Variant report

Variant	rs115790932
Chromosome Location	chr11:77184658-77184659
allele	A/C
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	CTCF	chr11:77184580-77184730	GM12870	blood:	n/a	chr11:77184632-77184645
2	CTCF	chr11:77184560-77184741	GM19239	blood:	n/a	chr11:77184632-77184645
3	POLR2A	chr11:77184273-77185933	GM12891	blood:	n/a	n/a
4	CTCF	chr11:77184591-77184719	GM19240	blood:	n/a	chr11:77184632-77184645
5	CTCF	chr11:77184644-77184694	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:77184519-77184751	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr11:77184501-77184772	K562	blood:	n/a	n/a
8	MAX	chr11:77184484-77185596	H1-hESC	embryonic stem cell:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
9	CTCF	chr11:77184460-77184730	GM12871	blood:	n/a	chr11:77184632-77184645
10	POLR2A	chr11:77184354-77185554	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:77184523-77184733	A549	lung:	n/a	n/a
12	POLR2A	chr11:77184413-77184784	GM12892	blood:	n/a	n/a
13	MAX	chr11:77184214-77185220	A549	lung:	n/a	chr11:77185020-77185030 chr11:77185113-77185123
14	POLR2A	chr11:77184427-77184785	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr11:77184462-77184779	GM12878	blood:	n/a	n/a
16	ZBTB7A	chr11:77184115-77185533	ECC-1	luminal epithelium:	n/a	chr11:77184322-77184329
17	ZNF263	chr11:77183657-77185642	HEK293-T-REx	kidney:	n/a	chr11:77184632-77184641 chr11:77184626-77184635 chr11:77184460-77184469 chr11:77184629-77184638
18	POLR2A	chr11:77184126-77184780	GM12878	blood:	n/a	n/a
19	CTCF	chr11:77184586-77184760	GM12891	blood:	n/a	chr11:77184632-77184645
20	POLR2A	chr11:77184420-77185218	HCT-116	colon:	n/a	n/a
21	POLR2A	chr11:77184217-77185623	GM18505	blood:	n/a	n/a
22	CHD2	chr11:77184530-77185815	GM12878	blood:	n/a	chr11:77185322-77185332
23	CTCF	chr11:77184520-77184670	HEEpiC	esophagus:	n/a	chr11:77184632-77184645
24	PAX5	chr11:77184503-77184758	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:77184502-77185168	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:77184442-77185521	Gliobla	brain:	n/a	n/a
27	POLR2A	chr11:77184176-77185541	GM18951	blood:	n/a	n/a
28	TAF1	chr11:77184192-77184744	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr11:77184614-77185856	HepG2	liver:	n/a	chr11:77185444-77185457 chr11:77185392-77185405
30	POLR2A	chr11:77184417-77185754	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:77184517-77184723	A549	lung:	n/a	n/a
32	MAX	chr11:77184339-77185213	SK-N-SH	brain:	n/a	chr11:77185020-77185030 chr11:77185113-77185123
33	CTCF	chr11:77184560-77184710	AG04449	skin:	n/a	chr11:77184632-77184645
34	ZBTB7A	chr11:77184117-77185676	ECC-1	luminal epithelium:	n/a	chr11:77184322-77184329
35	POLR2A	chr11:77184385-77184765	GM12892	blood:	n/a	n/a
36	MAX	chr11:77184402-77185244	MCF-7	breast:	n/a	chr11:77185020-77185030 chr11:77185113-77185123
37	CTCF	chr11:77184588-77184725	MCF-7	breast:	n/a	chr11:77184632-77184645
38	POLR2A	chr11:77184465-77184785	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr11:77184540-77184690	HMEC	breast:	n/a	chr11:77184632-77184645
40	MAZ	chr11:77183844-77185675	GM12878	blood:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
41	POLR2A	chr11:77183806-77185870	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:77184328-77185651	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:77184431-77184777	GM12891	blood:	n/a	n/a
44	POLR2A	chr11:77184024-77185691	SK-N-MC	brain:	n/a	n/a
45	TAF1	chr11:77184062-77184806	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr11:77184549-77184737	GM12892	blood:	n/a	chr11:77184632-77184645
47	CTCF	chr11:77184594-77184686	GM10266	blood:	n/a	chr11:77184632-77184645
48	CTCF	chr11:77184513-77185591	GM12878	blood:	n/a	chr11:77184904-77184917 chr11:77184632-77184645 chr11:77185302-77185315
49	CTCF	chr11:77184575-77184720	MCF-7	breast:	n/a	chr11:77184632-77184645
50	JUN	chr11:77184604-77186094	K562	blood:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185445-77185458 chr11:77185393-77185406 chr11:77185361-77185375

No.	Distal block	Cell Line	Cell type
1	chr11:77182864..77185465-chr2:149892800..149895583,2	MCF-7	breast:
2	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:
3	chr11:77184637..77185143-chr11:77330427..77330941,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP11-4	chr11:77184416-77188075	NONHSAT023216

Variant related genes	Relation type
PAK1	TF binding region
ENSG00000149269	Chromatin interaction
ENSG00000150556	Chromatin interaction
ENSG00000074201	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:125 , 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	chr11:77183200-77185600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:77183200-77186000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:77183400-77185400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:77183400-77185400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:77183400-77185400	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:77183400-77185600	Active TSS	Fetal Stomach	stomach
8	chr11:77183400-77185800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:77183400-77185800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:77183400-77185800	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr11:77183400-77186000	Active TSS	Brain Hippocampus Middle	brain
12	chr11:77183400-77186000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr11:77183400-77186200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:77183600-77185400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:77183600-77185400	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:77183600-77185800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:77183600-77185800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:77183600-77185800	Active TSS	Ovary	ovary
19	chr11:77183600-77186000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:77183600-77186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:77183600-77186000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:77183600-77186000	Active TSS	Brain Germinal Matrix	brain
23	chr11:77183600-77186000	Active TSS	Fetal Brain Male	brain
24	chr11:77183600-77186000	Active TSS	Pancreas	Pancrea
25	chr11:77183600-77186200	Active TSS	Duodenum Mucosa	Duodenum
26	chr11:77183600-77186400	Active TSS	Fetal Kidney	kidney
27	chr11:77183800-77184800	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:77183800-77184800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:77183800-77184800	Active TSS	Right Atrium	heart
30	chr11:77183800-77185400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr11:77183800-77185600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:77183800-77185600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:77183800-77185600	Active TSS	Brain Cingulate Gyrus	brain
34	chr11:77183800-77185800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:77183800-77185800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:77183800-77185800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:77183800-77185800	Active TSS	Liver	Liver
38	chr11:77183800-77185800	Active TSS	Fetal Intestine Large	intestine
39	chr11:77183800-77186000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr11:77183800-77186000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:77183800-77186000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr11:77183800-77186000	Active TSS	Brain Angular Gyrus	brain
43	chr11:77183800-77186000	Active TSS	GM12878-XiMat	blood
44	chr11:77183800-77186200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:77183800-77186400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:77184000-77184800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr11:77184000-77185200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:77184000-77185400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:77184000-77185400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:77184000-77185400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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