Variant report

Variant	rs17243136
Chromosome Location	chr6:24668532-24668533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:24668391-24669280	K562	blood:	n/a	n/a
2	POLR2A	chr6:24668346-24669356	K562	blood:	n/a	n/a
3	POLR2A	chr6:24668367-24668562	A549	lung:	n/a	n/a
4	POLR2A	chr6:24668424-24668862	A549	lung:	n/a	n/a
5	TEAD4	chr6:24668442-24669384	K562	blood:	n/a	n/a
6	POLR2A	chr6:24668062-24668689	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr6:24668069-24668637	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:24666241-24669322	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:24668341-24668939	HL-60	blood:	n/a	n/a
10	POLR2A	chr6:24666488-24669678	K562	blood:	n/a	n/a
11	MAX	chr6:24668475-24669606	K562	blood:	n/a	n/a
12	MAX	chr6:24668487-24669109	A549	lung:	n/a	n/a
13	MAX	chr6:24668487-24668848	K562	blood:	n/a	n/a
14	POLR2A	chr6:24668429-24669311	K562	blood:	n/a	n/a
15	TAF1	chr6:24668530-24668916	K562	blood:	n/a	n/a
16	POLR2A	chr6:24668490-24669593	HL-60	blood:	n/a	n/a
17	PML	chr6:24668468-24669322	K562	blood:	n/a	n/a
18	CBX3	chr6:24668234-24669308	K562	blood:	n/a	n/a
19	POLR2A	chr6:24668030-24668972	K562	blood:	n/a	n/a
20	POLR2A	chr6:24666462-24668780	K562	blood:	n/a	n/a
21	POLR2A	chr6:24668404-24669402	K562	blood:	n/a	n/a
22	SP1	chr6:24668513-24669261	A549	lung:	n/a	n/a
23	POLR2A	chr6:24666425-24669426	K562	blood:	n/a	n/a
24	HEY1	chr6:24668289-24668974	K562	blood:	n/a	n/a
25	POLR2A	chr6:24668281-24669022	K562	blood:	n/a	n/a
26	MYC	chr6:24668467-24669703	K562	blood:	n/a	n/a
27	POLR2A	chr6:24666499-24669700	K562	blood:	n/a	n/a
28	HEY1	chr6:24668288-24669295	K562	blood:	n/a	n/a
29	POLR2A	chr6:24668282-24668545	A549	lung:	n/a	n/a
30	POLR2A	chr6:24668354-24668562	A549	lung:	n/a	n/a
31	POLR2A	chr6:24666489-24669560	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24523688..24526663-chr6:24667463..24669411,2	K562	blood:
2	chr6:24666490..24670247-chr6:24774150..24780460,9	K562	blood:
3	chr6:24645863..24648986-chr6:24665821..24668897,5	MCF-7	breast:
4	chr6:24665480..24670247-chr6:24773496..24779775,9	K562	blood:
5	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
6	chr6:24665745..24668755-chr6:24718443..24722281,4	MCF-7	breast:
7	chr6:24620860..24623023-chr6:24667310..24669178,2	K562	blood:
8	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDP2-1	chr6:24667807-24669720	ENSG00000249810

No data

Variant related genes	Relation type
TDP2	TF binding region
ENSG00000137261	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000112312	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11559067	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17243276	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17249561	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17249729	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17412874	1.00[AFR][1000 genomes]
rs3212238	0.82[EUR][1000 genomes]
rs62400556	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62400558	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62400559	0.82[EUR][1000 genomes]
rs62400760	0.82[EUR][1000 genomes]
rs62400773	0.82[EUR][1000 genomes]
rs62400774	0.82[EUR][1000 genomes]
rs62400783	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62400786	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62400787	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62400791	1.00[AFR][1000 genomes]
rs62400792	1.00[AFR][1000 genomes]
rs62400795	1.00[AFR][1000 genomes]
rs62402860	1.00[AFR][1000 genomes]
rs62402863	0.82[EUR][1000 genomes]
rs62402864	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24664000-24668600	Active TSS	Colonic Mucosa	Colon
2	chr6:24665800-24669800	Active TSS	A549	lung
3	chr6:24666000-24668600	Active TSS	HSMM	muscle
4	chr6:24666000-24669600	Active TSS	K562	blood
5	chr6:24666200-24669000	Active TSS	Rectal Smooth Muscle	rectum
6	chr6:24667600-24668600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr6:24667600-24669400	Flanking Active TSS	Dnd41	blood
8	chr6:24667800-24668600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:24667800-24668600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr6:24667800-24668600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:24667800-24668600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:24667800-24668600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:24667800-24668600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr6:24667800-24669000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:24667800-24669000	Enhancers	Spleen	Spleen
16	chr6:24668000-24668600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:24668000-24668600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:24668000-24668600	Enhancers	Primary B cells from cord blood	blood
19	chr6:24668000-24668600	Flanking Active TSS	Left Ventricle	heart
20	chr6:24668000-24668600	Enhancers	Lung	lung
21	chr6:24668000-24668600	Flanking Active TSS	GM12878-XiMat	blood
22	chr6:24668000-24668800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:24668000-24668800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:24668000-24669000	Enhancers	Gastric	stomach
25	chr6:24668000-24669000	Enhancers	Pancreas	Pancrea
26	chr6:24668000-24669000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:24668000-24669200	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:24668000-24676000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:24668200-24668600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:24668200-24668600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:24668200-24668600	Flanking Active TSS	Liver	Liver
32	chr6:24668200-24668600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:24668200-24668600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:24668200-24668600	Weak transcription	Right Atrium	heart
35	chr6:24668200-24668800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:24668200-24668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:24668200-24668800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:24668200-24668800	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:24668200-24669000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:24668200-24669000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:24668200-24669000	Enhancers	Brain Anterior Caudate	brain
42	chr6:24668200-24669000	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:24668200-24669000	Enhancers	Fetal Thymus	thymus
44	chr6:24668200-24669000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr6:24668200-24669000	Enhancers	Thymus	Thymus
46	chr6:24668200-24669000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr6:24668200-24669200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:24668200-24669200	Enhancers	Fetal Heart	heart
49	chr6:24668200-24669400	Enhancers	Primary hematopoietic stem cells	blood
50	chr6:24668200-24669400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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