Variant report

Variant	rs561047731
Chromosome Location	chr11:77184358-77184359
allele	C/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	chr11:77184273-77185933	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:77184354-77185554	MCF-7	breast:	n/a	n/a
3	MAX	chr11:77184214-77185220	A549	lung:	n/a	chr11:77185020-77185030 chr11:77185113-77185123
4	POLR2A	chr11:77184076-77184505	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:77184051-77184399	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr11:77184115-77185533	ECC-1	luminal epithelium:	n/a	chr11:77184322-77184329
7	ZNF263	chr11:77183657-77185642	HEK293-T-REx	kidney:	n/a	chr11:77184632-77184641 chr11:77184626-77184635 chr11:77184460-77184469 chr11:77184629-77184638
8	POLR2A	chr11:77184126-77184780	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:77184217-77185623	GM18505	blood:	n/a	n/a
10	POLR2A	chr11:77184176-77185541	GM18951	blood:	n/a	n/a
11	TAF1	chr11:77184192-77184744	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:77184339-77185213	SK-N-SH	brain:	n/a	chr11:77185020-77185030 chr11:77185113-77185123
13	ZBTB7A	chr11:77184117-77185676	ECC-1	luminal epithelium:	n/a	chr11:77184322-77184329
14	MAZ	chr11:77183844-77185675	GM12878	blood:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
15	POLR2A	chr11:77183806-77185870	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:77184328-77185651	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:77184024-77185691	SK-N-MC	brain:	n/a	n/a
18	TAF1	chr11:77184062-77184806	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr11:77184093-77185812	H1-neurons	neurons:	n/a	n/a
20	TAF1	chr11:77184014-77184776	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:77184236-77185578	MCF-7	breast:	n/a	n/a
22	POLR2A	chr11:77184112-77185559	GM15510	blood:	n/a	n/a
23	POLR2A	chr11:77184334-77185611	GM19099	blood:	n/a	n/a
24	POLR2A	chr11:77184308-77185761	GM12892	blood:	n/a	n/a
25	REST	chr11:77183731-77185988	H1-neurons	neurons:	n/a	chr11:77185113-77185126 chr11:77184075-77184088 chr11:77185481-77185494 chr11:77184604-77184617 chr11:77185481-77185494
26	ELF1	chr11:77184120-77184779	GM12878	blood:	n/a	chr11:77184711-77184723 chr11:77184476-77184488 chr11:77184718-77184727 chr11:77184714-77184726 chr11:77184715-77184724
27	POLR2A	chr11:77183966-77185803	H1-neurons	neurons:	n/a	n/a
28	MAX	chr11:77184151-77185762	A549	lung:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
29	POLR2A	chr11:77184150-77185549	GM12878	blood:	n/a	n/a
30	MXI1	chr11:77183944-77184427	GM12878	blood:	n/a	n/a
31	ZNF143	chr11:77184256-77184434	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr11:77183974-77185604	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:77184013-77185739	GM12892	blood:	n/a	n/a
34	TBP	chr11:77184048-77184395	H1-hESC	embryonic stem cell:	n/a	n/a
35	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
36	POLR2A	chr11:77184101-77185634	GM19193	blood:	n/a	n/a
37	POLR2A	chr11:77184119-77185204	GM12878	blood:	n/a	n/a
38	MAX	chr11:77184149-77185730	ECC-1	luminal epithelium:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
39	SIN3A	chr11:77183886-77185758	H1-hESC	embryonic stem cell:	n/a	chr11:77184724-77184737 chr11:77185118-77185129
40	ZEB1	chr11:77184153-77184782	GM12878	blood:	n/a	chr11:77184447-77184456
41	TAF1	chr11:77184179-77185688	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr11:77184169-77185688	GM18526	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77182864..77185465-chr2:149892800..149895583,2	MCF-7	breast:
2	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268635	TF binding region
ENSG00000149269	Chromatin interaction
ENSG00000150556	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77182800-77185400	Active TSS	Colonic Mucosa	Colon
2	chr11:77183200-77184600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:77183200-77185600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:77183200-77186000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:77183400-77185400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:77183400-77185400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:77183400-77185400	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:77183400-77185600	Active TSS	Fetal Stomach	stomach
9	chr11:77183400-77185800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:77183400-77185800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:77183400-77185800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr11:77183400-77186000	Active TSS	Brain Hippocampus Middle	brain
13	chr11:77183400-77186000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:77183400-77186200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:77183600-77185400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:77183600-77185400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr11:77183600-77185800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr11:77183600-77185800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:77183600-77185800	Active TSS	Ovary	ovary
20	chr11:77183600-77186000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:77183600-77186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:77183600-77186000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:77183600-77186000	Active TSS	Brain Germinal Matrix	brain
24	chr11:77183600-77186000	Active TSS	Fetal Brain Male	brain
25	chr11:77183600-77186000	Active TSS	Pancreas	Pancrea
26	chr11:77183600-77186200	Active TSS	Duodenum Mucosa	Duodenum
27	chr11:77183600-77186400	Active TSS	Fetal Kidney	kidney
28	chr11:77183800-77184400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr11:77183800-77184400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr11:77183800-77184400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:77183800-77184400	Flanking Active TSS	Thymus	Thymus
32	chr11:77183800-77184400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:77183800-77184600	Active TSS	Stomach Mucosa	stomach
34	chr11:77183800-77184800	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:77183800-77184800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:77183800-77184800	Active TSS	Right Atrium	heart
37	chr11:77183800-77185400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:77183800-77185600	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:77183800-77185600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr11:77183800-77185600	Active TSS	Brain Cingulate Gyrus	brain
41	chr11:77183800-77185800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:77183800-77185800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:77183800-77185800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:77183800-77185800	Active TSS	Liver	Liver
45	chr11:77183800-77185800	Active TSS	Fetal Intestine Large	intestine
46	chr11:77183800-77186000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:77183800-77186000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:77183800-77186000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:77183800-77186000	Active TSS	Brain Angular Gyrus	brain
50	chr11:77183800-77186000	Active TSS	GM12878-XiMat	blood

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