Variant report

Variant	rs17300895
Chromosome Location	chr11:64334562-64334563
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	TCF7L2	chr11:64333431-64334629	HepG2	liver:	n/a	n/a
2	TCF7L2	chr11:64333612-64334639	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr11:64333943-64334598	IMR90	lung:	n/a	chr11:64334229-64334238
4	ATF3	chr11:64333986-64334576	HCT-116	colon:	n/a	n/a
5	TCF7L2	chr11:64333438-64334695	HEK293	kidney:	n/a	n/a
6	CEBPB	chr11:64333733-64334645	HCT-116	colon:	n/a	chr11:64334229-64334240
7	USF1	chr11:64333923-64334624	HCT-116	colon:	n/a	chr11:64334237-64334248

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64332541..64334832-chr11:64338629..64340699,2	MCF-7	breast:
2	chr11:64321862..64324415-chr11:64333143..64334878,2	K562	blood:

Variant related genes	Relation type
SLC22A11	TF binding region
ENSG00000168065	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11231815	0.92[ASN][1000 genomes]
rs11231822	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12362644	0.92[ASN][1000 genomes]
rs12808503	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17300741	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17372915	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2078267	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2277312	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34812986	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3759053	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3782099	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930195	0.92[ASN][1000 genomes]
rs4930426	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57827982	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591859	0.92[ASN][1000 genomes]
rs7102027	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7124676	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71456318	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7929308	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7940321	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7943154	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64331400-64336000	Enhancers	Placenta	Placenta
2	chr11:64332600-64335800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:64332800-64335800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:64333000-64334600	Weak transcription	Spleen	Spleen
5	chr11:64333000-64335600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:64333200-64334600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:64333200-64334800	Enhancers	K562	blood
8	chr11:64333200-64335800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr11:64333400-64334600	Enhancers	Fetal Intestine Small	intestine
10	chr11:64333400-64334800	Enhancers	Fetal Intestine Large	intestine
11	chr11:64333400-64334800	Enhancers	Fetal Thymus	thymus
12	chr11:64333400-64335200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:64333400-64336400	Enhancers	Fetal Muscle Leg	muscle
14	chr11:64333800-64334600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:64333800-64334600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:64333800-64334600	Flanking Active TSS	A549	lung
17	chr11:64333800-64334600	Flanking Active TSS	Hela-S3	cervix
18	chr11:64333800-64334600	Flanking Active TSS	NHEK	skin
19	chr11:64334000-64334600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:64334000-64334600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:64334000-64334600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:64334000-64334600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:64334000-64334600	Enhancers	Right Atrium	heart
24	chr11:64334000-64334800	Enhancers	Adipose Nuclei	Adipose
25	chr11:64334000-64334800	Flanking Active TSS	HepG2	liver
26	chr11:64334000-64335000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:64334000-64335000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:64334000-64335000	Enhancers	Brain Anterior Caudate	brain
29	chr11:64334000-64335000	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:64334000-64335000	Enhancers	Ovary	ovary
31	chr11:64334000-64335200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr11:64334200-64334600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:64334200-64334600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:64334200-64334600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:64334200-64334600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:64334200-64334600	Enhancers	Colonic Mucosa	Colon
37	chr11:64334200-64334600	Enhancers	Fetal Brain Male	brain
38	chr11:64334200-64334800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:64334200-64334800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:64334200-64334800	Enhancers	Esophagus	oesophagus
41	chr11:64334200-64335000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:64334200-64335000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:64334200-64335000	Enhancers	Liver	Liver
44	chr11:64334200-64335000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:64334200-64335200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:64334200-64336000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:64334400-64334600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr11:64334400-64334600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:64334400-64334600	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr11:64334400-64334600	Enhancers	Fetal Kidney	kidney

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