Variant report

Variant	rs17243534
Chromosome Location	chr6:24660943-24660944
allele	A/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	POLR2A	chr6:24660461-24664492	A549	lung:	n/a	n/a
2	POLR2A	chr6:24658545-24662041	K562	blood:	n/a	n/a
3	POLR2A	chr6:24660788-24660952	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:24630057..24632669-chr6:24659519..24661974,2	K562	blood:
2	chr6:24645396..24648552-chr6:24658188..24661192,4	K562	blood:
3	chr6:24645396..24648521-chr6:24658092..24661192,3	K562	blood:
4	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17249876	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17249931	1.00[AMR][1000 genomes]
rs2745335	1.00[AMR][1000 genomes]
rs2760158	1.00[AMR][1000 genomes]
rs2817196	1.00[AMR][1000 genomes]
rs2817197	1.00[AMR][1000 genomes]
rs2817199	1.00[AMR][1000 genomes]
rs4712834	1.00[AMR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646800-24662400	Weak transcription	Right Ventricle	heart
2	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
3	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:24647000-24662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:24647000-24662400	Weak transcription	Lung	lung
6	chr6:24647000-24662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:24647000-24666400	Weak transcription	Esophagus	oesophagus
8	chr6:24647200-24663400	Weak transcription	Fetal Kidney	kidney
9	chr6:24649400-24664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:24649400-24665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:24650000-24663600	Strong transcription	Dnd41	blood
12	chr6:24650000-24665000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:24652400-24662800	Weak transcription	Psoas Muscle	Psoas
14	chr6:24653400-24662600	Weak transcription	NHLF	lung
15	chr6:24653800-24662200	Weak transcription	Fetal Stomach	stomach
16	chr6:24653800-24662200	Weak transcription	Ovary	ovary
17	chr6:24653800-24662400	Weak transcription	Colonic Mucosa	Colon
18	chr6:24653800-24662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:24653800-24663800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:24653800-24666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:24654000-24662600	Weak transcription	HSMMtube	muscle
22	chr6:24654000-24663200	Weak transcription	Fetal Brain Male	brain
23	chr6:24654000-24665200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:24654200-24661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:24654200-24661600	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:24654200-24662200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:24654200-24662400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:24654200-24662400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:24654200-24663400	Weak transcription	Brain Anterior Caudate	brain
30	chr6:24654200-24664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:24654200-24665000	Weak transcription	Brain Substantia Nigra	brain
32	chr6:24654200-24665000	Weak transcription	Fetal Lung	lung
33	chr6:24654400-24662200	Weak transcription	Fetal Brain Female	brain
34	chr6:24654400-24662400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:24654400-24663200	Weak transcription	Brain Angular Gyrus	brain
36	chr6:24654400-24665200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:24655000-24662600	Weak transcription	Liver	Liver
38	chr6:24655400-24665000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:24656000-24662600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr6:24656000-24662800	Weak transcription	Pancreas	Pancrea
41	chr6:24656000-24663000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:24656000-24663600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:24656000-24663800	Strong transcription	Fetal Thymus	thymus
44	chr6:24656200-24662200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:24656200-24662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:24656200-24662400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:24656200-24662400	Weak transcription	Left Ventricle	heart
48	chr6:24656200-24662600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:24656200-24663000	Weak transcription	Gastric	stomach
50	chr6:24656200-24663400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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