Variant report

Variant	rs17243513
Chromosome Location	chr6:24664182-24664183
allele	G/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	POLR2A	chr6:24662292-24665727	K562	blood:	n/a	n/a
2	POLR2A	chr6:24660461-24664492	A549	lung:	n/a	n/a
3	HNF4A	chr6:24664180-24664651	HepG2	liver:	n/a	chr6:24664470-24664485

No.	Distal block	Cell Line	Cell type
1	chr6:24645025..24646837-chr6:24661272..24665022,3	MCF-7	breast:
2	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
3	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:

Variant related genes	Relation type
TDP2	TF binding region
ACOT13	TF binding region
ENSG00000137261	Chromatin interaction
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10085192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12393	0.82[ASN][1000 genomes]
rs16889581	1.00[ASN][1000 genomes]
rs17243493	1.00[EUR][1000 genomes]
rs17243499	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249952	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6907640	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461051	0.87[ASN][1000 genomes]
rs9467250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467261	0.87[ASN][1000 genomes]
rs9467263	0.87[ASN][1000 genomes]
rs9467265	0.87[ASN][1000 genomes]
rs9467267	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv601165	chr6:24632642-24666007	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:24647000-24666400	Weak transcription	Esophagus	oesophagus
3	chr6:24649400-24664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:24649400-24665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:24650000-24665000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:24653800-24666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:24654000-24665200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:24654200-24664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:24654200-24665000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:24654200-24665000	Weak transcription	Fetal Lung	lung
11	chr6:24654400-24665200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:24655400-24665000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:24656200-24665000	Weak transcription	Fetal Heart	heart
14	chr6:24656200-24666000	Weak transcription	Aorta	Aorta
15	chr6:24657400-24665400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:24658400-24664400	Strong transcription	Primary B cells from cord blood	blood
17	chr6:24658400-24665600	Strong transcription	HSMM	muscle
18	chr6:24659000-24665000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:24660000-24664400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:24660000-24665400	Weak transcription	NHDF-Ad	bronchial
21	chr6:24660200-24664600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:24660200-24665600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:24660400-24665000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:24660400-24665200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:24660600-24664400	Strong transcription	Adipose Nuclei	Adipose
26	chr6:24660600-24664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:24660600-24666200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:24660800-24664600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:24660800-24665000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:24660800-24665000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:24661000-24664400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:24661000-24664400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:24661000-24665000	Strong transcription	K562	blood
34	chr6:24661200-24665000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr6:24661200-24665000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:24661400-24664600	Strong transcription	GM12878-XiMat	blood
37	chr6:24661600-24664600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:24661600-24665000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:24661600-24665600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr6:24661800-24664200	Strong transcription	Primary T cells from cord blood	blood
41	chr6:24662000-24664800	Strong transcription	Placenta	Placenta
42	chr6:24662000-24665000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:24662200-24664400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:24662200-24664800	Strong transcription	Ovary	ovary
45	chr6:24662200-24665000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr6:24662200-24665000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr6:24662200-24665000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:24662200-24665000	Genic enhancers	Brain Hippocampus Middle	brain
49	chr6:24662200-24665000	Strong transcription	Fetal Stomach	stomach
50	chr6:24662200-24665400	Strong transcription	Fetal Muscle Leg	muscle

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