Variant report

Variant	rs17243599
Chromosome Location	chr6:24652020-24652021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24645419..24648668-chr6:24649660..24654397,7	K562	blood:
2	chr6:24645187..24649410-chr6:24651412..24654746,5	K562	blood:
3	chr6:24650945..24654399-chr6:24657634..24660021,4	K562	blood:
4	chr6:24651935..24653772-chr6:44213689..44215301,2	MCF-7	breast:
5	chr6:24650977..24653487-chr6:24654406..24656645,3	MCF-7	breast:
6	chr6:24649500..24652136-chr6:24718347..24721312,2	K562	blood:

Variant related genes	Relation type
ENSG00000137261	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17249883	1.00[AMR][1000 genomes]
rs17249945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57712597	1.00[EUR][1000 genomes]
rs73394508	1.00[EUR][1000 genomes]
rs73394533	1.00[EUR][1000 genomes]
rs73394535	1.00[EUR][1000 genomes]
rs73394540	1.00[EUR][1000 genomes]
rs7746100	1.00[EUR][1000 genomes]
rs7746108	1.00[EUR][1000 genomes]
rs7746281	1.00[EUR][1000 genomes]
rs7746669	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv601164	chr6:24625091-24661599	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646400-24658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:24646600-24652200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:24646600-24655800	Weak transcription	Aorta	Aorta
4	chr6:24646800-24652400	Weak transcription	Fetal Lung	lung
5	chr6:24646800-24652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:24646800-24652600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:24646800-24653000	Weak transcription	HSMMtube	muscle
8	chr6:24646800-24653200	Weak transcription	Fetal Brain Male	brain
9	chr6:24646800-24653200	Weak transcription	Gastric	stomach
10	chr6:24646800-24655600	Weak transcription	Pancreas	Pancrea
11	chr6:24646800-24662400	Weak transcription	Right Ventricle	heart
12	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
13	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:24647000-24652200	Weak transcription	Primary B cells from cord blood	blood
15	chr6:24647000-24652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:24647000-24652200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:24647000-24652200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:24647000-24652200	Weak transcription	Brain Angular Gyrus	brain
19	chr6:24647000-24652200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:24647000-24652200	Weak transcription	Brain Germinal Matrix	brain
21	chr6:24647000-24652200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:24647000-24652400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:24647000-24653000	Weak transcription	HUVEC	blood vessel
24	chr6:24647000-24653200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:24647000-24659000	Weak transcription	Stomach Mucosa	stomach
26	chr6:24647000-24662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:24647000-24662400	Weak transcription	Lung	lung
28	chr6:24647000-24662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:24647000-24666400	Weak transcription	Esophagus	oesophagus
30	chr6:24647200-24652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:24647200-24652200	Weak transcription	NHEK	skin
32	chr6:24647200-24652400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:24647200-24652600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:24647200-24652800	Weak transcription	HMEC	breast
35	chr6:24647200-24663400	Weak transcription	Fetal Kidney	kidney
36	chr6:24649400-24654200	Strong transcription	Primary T cells from cord blood	blood
37	chr6:24649400-24654600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:24649400-24654800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:24649400-24656600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:24649400-24659200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:24649400-24659600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:24649400-24664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:24649400-24665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:24649800-24654800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:24649800-24655600	Strong transcription	Fetal Thymus	thymus
46	chr6:24649800-24656200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:24650000-24653200	Strong transcription	Fetal Intestine Large	intestine
48	chr6:24650000-24654000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:24650000-24654200	Strong transcription	Brain Hippocampus Middle	brain
50	chr6:24650000-24657400	Strong transcription	Primary monocytes fromperipheralblood	blood

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