-66235150	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr11:66234960-66235110	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr11:66235060-66235210	HVMF	connective:	n/a	n/a
18	CTCF	chr11:66235060-66235210	BJ	skin:	n/a	n/a
19	MTA3	chr11:66234743-66235213	GM12878	blood:	n/a	n/a
20	SIN3A	chr11:66233468-66235321	H1-hESC	embryonic stem cell:	n/a	chr11:66234618-66234629 chr11:66235095-66235106 chr11:66234281-66234294

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66235081-66235131	GM06990	blood:	n/a
2	chr11:66235081-66235131	HEEpiC	esophagus:	n/a
3	chr11:66235081-66235131	HAEpiC	amniotic membrane:	n/a
4	chr11:66235081-66235131	HRCEpiC	kidney:	n/a
5	chr11:66235081-66235131	HCM	heart:	n/a
6	chr11:66235081-66235131	HEK293	kidney:	embryo
7	chr11:66235081-66235131	NB4	blood:	n/a
8	chr11:66235081-66235131	MCF-7	breast:	n/a
9	chr11:66235081-66235131	ovcar-3	ovarian:	n/a
10	chr11:66235081-66235131	LNCaP	prostate:	n/a
11	chr11:66235081-66235131	HCT-116	colon:	n/a
12	chr11:66235081-66235131	K562	blood:	n/a
13	chr11:66235081-66235131	PrEC	prostate:	n/a
14	chr11:66235081-66235131	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:66235081-66235131	BE2_C	brain:	n/a
16	chr11:66235081-66235131	Hela-S3	cervix:	n/a
17	chr11:66235081-66235131	PFSK-1	brain:	n/a
18	chr11:66235081-66235131	GM12891	blood:	n/a
19	chr11:66235081-66235131	A549	lung:	n/a
20	chr11:66235081-66235131	HIPEpiC	eye:	n/a
21	chr11:66235081-66235131	RPTEC	kidney:	n/a
22	chr11:66235081-66235131	SK-N-MC	brain:	n/a
23	chr11:66235081-66235131	H1-hESC	embryonic stem cell:	embryo
24	chr11:66235081-66235131	SAEC	small airway:	n/a
25	chr11:66235081-66235131	AG04449	skin:	fetal
26	chr11:66235081-66235131	NHBE	bronchial:	n/a
27	chr11:66235081-66235131	HepG2	liver:	n/a
28	chr11:66235081-66235131	NH-A	brain:	n/a
29	chr11:66235081-66235131	AG09319	gingival:	n/a
30	chr11:66235081-66235131	MCF10A-Er-Src	breast:	n/a
31	chr11:66235081-66235131	SK-N-SH_RA	brain:	n/a
32	chr11:66235081-66235131	AG09309	skin:	n/a
33	chr11:66235081-66235131	AG10803	skin:	n/a
34	chr11:66235081-66235131	HCF	heart:	n/a
35	chr11:66235081-66235131	HRPEpiC	eye:	n/a
36	chr11:66235081-66235131	AoSMC	blood vessel:	n/a
37	chr11:66235081-66235131	ProgFib	skin:	n/a
38	chr11:66235081-66235131	Hepatocyte	liver:	n/a
39	chr11:66235081-66235131	HCPEpiC	choroid plexus:	n/a
40	chr11:66235081-66235131	SKMC	muscle:	n/a
41	chr11:66235081-66235131	T-47D	breast:	n/a
42	chr11:66235081-66235131	HRE	kidney:	n/a
43	chr11:66235081-66235131	IMR90	lung:	fetal
44	chr11:66235081-66235131	HMEC	breast:	n/a
45	chr11:66235081-66235131	PANC-1	pancreas:	n/a
46	chr11:66235081-66235131	HUVEC	blood vessel:	n/a
47	chr11:66235081-66235131	CMK	blood:	n/a
48	chr11:66235081-66235131	HL-60	blood:	n/a
49	chr11:66235081-66235131	Jurkat	blood:	n/a
50	chr11:66235081-66235131	ECC-1	luminal epithelium:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66056443..66058001-chr11:66233294..66235684,2	MCF-7	breast:
2	chr11:66137724..66140546-chr11:66233440..66235364,2	MCF-7	breast:
3	chr11:66205149..66207043-chr11:66233643..66235724,3	MCF-7	breast:
4	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
5	chr11:66204104..66208501-chr11:66232741..66235835,4	K562	blood:
6	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
7	chr11:66139196..66140787-chr11:66233339..66235193,2	MCF-7	breast:
8	chr11:66204033..66208144-chr11:66232603..66235665,3	K562	blood:
9	chr11:66115381..66116970-chr11:66233175..66235277,2	MCF-7	breast:
10	chr11:66233713..66235864-chr11:66383889..66386308,2	MCF-7	breast:
11	chr11:66233892..66235640-chr11:66313416..66314952,2	K562	blood:
12	chr11:64543824..64546166-chr11:66233104..66235592,3	MCF-7	breast:
13	chr11:66234037..66235984-chr11:66277120..66279562,2	MCF-7	breast:
14	chr11:66234759..66237082-chr11:66443933..66445576,2	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL11	TF binding region
MRPL11	CpG island
ENSG00000174483	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174547	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	esv3332492	chr11:66233476-66235774	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
8	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66233200-66235200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:66233200-66235200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66233400-66235200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:66233600-66235200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:66233600-66235200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:66233600-66235200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:66233600-66235200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:66233600-66235200	Active TSS	Ovary	ovary
9	chr11:66233800-66235200	Active TSS	Aorta	Aorta
10	chr11:66233800-66235200	Active TSS	HSMM	muscle
11	chr11:66234200-66235200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:66234200-66235200	Active TSS	HSMMtube	muscle
13	chr11:66234600-66235200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr11:66234600-66235200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr11:66234600-66235200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:66234600-66235200	Flanking Active TSS	Liver	Liver
17	chr11:66234600-66235400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:66234600-66235400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:66234600-66235400	Flanking Active TSS	Colonic Mucosa	Colon
20	chr11:66234600-66235800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:66234800-66235200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:66234800-66235200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:66234800-66235200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
24	chr11:66234800-66235200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:66234800-66235200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr11:66234800-66235200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr11:66234800-66235200	Flanking Active TSS	Fetal Heart	heart
28	chr11:66234800-66235200	Flanking Active TSS	Placenta	Placenta
29	chr11:66234800-66235200	Flanking Active TSS	Fetal Thymus	thymus
30	chr11:66234800-66235200	Flanking Active TSS	Pancreas	Pancrea
31	chr11:66234800-66235200	Flanking Active TSS	Psoas Muscle	Psoas
32	chr11:66234800-66235200	Flanking Active TSS	Right Ventricle	heart
33	chr11:66234800-66235200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:66234800-66235200	Flanking Active TSS	Stomach Mucosa	stomach
35	chr11:66234800-66235200	Flanking Active TSS	Thymus	Thymus
36	chr11:66234800-66235200	Flanking Active TSS	Spleen	Spleen
37	chr11:66234800-66235200	Flanking Active TSS	HUVEC	blood vessel
38	chr11:66234800-66235200	Flanking Active TSS	NH-A	brain
39	chr11:66234800-66235400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:66234800-66235400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:66234800-66235400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr11:66234800-66235400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr11:66234800-66235400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr11:66234800-66235400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr11:66234800-66235400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:66234800-66235400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:66234800-66235400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:66234800-66235400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:66234800-66235400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr11:66234800-66235400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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