Variant report

Variant	rs187690282
Chromosome Location	chr11:65836925-65836926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:209)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:209 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65836890-65837095	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:65836920-65837070	GM12875	blood:	n/a	n/a
3	POLR2A	chr11:65836889-65838227	ProgFib	skin:	n/a	n/a
4	TEAD4	chr11:65836873-65837367	H1-hESC	embryonic stem cell:	n/a	n/a
5	RUNX3	chr11:65836229-65837957	GM12878	blood:	n/a	n/a
6	MAX	chr11:65836371-65838975	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
7	SIN3AK20	chr11:65836806-65837327	A549	lung:	n/a	n/a
8	MAX	chr11:65836782-65837091	GM12878	blood:	n/a	n/a
9	CHD1	chr11:65836785-65836985	GM12878	blood:	n/a	n/a
10	CTCF	chr11:65836880-65837030	GM12878	blood:	n/a	n/a
11	CTCF	chr11:65836880-65837030	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr11:65836888-65837101	GM19240	blood:	n/a	n/a
13	CTCF	chr11:65836900-65837050	AG09319	gingival:	n/a	n/a
14	POLR2A	chr11:65836330-65837671	GM12878	blood:	n/a	n/a
15	STAT5A	chr11:65835763-65837684	GM12878	blood:	n/a	n/a
16	CTCF	chr11:65836900-65837050	HEEpiC	esophagus:	n/a	n/a
17	RCOR1	chr11:65836534-65837016	GM12878	blood:	n/a	n/a
18	CTCF	chr11:65836897-65837060	MCF-7	breast:	n/a	n/a
19	BHLHE40	chr11:65836449-65837033	GM12878	blood:	n/a	n/a
20	RAD21	chr11:65836842-65837150	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr11:65836880-65837030	HVMF	connective:	n/a	n/a
22	FOSL2	chr11:65836324-65837235	A549	lung:	n/a	n/a
23	NFATC1	chr11:65836618-65837780	GM12878	blood:	n/a	n/a
24	CTCF	chr11:65836900-65837079	Medullo	brain:	n/a	n/a
25	CTCF	chr11:65836820-65836970	HVMF	connective:	n/a	n/a
26	CTCF	chr11:65836880-65837030	HEK293	kidney:	n/a	n/a
27	CTCF	chr11:65836924-65836926	GM10266	blood:	n/a	n/a
28	POLR2A	chr11:65836892-65837564	HepG2	liver:	n/a	n/a
29	CTCF	chr11:65836900-65837050	BJ	skin:	n/a	n/a
30	PBX3	chr11:65836815-65837949	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr11:65836900-65837050	NHLF	lung:	n/a	n/a
32	POLR2A	chr11:65836624-65837689	U87	brain:	n/a	n/a
33	MAX	chr11:65836771-65838506	HepG2	liver:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
34	CTCF	chr11:65836894-65837027	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr11:65836920-65837070	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr11:65836793-65837169	A549	lung:	n/a	n/a
37	CTCF	chr11:65836880-65837030	WI-38	lung:	n/a	n/a
38	CTCF	chr11:65836880-65837030	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:65836880-65837030	GM06990	blood:	n/a	n/a
40	POLR2A	chr11:65836867-65837066	A549	lung:	n/a	n/a
41	POLR2A	chr11:65836338-65838105	GM12891	blood:	n/a	n/a
42	CTCF	chr11:65836880-65837030	A549	lung:	n/a	n/a
43	MAZ	chr11:65836170-65839866	IMR90	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
44	CTCF	chr11:65836860-65837010	WERI-Rb-1	eye:	n/a	n/a
45	POLR2A	chr11:65836351-65837681	K562	blood:	n/a	n/a
46	CTCF	chr11:65836900-65837050	GM12869	blood:	n/a	n/a
47	POLR2A	chr11:65836498-65837980	GM12891	blood:	n/a	n/a
48	SIN3A	chr11:65836824-65838298	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:65836900-65837050	AoAF	blood vessel:	n/a	n/a
50	RELA	chr11:65836431-65837831	GM12891	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
2	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
3	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:
4	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
5	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
6	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
7	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
8	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
9	chr11:65788482..65791914-chr11:65833749..65837289,3	MCF-7	breast:
10	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
11	chr11:65836782..65838328-chr20:49347114..49348947,2	MCF-7	breast:
12	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
13	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
14	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
15	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
16	chr11:65625072..65626937-chr11:65835477..65837832,2	K562	blood:
17	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:

No data

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000175334	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000254855	Chromatin interaction
ENSG00000175592	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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 target site	103 gene(s)	inside rSNPs	diseases
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
7	esv3377128	chr11:65836776-65839324	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 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	chr11:65828200-65838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65832800-65837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65835000-65837000	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr11:65835200-65837000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:65835400-65837000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:65835400-65837000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:65835400-65837000	Genic enhancers	Fetal Muscle Leg	muscle
8	chr11:65835400-65837000	Genic enhancers	Placenta	Placenta
9	chr11:65835400-65837000	Genic enhancers	Fetal Thymus	thymus
10	chr11:65835400-65837200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:65835400-65837200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:65835600-65837000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:65835600-65837000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:65835600-65837000	Genic enhancers	Gastric	stomach
15	chr11:65835600-65837000	Genic enhancers	Left Ventricle	heart
16	chr11:65835600-65837000	Genic enhancers	Right Atrium	heart
17	chr11:65835800-65837000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
18	chr11:65835800-65837000	Genic enhancers	Fetal Lung	lung
19	chr11:65835800-65837200	Weak transcription	Aorta	Aorta
20	chr11:65835800-65837200	Weak transcription	Ovary	ovary
21	chr11:65836000-65837000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:65836000-65837000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:65836000-65837000	Genic enhancers	Fetal Intestine Large	intestine
24	chr11:65836000-65837000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr11:65836000-65837000	Genic enhancers	HMEC	breast
26	chr11:65836000-65837000	Genic enhancers	HUVEC	blood vessel
27	chr11:65836000-65837000	Enhancers	NHDF-Ad	bronchial
28	chr11:65836000-65837000	Genic enhancers	NHEK	skin
29	chr11:65836000-65837200	Transcr. at gene 5' and 3'	A549	lung
30	chr11:65836000-65837400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr11:65836200-65837000	Enhancers	Pancreas	Pancrea
32	chr11:65836200-65837200	Flanking Active TSS	Fetal Heart	heart
33	chr11:65836200-65837400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:65836200-65837600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr11:65836400-65837000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:65836400-65837000	Genic enhancers	Stomach Mucosa	stomach
37	chr11:65836400-65837200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:65836400-65837400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:65836400-65837600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:65836600-65837000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:65836600-65837000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
42	chr11:65836600-65837000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:65836600-65837000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:65836600-65837000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:65836600-65837000	Genic enhancers	Fetal Stomach	stomach
46	chr11:65836600-65837000	Enhancers	Lung	lung
47	chr11:65836600-65837000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:65836600-65837000	Transcr. at gene 5' and 3'	Hela-S3	cervix
49	chr11:65836600-65837200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65836600-65837200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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