Variant report

Variant	rs187871943
Chromosome Location	chr11:65838944-65838945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:65836371-65838975	A549	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
2	CEBPB	chr11:65838503-65838945	Hela-S3	cervix:	n/a	chr11:65838693-65838704
3	MAZ	chr11:65836170-65839866	IMR90	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
4	WRNIP1	chr11:65838609-65839473	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65838532-65839028	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr11:65838800-65838950	NHDF-neo	bronchial:	n/a	n/a
7	CHD2	chr11:65838801-65839051	Hela-S3	cervix:	n/a	n/a
8	KAP1	chr11:65838755-65838950	U2OS	brain:	n/a	n/a
9	MXI1	chr11:65836442-65839722	SK-N-SH	brain:	n/a	n/a
10	GTF2F1	chr11:65838764-65839143	Hela-S3	cervix:	n/a	n/a
11	STAT5A	chr11:65838828-65839311	GM12878	blood:	n/a	n/a
12	MXI1	chr11:65836611-65839059	IMR90	lung:	n/a	n/a
13	SIN3AK20	chr11:65836737-65839079	MCF-7	breast:	n/a	n/a
14	CHD1	chr11:65838849-65838949	GM12878	blood:	n/a	n/a
15	MTA3	chr11:65838543-65839240	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:65838232-65839032	HUVEC	blood vessel:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
2	chr11:65812922..65815510-chr11:65837744..65839701,2	K562	blood:
3	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
4	chr11:65654814..65656550-chr11:65837621..65839885,2	MCF-7	breast:
5	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
6	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
7	chr11:65837353..65839732-chr11:66024702..66027312,4	MCF-7	breast:
8	chr11:65835858..65838956-chr11:66027814..66030508,4	MCF-7	breast:
9	chr11:65788387..65789947-chr11:65837601..65839297,2	K562	blood:
10	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
11	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
12	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
13	chr11:65623430..65625691-chr11:65837839..65839866,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255038	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000254855	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000254461	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3340048	chr11:65837001-65839549	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	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	chr11:65836800-65839000	Active TSS	Primary T cells from cord blood	blood
2	chr11:65836800-65839600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:65837000-65839000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:65837000-65839000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:65837000-65839200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:65837000-65839200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr11:65837000-65839200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:65837000-65839400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:65837000-65839600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:65837000-65839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:65837200-65839000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:65837200-65839000	Active TSS	Ovary	ovary
13	chr11:65837200-65839000	Active TSS	Pancreas	Pancrea
14	chr11:65837200-65839000	Active TSS	Small Intestine	intestine
15	chr11:65837200-65839200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:65837200-65839200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:65837200-65839200	Active TSS	Aorta	Aorta
18	chr11:65837200-65839200	Active TSS	Esophagus	oesophagus
19	chr11:65837200-65839200	Active TSS	Gastric	stomach
20	chr11:65837200-65839200	Active TSS	Left Ventricle	heart
21	chr11:65837200-65839200	Active TSS	Lung	lung
22	chr11:65837200-65839400	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr11:65837200-65839400	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:65837200-65839400	Active TSS	Right Atrium	heart
25	chr11:65837200-65839400	Active TSS	Right Ventricle	heart
26	chr11:65837200-65839400	Active TSS	A549	lung
27	chr11:65837200-65839400	Active TSS	HSMM	muscle
28	chr11:65837200-65839600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:65837200-65839600	Active TSS	HSMMtube	muscle
30	chr11:65837400-65839000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65837400-65839000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:65837400-65839000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:65837400-65839000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65837400-65839000	Active TSS	Stomach Smooth Muscle	stomach
35	chr11:65837400-65839200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:65837400-65839200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:65837400-65839200	Active TSS	Brain Hippocampus Middle	brain
38	chr11:65837400-65839200	Active TSS	Fetal Muscle Trunk	muscle
39	chr11:65837400-65839400	Active TSS	Brain Anterior Caudate	brain
40	chr11:65837400-65840000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr11:65837600-65839000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65837600-65839800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:65837600-65839800	Active TSS	GM12878-XiMat	blood
44	chr11:65837800-65839000	Active TSS	NHDF-Ad	bronchial
45	chr11:65838000-65839000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr11:65838000-65839200	Active TSS	Fetal Kidney	kidney
47	chr11:65838000-65840600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:65838200-65840000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:65838400-65839000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:65838400-65839000	Active TSS	Colonic Mucosa	Colon

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