Variant report

Variant	rs2957264
Chromosome Location	chr11:65154279-65154280
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	TAF1	chr11:65153776-65154521	HepG2	liver:	n/a	n/a
2	E2F6	chr11:65153547-65154468	A549	lung:	n/a	chr11:65154061-65154070 chr11:65154167-65154176
3	POLR2A	chr11:65153602-65154471	U87	brain:	n/a	n/a
4	SP1	chr11:65153716-65154330	A549	lung:	n/a	chr11:65154062-65154071 chr11:65154060-65154072 chr11:65154060-65154071 chr11:65154061-65154070 chr11:65154060-65154072 chr11:65154061-65154071 chr11:65154061-65154071 chr11:65154057-65154071 chr11:65154062-65154071
5	MXI1	chr11:65153362-65155118	SK-N-SH	brain:	n/a	n/a
6	POU2F2	chr11:65153732-65154410	GM12878	blood:	n/a	chr11:65153934-65153946 chr11:65154343-65154355
7	TAF1	chr11:65153719-65154430	HepG2	liver:	n/a	n/a
8	ELF1	chr11:65153517-65154485	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:65153765-65154340	GM15510	blood:	n/a	n/a
10	TAF1	chr11:65153881-65154332	H1-neurons	neurons:	n/a	n/a
11	E2F6	chr11:65152944-65154465	K562	blood:	n/a	chr11:65154061-65154070 chr11:65154167-65154176
12	ZKSCAN1	chr11:65153843-65154284	Hela-S3	cervix:	n/a	n/a
13	HCFC1	chr11:65153499-65155063	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:65153762-65154339	GM19193	blood:	n/a	n/a
15	POLR2A	chr11:65153653-65154387	U87	brain:	n/a	n/a
16	POLR2A	chr11:65153864-65154327	GM10847	blood:	n/a	n/a
17	PML	chr11:65153685-65154386	K562	blood:	n/a	n/a
18	POLR2A	chr11:65153590-65154495	GM12892	blood:	n/a	n/a
19	ELF1	chr11:65153645-65154456	K562	blood:	n/a	n/a
20	SIN3A	chr11:65153984-65154537	H1-hESC	embryonic stem cell:	n/a	chr11:65154116-65154127 chr11:65154352-65154361
21	POLR2A	chr11:65153848-65154283	Hela-S3	cervix:	n/a	n/a
22	JUN	chr11:65153479-65154658	K562	blood:	n/a	chr11:65154037-65154046
23	POLR2A	chr11:65153756-65154358	GM18951	blood:	n/a	n/a
24	TAF1	chr11:65153871-65154298	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:65153786-65154332	K562	blood:	n/a	n/a
26	GTF2F1	chr11:65154218-65154285	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOXP2	chr11:65153819-65154412	PFSK-1	brain:	n/a	n/a
28	TAF1	chr11:65153545-65154617	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr11:65153678-65154522	HUVEC	blood vessel:	n/a	n/a
30	SIN3AK20	chr11:65153633-65154697	PANC-1	pancreas:	n/a	n/a
31	ELF1	chr11:65153787-65154385	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr11:65153498-65154531	SK-N-MC	brain:	n/a	n/a
33	ELF1	chr11:65153581-65154434	GM12878	blood:	n/a	n/a
34	MAZ	chr11:65153622-65155041	IMR90	lung:	n/a	n/a
35	USF1	chr11:65153530-65154349	ECC-1	luminal epithelium:	n/a	chr11:65153773-65153782 chr11:65153773-65153782
36	POLR2A	chr11:65153735-65154335	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:65153672-65154453	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr11:65153713-65154281	HepG2	liver:	n/a	n/a
39	HA-E2F1	chr11:65153693-65154477	MCF-7	breast:	n/a	chr11:65154131-65154142 chr11:65154061-65154070 chr11:65154167-65154176
40	POLR2A	chr11:65153762-65154462	MCF-7	breast:	n/a	n/a
41	PAX5	chr11:65153822-65154343	GM12892	blood:	n/a	n/a
42	E2F6	chr11:65153576-65154570	H1-hESC	embryonic stem cell:	n/a	chr11:65154061-65154070 chr11:65154167-65154176
43	POLR2A	chr11:65153755-65154394	GM12891	blood:	n/a	n/a
44	GABPA	chr11:65153796-65154294	A549	lung:	n/a	chr11:65154061-65154070
45	CREB1	chr11:65153659-65154297	A549	lung:	n/a	n/a
46	ELF1	chr11:65153960-65154286	A549	lung:	n/a	n/a
47	SP1	chr11:65153668-65154428	GM12878	blood:	n/a	chr11:65154062-65154071 chr11:65154060-65154072 chr11:65154060-65154071 chr11:65154061-65154070 chr11:65154060-65154072 chr11:65154061-65154071 chr11:65154061-65154071 chr11:65154057-65154071 chr11:65154062-65154071 chr11:65154341-65154351
48	POLR2A	chr11:65153682-65154553	MCF-7	breast:	n/a	n/a
49	POLR2A	chr11:65153661-65154350	GM12878	blood:	n/a	n/a
50	SIN3AK20	chr11:65153465-65154623	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
2	chr11:65153863..65156638-chr11:65338515..65340857,2	MCF-7	breast:
3	chr11:65153842..65155849-chr17:56735396..56736913,2	MCF-7	breast:

Variant related genes	Relation type
FRMD8	TF binding region
SLC25A45	TF binding region
ENSG00000176973	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1194336	0.83[AMR][1000 genomes]
rs12795699	0.83[AMR][1000 genomes]
rs1784102	0.83[AMR][1000 genomes]
rs472852	0.83[AMR][1000 genomes]
rs557777	1.00[AMR][1000 genomes]
rs590601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs624307	0.83[AMR][1000 genomes]
rs635411	0.85[AFR][1000 genomes]
rs683338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65153400-65154800	Active TSS	Brain Germinal Matrix	brain
2	chr11:65153600-65154400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:65153600-65154400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:65153600-65154600	Active TSS	Fetal Brain Female	brain
5	chr11:65153600-65154800	Active TSS	Aorta	Aorta
6	chr11:65153600-65154800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:65153600-65154800	Active TSS	Fetal Kidney	kidney
8	chr11:65153600-65154800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:65153600-65154800	Active TSS	Ovary	ovary
10	chr11:65153600-65155000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65153600-65155000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:65153600-65155000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:65153600-65155000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:65153600-65155000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr11:65153600-65155000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:65153600-65155000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:65153600-65155000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:65153600-65155000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:65153600-65155000	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr11:65153600-65155000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:65153600-65155000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:65153600-65155800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:65153800-65154400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:65153800-65154400	Active TSS	Brain Hippocampus Middle	brain
25	chr11:65153800-65154400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:65153800-65154600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:65153800-65154600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:65153800-65154600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:65153800-65154600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:65153800-65154600	Active TSS	Primary T cells from cord blood	blood
31	chr11:65153800-65154600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:65153800-65154600	Active TSS	Brain Angular Gyrus	brain
33	chr11:65153800-65154600	Active TSS	Colon Smooth Muscle	Colon
34	chr11:65153800-65154800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:65153800-65154800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:65153800-65154800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:65153800-65154800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:65153800-65154800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:65153800-65154800	Active TSS	Left Ventricle	heart
40	chr11:65153800-65154800	Active TSS	Small Intestine	intestine
41	chr11:65153800-65154800	Active TSS	Spleen	Spleen
42	chr11:65153800-65155000	Active TSS	Brain Substantia Nigra	brain
43	chr11:65153800-65155400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:65154000-65154400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:65154000-65154400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:65154000-65154400	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:65154000-65154400	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:65154000-65154400	Active TSS	Primary B cells from cord blood	blood
49	chr11:65154000-65154400	Active TSS	Primary B cells from peripheral blood	blood
50	chr11:65154000-65154400	Active TSS	Primary T cells fromperipheralblood	blood

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