Variant report

Variant	rs541873898
Chromosome Location	chr11:57409380-57409381
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57406679-57409638	PBDE	blood:	n/a	n/a
2	RAD21	chr11:57408468-57409472	HCT-116	colon:	n/a	chr11:57408797-57408809 chr11:57409160-57409179
3	CTCF	chr11:57408348-57409387	K562	blood:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
4	RAD21	chr11:57408875-57409438	A549	lung:	n/a	chr11:57409160-57409179
5	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:57404853-57409799	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr11:57408900-57409431	MCF-7	breast:	n/a	chr11:57409160-57409179
8	CTCF	chr11:57409360-57409510	GM12864	blood:	n/a	n/a
9	POLR2A	chr11:57404978-57410762	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:57408428-57409380	IMR90	lung:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
11	POLR2A	chr11:57404927-57409727	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:57408232-57409596	A549	lung:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
13	POLR2A	chr11:57408728-57409613	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:57404802-57417187	SK-N-MC	brain:	n/a	n/a
15	CTCF	chr11:57408854-57409480	HCT-116	colon:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
16	ATF2	chr11:57408370-57409591	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr11:57408876-57409583	SK-N-SH	brain:	n/a	chr11:57409160-57409179
18	CTCF	chr11:57408367-57409579	HCT-116	colon:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
19	SMC3	chr11:57408453-57409393	Hela-S3	cervix:	n/a	chr11:57409164-57409178
20	RAD21	chr11:57408982-57409448	A549	lung:	n/a	chr11:57409160-57409179
21	POLR2A	chr11:57405031-57409669	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:57409126-57409588	HepG2	liver:	n/a	n/a
23	RAD21	chr11:57408850-57409401	H1-hESC	embryonic stem cell:	n/a	chr11:57409160-57409179
24	CTCF	chr11:57408341-57409607	SK-N-SH	brain:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
25	CTCF	chr11:57409280-57409430	GM12868	blood:	n/a	n/a
26	CTCF	chr11:57409340-57409490	GM12872	blood:	n/a	n/a
27	RAD21	chr11:57408528-57409529	HCT-116	colon:	n/a	chr11:57408797-57408809 chr11:57409160-57409179
28	SMC3	chr11:57408359-57409756	SK-N-SH	brain:	n/a	chr11:57409164-57409178
29	POLR2A	chr11:57408996-57409649	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr11:57409240-57409390	WI-38	lung:	n/a	n/a
31	POLR2A	chr11:57408982-57409677	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:57408418-57409385	K562	blood:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180
33	POLR2A	chr11:57404949-57409673	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:57408884-57409403	MCF-7	breast:	n/a	chr11:57409157-57409178 chr11:57409163-57409179 chr11:57409162-57409180

No.	Distal block	Cell Line	Cell type
1	chr11:57405566..57408530-chr11:57408605..57410550,2	MCF-7	breast:
2	chr11:57335324..57336323-chr11:57408291..57409695,14	MCF-7	breast:
3	chr11:57334539..57338384-chr11:57406664..57411574,5	MCF-7	breast:
4	chr11:57224546..57225432-chr11:57408726..57409938,3	K562	blood:
5	chr11:57335355..57336298-chr11:57408531..57409635,7	K562	blood:
6	chr11:57293312..57295959-chr11:57408961..57411007,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254602	TF binding region
ENSG00000156587	Chromatin interaction
ENSG00000254602	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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57403000-57412200	Weak transcription	Hela-S3	cervix
2	chr11:57406800-57409600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:57407200-57409400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
4	chr11:57407200-57409400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
5	chr11:57407200-57412200	Weak transcription	Ovary	ovary
6	chr11:57407400-57412600	Weak transcription	GM12878-XiMat	blood
7	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:57407600-57412200	Weak transcription	Spleen	Spleen
10	chr11:57407600-57413000	Weak transcription	Right Ventricle	heart
11	chr11:57407600-57413200	Weak transcription	Esophagus	oesophagus
12	chr11:57407800-57409400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
13	chr11:57407800-57409400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:57407800-57409600	Enhancers	Fetal Heart	heart
15	chr11:57407800-57409600	Genic enhancers	Fetal Lung	lung
16	chr11:57407800-57409600	Enhancers	Dnd41	blood
17	chr11:57407800-57412200	Weak transcription	Pancreas	Pancrea
18	chr11:57408000-57409600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:57408000-57412000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:57408000-57412200	Weak transcription	Lung	lung
21	chr11:57408200-57409600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:57408200-57409600	Enhancers	Fetal Thymus	thymus
23	chr11:57408200-57410600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:57408200-57411200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:57408200-57411200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:57408200-57411400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:57408200-57411400	Genic enhancers	Fetal Muscle Leg	muscle
28	chr11:57408200-57412000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:57408200-57412000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:57408400-57409600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:57408400-57410600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:57408400-57412200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:57408600-57409400	Enhancers	NHLF	lung
34	chr11:57408600-57409600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:57408600-57409600	Enhancers	Brain Germinal Matrix	brain
36	chr11:57408600-57410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:57408600-57411200	Weak transcription	NHEK	skin
38	chr11:57408800-57409400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:57408800-57409400	Enhancers	Fetal Brain Female	brain
40	chr11:57408800-57409600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:57408800-57409600	Genic enhancers	HSMM	muscle
42	chr11:57408800-57409600	Genic enhancers	NHDF-Ad	bronchial
43	chr11:57408800-57410200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:57408800-57410600	Weak transcription	Placenta	Placenta
45	chr11:57408800-57411600	Genic enhancers	H1 Cell Line	embryonic stem cell
46	chr11:57408800-57411800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:57408800-57412000	Weak transcription	Left Ventricle	heart
48	chr11:57408800-57412000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:57408800-57412000	Weak transcription	Right Atrium	heart
50	chr11:57408800-57412200	Weak transcription	Adipose Nuclei	Adipose

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