Variant report

Variant	rs1205739
Chromosome Location	chr11:65148813-65148814
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	ZEB1	chr11:65148066-65148818	HepG2	liver:	n/a	chr11:65148373-65148382 chr11:65148451-65148458 chr11:65148374-65148381 chr11:65148337-65148346
2	POLR2A	chr11:65148330-65148871	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:65148333-65148837	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65121664..65123613-chr11:65147869..65150112,2	MCF-7	breast:
2	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
3	chr11:65098911..65102850-chr11:65147012..65151675,4	MCF-7	breast:
4	chr11:64851366..64853197-chr11:65148381..65150307,2	MCF-7	breast:
5	chr11:65120584..65123151-chr11:65148447..65152021,3	K562	blood:
6	chr11:65148353..65151201-chr11:65310310..65312867,2	MCF-7	breast:
7	chr11:65148557..65151141-chr11:65342655..65344676,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A45	TF binding region
ENSG00000133884	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2239895	0.92[EUR][1000 genomes]
rs3741384	0.84[EUR][1000 genomes]
rs573864	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680413	1.00[EUR][1000 genomes]
rs7925823	1.00[EUR][1000 genomes];1.00[ASN][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:65138800-65149400	Weak transcription	Aorta	Aorta
4	chr11:65140000-65149200	Weak transcription	HSMM	muscle
5	chr11:65140400-65149200	Weak transcription	Right Atrium	heart
6	chr11:65141000-65149200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:65144200-65149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:65144800-65149200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:65145600-65149200	Weak transcription	Fetal Stomach	stomach
10	chr11:65145800-65149200	Weak transcription	Brain Substantia Nigra	brain
11	chr11:65146200-65150800	Enhancers	Gastric	stomach
12	chr11:65146400-65149200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:65146400-65149200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:65146800-65149400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:65146800-65149400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:65147200-65150800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:65147400-65149200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:65147400-65149200	Enhancers	Fetal Muscle Leg	muscle
19	chr11:65147400-65149200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:65147400-65149200	Weak transcription	HSMMtube	muscle
21	chr11:65147400-65149400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:65147600-65149200	Enhancers	Liver	Liver
23	chr11:65147600-65149200	Enhancers	Fetal Heart	heart
24	chr11:65147600-65149400	Enhancers	Colonic Mucosa	Colon
25	chr11:65147600-65149400	Enhancers	Stomach Mucosa	stomach
26	chr11:65147800-65149000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:65147800-65149000	Flanking Active TSS	Hela-S3	cervix
28	chr11:65147800-65149200	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:65147800-65149400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:65147800-65150800	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr11:65148000-65149000	Weak transcription	Primary T cells from cord blood	blood
32	chr11:65148000-65149200	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:65148200-65149200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:65148200-65149200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:65148200-65149200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:65148200-65149200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr11:65148200-65149200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:65148200-65149200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:65148200-65149200	Enhancers	Left Ventricle	heart
40	chr11:65148200-65149200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:65148200-65149400	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:65148200-65149400	Enhancers	Placenta	Placenta
43	chr11:65148200-65149400	Weak transcription	Small Intestine	intestine
44	chr11:65148200-65149400	Enhancers	Spleen	Spleen
45	chr11:65148200-65149400	Enhancers	HMEC	breast
46	chr11:65148200-65153800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:65148400-65149000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:65148400-65149000	Enhancers	K562	blood
49	chr11:65148400-65149200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:65148400-65149200	Enhancers	Primary monocytes fromperipheralblood	blood

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