Variant report

Variant	rs2742507
Chromosome Location	chr11:8956265-8956266
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	GATA3	chr11:8956123-8956906	SK-N-SH	brain:	n/a	n/a
2	GATA2	chr11:8956225-8956664	HUVEC	blood vessel:	n/a	n/a
3	GATA3	chr11:8956178-8956701	MCF-7	breast:	n/a	n/a
4	TCF12	chr11:8956258-8956880	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr11:8956238-8956805	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr11:8956256-8956750	A549	lung:	n/a	n/a
7	RCOR1	chr11:8956265-8956800	K562	blood:	n/a	n/a
8	PBX3	chr11:8956217-8956770	SK-N-SH	brain:	n/a	n/a
9	JUND	chr11:8956237-8956875	SK-N-SH	brain:	n/a	n/a
10	JUND	chr11:8956212-8956833	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr11:8956047-8956880	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr11:8956248-8956735	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8955859..8958646-chr11:8984465..8986441,3	MCF-7	breast:
2	chr11:8955484..8958608-chr11:8984431..8986354,3	K562	blood:

Variant related genes	Relation type
C11orf16	TF binding region
ENSG00000175348	Chromatin interaction
ENSG00000254860	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10840149	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840152	0.90[AMR][1000 genomes]
rs11042155	1.00[EUR][1000 genomes]
rs1989143	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2195812	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256067	1.00[EUR][1000 genomes]
rs2262323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436178	1.00[EUR][1000 genomes]
rs2455603	0.97[AFR][1000 genomes]
rs2568021	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568023	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568024	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568026	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568030	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568036	1.00[AMR][1000 genomes]
rs2568041	1.00[EUR][1000 genomes]
rs2568055	1.00[EUR][1000 genomes]
rs2568058	1.00[EUR][1000 genomes]
rs2568060	1.00[EUR][1000 genomes]
rs2568063	1.00[EUR][1000 genomes]
rs2568072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568083	1.00[EUR][1000 genomes]
rs2653561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653563	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653571	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653579	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2653583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653584	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653598	0.95[AFR][1000 genomes]
rs2653600	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653608	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653614	1.00[EUR][1000 genomes]
rs2653615	1.00[EUR][1000 genomes]
rs2742469	1.00[EUR][1000 genomes]
rs2742476	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2742479	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742482	1.00[EUR][1000 genomes]
rs2742508	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742518	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742539	1.00[EUR][1000 genomes]
rs2742543	1.00[EUR][1000 genomes]
rs2742551	1.00[EUR][1000 genomes]
rs3105215	0.81[AFR][1000 genomes]
rs6416158	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6416159	1.00[EUR][1000 genomes]
rs7104415	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119887	0.80[AMR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396042	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396427	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7932678	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936297	1.00[EUR][1000 genomes]
rs7950826	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv8787	chr11:8954949-8959098	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8942400-8959000	Weak transcription	Fetal Kidney	kidney
2	chr11:8943800-8969200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:8944200-8956400	Weak transcription	HUVEC	blood vessel
4	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:8944800-8956400	Weak transcription	Fetal Intestine Large	intestine
6	chr11:8945800-8974000	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:8947000-8968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
9	chr11:8947200-8956400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:8947400-8969000	Weak transcription	Thymus	Thymus
11	chr11:8947600-8956400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:8947600-8969000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:8948200-8969000	Weak transcription	Fetal Brain Female	brain
14	chr11:8948600-8969200	Weak transcription	Gastric	stomach
15	chr11:8948600-8969200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:8951200-8974400	Weak transcription	HepG2	liver
17	chr11:8952600-8957200	Weak transcription	Spleen	Spleen
18	chr11:8952600-8975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:8952800-8968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:8953000-8956400	Weak transcription	HSMMtube	muscle
21	chr11:8954000-8956400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:8954600-8956600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:8954800-8956400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:8954800-8956400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:8955200-8956400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:8955200-8956400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:8955200-8956600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:8955200-8956800	Weak transcription	Fetal Thymus	thymus
30	chr11:8955200-8976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:8955400-8956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:8955400-8956400	Weak transcription	Placenta	Placenta
33	chr11:8955600-8956400	Enhancers	NHLF	lung
34	chr11:8955600-8956600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:8955600-8958200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:8955800-8956800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:8955800-8968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:8956000-8956400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr11:8956000-8956400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:8956200-8956400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:8956200-8956400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:8956200-8956400	Enhancers	A549	lung
43	chr11:8956200-8956600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:8956200-8956600	Enhancers	NH-A	brain
45	chr11:8956200-8956800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:8956200-8956800	Flanking Active TSS	NHEK	skin
47	chr11:8956200-8956800	Enhancers	Osteobl	bone
48	chr11:8956200-8957000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:8956200-8957000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:8956200-8957000	Enhancers	Muscle Satellite Cultured Cells	--

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