Variant report

Variant	rs7925823
Chromosome Location	chr11:65146257-65146258
allele	C/T
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	PAX5	chr11:65145779-65146268	GM12878	blood:	n/a	n/a
2	RAD21	chr11:65145961-65146340	A549	lung:	n/a	chr11:65146160-65146179
3	RAD21	chr11:65145899-65146455	HCT-116	colon:	n/a	chr11:65146160-65146179
4	RAD21	chr11:65145923-65146432	ECC-1	luminal epithelium:	n/a	chr11:65146160-65146179
5	CTCF	chr11:65146120-65146270	HCPEpiC	choroid plexus:	n/a	chr11:65146159-65146177
6	RAD21	chr11:65145855-65146435	HCT-116	colon:	n/a	chr11:65146160-65146179
7	RAD21	chr11:65146059-65146292	HepG2	liver:	n/a	chr11:65146160-65146179
8	RAD21	chr11:65146072-65146283	A549	lung:	n/a	chr11:65146160-65146179
9	RAD21	chr11:65146001-65146375	H1-hESC	embryonic stem cell:	n/a	chr11:65146160-65146179
10	RAD21	chr11:65146058-65146274	Hela-S3	cervix:	n/a	chr11:65146160-65146179
11	CTCF	chr11:65145952-65146280	A549	lung:	n/a	chr11:65146260-65146273 chr11:65146023-65146036 chr11:65146159-65146177
12	RAD21	chr11:65146007-65146360	H1-hESC	embryonic stem cell:	n/a	chr11:65146160-65146179
13	ESR1	chr11:65146225-65146518	T-47D	breast:	n/a	n/a
14	SPI1	chr11:65145399-65146362	GM12878	blood:	n/a	chr11:65145884-65145897 chr11:65145877-65145890
15	RAD21	chr11:65145895-65146391	HepG2	liver:	n/a	chr11:65146160-65146179
16	HNF4A	chr11:65146026-65146279	HepG2	liver:	n/a	chr11:65146103-65146117 chr11:65146102-65146117 chr11:65146104-65146116 chr11:65146105-65146113 chr11:65146104-65146116 chr11:65146101-65146119 chr11:65146104-65146116
17	CTCF	chr11:65146081-65146270	GM19238	blood:	n/a	chr11:65146159-65146177
18	RAD21	chr11:65145908-65146386	H1-hESC	embryonic stem cell:	n/a	chr11:65146160-65146179
19	CTCF	chr11:65146120-65146270	GM12873	blood:	n/a	chr11:65146159-65146177
20	CTCF	chr11:65146240-65146390	A549	lung:	n/a	chr11:65146260-65146273
21	CTCF	chr11:65145978-65146265	H1-hESC	embryonic stem cell:	n/a	chr11:65146023-65146036 chr11:65146159-65146177
22	RAD21	chr11:65145960-65146290	SK-N-SH_RA	brain:	n/a	chr11:65146160-65146179
23	CTCF	chr11:65146014-65146265	GM12878	blood:	n/a	chr11:65146023-65146036 chr11:65146159-65146177
24	HDAC2	chr11:65146028-65146287	HepG2	liver:	n/a	n/a
25	CTCF	chr11:65146220-65146370	A549	lung:	n/a	chr11:65146260-65146273
26	ESR1	chr11:65145920-65146333	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr11:65146160-65146310	Hela-S3	cervix:	n/a	chr11:65146260-65146273
28	CTCF	chr11:65146140-65146290	GM12871	blood:	n/a	chr11:65146260-65146273 chr11:65146159-65146177
29	CTCF	chr11:65146103-65146276	GM19239	blood:	n/a	chr11:65146260-65146273 chr11:65146159-65146177
30	CTCF	chr11:65146160-65146310	GM12873	blood:	n/a	chr11:65146260-65146273
31	CTCF	chr11:65146140-65146290	HEK293	kidney:	n/a	chr11:65146260-65146273 chr11:65146159-65146177
32	CTCF	chr11:65145984-65146276	A549	lung:	n/a	chr11:65146260-65146273 chr11:65146023-65146036 chr11:65146159-65146177
33	E2F6	chr11:65146119-65146468	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:65146069-65146277	Hela-S3	cervix:	n/a	chr11:65146260-65146273 chr11:65146159-65146177
35	CTCF	chr11:65146120-65146270	HepG2	liver:	n/a	chr11:65146159-65146177
36	RAD21	chr11:65146060-65146286	HepG2	liver:	n/a	chr11:65146160-65146179
37	RAD21	chr11:65145918-65146486	A549	lung:	n/a	chr11:65146160-65146179
38	CTCF	chr11:65146120-65146270	WERI-Rb-1	eye:	n/a	chr11:65146159-65146177
39	CTCF	chr11:65146087-65146267	MCF-7	breast:	n/a	chr11:65146159-65146177
40	CTCF	chr11:65146160-65146310	HA-sp	spinal cord:	n/a	chr11:65146260-65146273

No.	Distal block	Cell Line	Cell type
1	chr11:65146093..65146890-chr11:65339332..65339956,2	MCF-7	breast:
2	chr11:65144119..65146511-chr11:65485496..65488030,2	K562	blood:
3	chr11:65145713..65148511-chr11:65656640..65659365,2	MCF-7	breast:
4	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
5	chr11:65145756..65147561-chr11:65226318..65228279,2	K562	blood:

Variant related genes	Relation type
SLC25A45	TF binding region
ENSG00000270117	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11602839	0.88[CHB][hapmap]
rs1205739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073801	0.91[CHB][hapmap]
rs2239895	0.92[EUR][1000 genomes]
rs2307264	1.00[CEU][hapmap]
rs2904976	0.91[CHB][hapmap]
rs3741384	0.91[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs573864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666834	0.91[CHB][hapmap]
rs680413	0.91[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65134200-65146400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr11:65134200-65147200	Weak transcription	Fetal Thymus	thymus
3	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:65135600-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:65138800-65147200	Weak transcription	Lung	lung
7	chr11:65138800-65147600	Weak transcription	Right Ventricle	heart
8	chr11:65138800-65149400	Weak transcription	Aorta	Aorta
9	chr11:65139200-65146600	Weak transcription	HSMMtube	muscle
10	chr11:65139200-65148200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:65139400-65147800	Weak transcription	Psoas Muscle	Psoas
12	chr11:65139400-65148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:65140000-65148400	Weak transcription	K562	blood
14	chr11:65140000-65149200	Weak transcription	HSMM	muscle
15	chr11:65140400-65149200	Weak transcription	Right Atrium	heart
16	chr11:65141000-65149200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:65141600-65148400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:65142000-65147400	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:65142000-65148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:65142000-65148200	Weak transcription	Left Ventricle	heart
21	chr11:65142200-65148200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:65142600-65148000	Strong transcription	Primary T cells from cord blood	blood
23	chr11:65143000-65147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:65143000-65148200	Weak transcription	HMEC	breast
25	chr11:65143000-65148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:65143200-65147400	Weak transcription	Esophagus	oesophagus
27	chr11:65143200-65147400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:65143200-65148200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:65144000-65148000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr11:65144200-65148200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:65144200-65148200	Strong transcription	Thymus	Thymus
32	chr11:65144200-65149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:65144400-65146400	Enhancers	Primary B cells from cord blood	blood
34	chr11:65144600-65147600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:65144800-65149200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:65145000-65146400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:65145000-65146600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:65145000-65146800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:65145200-65146800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:65145200-65148400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:65145400-65146400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:65145400-65146400	Enhancers	Adipose Nuclei	Adipose
43	chr11:65145400-65146400	Enhancers	Placenta	Placenta
44	chr11:65145400-65146400	Genic enhancers	Spleen	Spleen
45	chr11:65145400-65147200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:65145400-65147600	Weak transcription	Fetal Heart	heart
47	chr11:65145400-65148200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:65145600-65146400	Enhancers	Colonic Mucosa	Colon
49	chr11:65145600-65146600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr11:65145600-65147200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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