Variant report

Variant	rs557446496
Chromosome Location	chr11:77183878-77183879
allele	C/T
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	CHD1	chr11:77183764-77184330	H1-hESC	embryonic stem cell:	n/a	chr11:77184317-77184327
2	BRCA1	chr11:77183844-77184124	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr11:77183657-77185642	HEK293-T-REx	kidney:	n/a	chr11:77184632-77184641 chr11:77184626-77184635 chr11:77184460-77184469 chr11:77184629-77184638
4	MAZ	chr11:77183844-77185675	GM12878	blood:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
5	POLR2A	chr11:77183806-77185870	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr11:77183858-77184177	GM12878	blood:	n/a	n/a
7	REST	chr11:77183731-77185988	H1-neurons	neurons:	n/a	chr11:77185113-77185126 chr11:77184075-77184088 chr11:77185481-77185494 chr11:77184604-77184617 chr11:77185481-77185494
8	JUND	chr11:77183312-77186257	SK-N-SH	brain:	n/a	chr11:77185296-77185305 chr11:77184435-77184444 chr11:77185301-77185310 chr11:77183441-77183450 chr11:77184315-77184324 chr11:77185446-77185455 chr11:77185361-77185375

No.	Distal block	Cell Line	Cell type
1	chr11:77161236..77163004-chr11:77181635..77184038,2	MCF-7	breast:
2	chr11:77182864..77185465-chr2:149892800..149895583,2	MCF-7	breast:
3	chr11:77172481..77174902-chr11:77181213..77184183,2	MCF-7	breast:
4	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268635	TF binding region
ENSG00000150556	Chromatin interaction
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3330993	chr11:77183854-77186152	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77181000-77184200	Enhancers	Dnd41	blood
2	chr11:77181200-77184000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:77181400-77184000	Enhancers	Brain Substantia Nigra	brain
4	chr11:77182000-77184000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:77182200-77184000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:77182400-77184000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:77182400-77184000	Weak transcription	Small Intestine	intestine
8	chr11:77182600-77184000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:77182800-77184000	Weak transcription	Esophagus	oesophagus
10	chr11:77182800-77184000	Weak transcription	Psoas Muscle	Psoas
11	chr11:77182800-77185400	Active TSS	Colonic Mucosa	Colon
12	chr11:77183200-77184600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:77183200-77185600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:77183200-77186000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:77183400-77184000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:77183400-77184000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:77183400-77184000	Flanking Active TSS	NHEK	skin
18	chr11:77183400-77184200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:77183400-77184200	Flanking Active TSS	Fetal Brain Female	brain
20	chr11:77183400-77185400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:77183400-77185400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:77183400-77185400	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:77183400-77185600	Active TSS	Fetal Stomach	stomach
24	chr11:77183400-77185800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:77183400-77185800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:77183400-77185800	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr11:77183400-77186000	Active TSS	Brain Hippocampus Middle	brain
28	chr11:77183400-77186000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:77183400-77186200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:77183600-77184000	Enhancers	Colon Smooth Muscle	Colon
31	chr11:77183600-77184200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:77183600-77184200	Active TSS	Placenta	Placenta
33	chr11:77183600-77184200	Flanking Active TSS	HMEC	breast
34	chr11:77183600-77185400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:77183600-77185400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:77183600-77185800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:77183600-77185800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:77183600-77185800	Active TSS	Ovary	ovary
39	chr11:77183600-77186000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:77183600-77186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:77183600-77186000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:77183600-77186000	Active TSS	Brain Germinal Matrix	brain
43	chr11:77183600-77186000	Active TSS	Fetal Brain Male	brain
44	chr11:77183600-77186000	Active TSS	Pancreas	Pancrea
45	chr11:77183600-77186200	Active TSS	Duodenum Mucosa	Duodenum
46	chr11:77183600-77186400	Active TSS	Fetal Kidney	kidney
47	chr11:77183800-77184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:77183800-77184000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:77183800-77184000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:77183800-77184000	Active TSS	Primary B cells from cord blood	blood

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