Variant report

Variant	rs7941675
Chromosome Location	chr11:77185926-77185927
allele	A/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	CEBPB	chr11:77185224-77186054	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:77185226-77185974	K562	blood:	n/a	n/a
3	POLR2A	chr11:77184273-77185933	GM12891	blood:	n/a	n/a
4	RELA	chr11:77184848-77185941	GM18951	blood:	n/a	n/a
5	CREB1	chr11:77184813-77185969	H1-hESC	embryonic stem cell:	n/a	chr11:77185444-77185457 chr11:77185392-77185405
6	RCOR1	chr11:77185266-77186011	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:77185213-77186028	IMR90	lung:	n/a	n/a
8	CREB1	chr11:77185086-77185938	ECC-1	luminal epithelium:	n/a	chr11:77185444-77185457 chr11:77185392-77185405
9	CEBPB	chr11:77185225-77186103	A549	lung:	n/a	n/a
10	JUND	chr11:77184808-77186005	GM12878	blood:	n/a	chr11:77185296-77185305 chr11:77185301-77185310 chr11:77185446-77185455 chr11:77185361-77185375
11	CREB1	chr11:77184812-77185951	K562	blood:	n/a	chr11:77185444-77185457 chr11:77185392-77185405
12	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
13	CREB1	chr11:77184816-77185932	GM12878	blood:	n/a	chr11:77185444-77185457 chr11:77185392-77185405
14	CEBPB	chr11:77185201-77185935	Hela-S3	cervix:	n/a	n/a
15	PML	chr11:77184817-77185936	GM12878	blood:	n/a	n/a
16	REST	chr11:77183731-77185988	H1-neurons	neurons:	n/a	chr11:77185113-77185126 chr11:77184075-77184088 chr11:77185481-77185494 chr11:77184604-77184617 chr11:77185481-77185494
17	ATF1	chr11:77184998-77186000	K562	blood:	n/a	chr11:77185391-77185405 chr11:77185443-77185457
18	CEBPB	chr11:77185790-77185947	HepG2	liver:	n/a	n/a
19	STAT5A	chr11:77185214-77185989	GM12878	blood:	n/a	chr11:77185727-77185739 chr11:77185322-77185334
20	CEBPB	chr11:77185039-77186061	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr11:77184898-77185993	NB4	blood:	n/a	chr11:77185020-77185030 chr11:77185319-77185329 chr11:77185113-77185123
22	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
23	TBP	chr11:77184946-77185998	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77120907..77124363-chr11:77182142..77186268,4	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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2123632	0.85[AMR][1000 genomes]
rs57111053	0.85[AMR][1000 genomes]
rs57497719	1.00[AMR][1000 genomes]
rs59348236	0.85[AMR][1000 genomes]
rs61685578	1.00[AMR][1000 genomes]
rs7130968	1.00[AMR][1000 genomes]
rs7930679	1.00[AMR][1000 genomes]

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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77183200-77186000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:77183400-77186000	Active TSS	Brain Hippocampus Middle	brain
3	chr11:77183400-77186000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:77183400-77186200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:77183600-77186000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:77183600-77186000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:77183600-77186000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:77183600-77186000	Active TSS	Brain Germinal Matrix	brain
9	chr11:77183600-77186000	Active TSS	Fetal Brain Male	brain
10	chr11:77183600-77186000	Active TSS	Pancreas	Pancrea
11	chr11:77183600-77186200	Active TSS	Duodenum Mucosa	Duodenum
12	chr11:77183600-77186400	Active TSS	Fetal Kidney	kidney
13	chr11:77183800-77186000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:77183800-77186000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:77183800-77186000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:77183800-77186000	Active TSS	Brain Angular Gyrus	brain
17	chr11:77183800-77186000	Active TSS	GM12878-XiMat	blood
18	chr11:77183800-77186200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:77183800-77186400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:77184000-77186000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:77184000-77186000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:77184000-77186000	Active TSS	NH-A	brain
23	chr11:77184000-77186000	Active TSS	NHEK	skin
24	chr11:77184200-77186000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:77184200-77186000	Active TSS	Brain Anterior Caudate	brain
26	chr11:77184200-77186000	Active TSS	Fetal Brain Female	brain
27	chr11:77184200-77186000	Active TSS	Fetal Lung	lung
28	chr11:77184400-77186000	Active TSS	Primary B cells from cord blood	blood
29	chr11:77184400-77186000	Active TSS	Primary T cells from cord blood	blood
30	chr11:77184400-77186000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:77184400-77186000	Active TSS	Adipose Nuclei	Adipose
32	chr11:77184400-77186000	Active TSS	Stomach Smooth Muscle	stomach
33	chr11:77184800-77186000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr11:77184800-77186000	Active TSS	Fetal Muscle Trunk	muscle
35	chr11:77185400-77186000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr11:77185400-77186000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:77185400-77186000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:77185400-77186000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:77185400-77186000	Flanking Active TSS	Colonic Mucosa	Colon
40	chr11:77185400-77186000	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr11:77185400-77186400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:77185400-77186400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:77185600-77186000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:77185600-77186000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr11:77185600-77186000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr11:77185600-77186000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr11:77185600-77186000	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:77185600-77186000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:77185600-77186000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:77185600-77186000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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