Variant report

Variant	rs564138219
Chromosome Location	chr6:26522556-26522557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr6:26522165-26522591	K562	blood:	n/a	n/a
2	POLR2A	chr6:26521854-26522672	MCF-7	breast:	n/a	n/a
3	YY1	chr6:26521820-26522678	GM12878	blood:	n/a	chr6:26522056-26522070
4	POLR2A	chr6:26521866-26522667	K562	blood:	n/a	n/a
5	MAX	chr6:26521343-26522749	A549	lung:	n/a	n/a
6	YY1	chr6:26521893-26522739	K562	blood:	n/a	chr6:26522056-26522070
7	MXI1	chr6:26522503-26522585	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr6:26521806-26522903	GM12878	blood:	n/a	n/a
9	E2F6	chr6:26521766-26522609	A549	lung:	n/a	n/a
10	TCF12	chr6:26521113-26522795	A549	lung:	n/a	chr6:26521356-26521366
11	YY1	chr6:26521874-26522756	H1-hESC	embryonic stem cell:	n/a	chr6:26522056-26522070
12	YY1	chr6:26521862-26522642	A549	lung:	n/a	chr6:26522056-26522070
13	POLR2A	chr6:26521825-26522683	K562	blood:	n/a	n/a
14	YY1	chr6:26521824-26522643	H1-hESC	embryonic stem cell:	n/a	chr6:26522056-26522070
15	POLR2A	chr6:26521868-26522696	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:26522489-26522561	Gliobla	brain:	n/a	n/a
17	HEY1	chr6:26521833-26522726	K562	blood:	n/a	n/a
18	CBX3	chr6:26521223-26522686	K562	blood:	n/a	n/a
19	MTA3	chr6:26521153-26522792	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:26522533-26522583	MCF-7	breast:	n/a	n/a
21	MAX	chr6:26520363-26522824	A549	lung:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
22	POLR2A	chr6:26521112-26522749	PFSK-1	brain:	n/a	n/a
23	ETS1	chr6:26521825-26522566	K562	blood:	n/a	n/a
24	POLR2A	chr6:26521880-26522557	A549	lung:	n/a	n/a
25	SP1	chr6:26522281-26522581	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:26521833-26522664	GM12878	blood:	n/a	n/a
27	TAF1	chr6:26521703-26522766	H1-hESC	embryonic stem cell:	n/a	n/a
28	STAT5A	chr6:26521740-26522577	K562	blood:	n/a	n/a
29	IRF4	chr6:26522258-26522785	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:26522340-26522642	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:26521895-26522562	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:26520385-26522995	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr6:26521860-26522691	GM12878	blood:	n/a	chr6:26522056-26522070
34	TAF1	chr6:26521816-26522831	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:26521782-26522665	K562	blood:	n/a	n/a
36	POLR2A	chr6:26521883-26522688	GM12878	blood:	n/a	n/a
37	REST	chr6:26522408-26522597	A549	lung:	n/a	n/a
38	POLR2A	chr6:26521101-26522765	GM12892	blood:	n/a	n/a
39	HEY1	chr6:26521850-26523103	K562	blood:	n/a	n/a
40	MAX	chr6:26521776-26522566	MCF-7	breast:	n/a	n/a
41	KAP1	chr6:26521969-26522679	HEK293	kidney:	n/a	n/a
42	MYC	chr6:26522014-26522634	MCF-7	breast:	n/a	n/a
43	NR2F2	chr6:26521344-26523573	K562	blood:	n/a	n/a
44	POLR2A	chr6:26520770-26522683	Hela-S3	cervix:	n/a	n/a
45	TEAD4	chr6:26521101-26522797	K562	blood:	n/a	n/a
46	SIN3AK20	chr6:26521824-26522799	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2F1	chr6:26522469-26522628	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr6:26521749-26522665	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:26521905-26522584	MCF-7	breast:	n/a	n/a
50	MAX	chr6:26521820-26522568	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26101462..26104336-chr6:26520946..26522887,2	MCF-7	breast:
2	chr6:26383299..26384986-chr6:26520070..26522600,2	K562	blood:
3	chr6:26420252..26422779-chr6:26519711..26522673,2	K562	blood:
4	chr6:26198124..26199998-chr6:26520705..26522799,2	K562	blood:
5	chr6:26520764..26524239-chr6:26594606..26597481,4	K562	blood:
6	chr6:26234528..26236146-chr6:26520612..26523386,2	K562	blood:
7	chr1:148241128..148242065-chr6:26522075..26522709,2	Hela-S3	cervix:
8	chr6:26195075..26199998-chr6:26518402..26523264,7	K562	blood:
9	chr16:31191297..31191881-chr6:26521900..26522799,2	Hela-S3	cervix:
10	chr6:26518768..26523261-chr6:26527138..26531427,8	MCF-7	breast:
11	chr6:26217116..26219858-chr6:26520988..26523268,4	K562	blood:
12	chr6:26187831..26190328-chr6:26520761..26523308,3	K562	blood:
13	chr6:26122811..26125684-chr6:26519933..26522732,4	K562	blood:
14	chr6:6857012..6857665-chr6:26522158..26523073,2	Hela-S3	cervix:
15	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
16	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
17	chr6:26520627..26522671-chr6:26536742..26539578,4	MCF-7	breast:
18	chr6:26520458..26524632-chr6:26536427..26540091,8	MCF-7	breast:
19	chr6:26352931..26356420-chr6:26520848..26524138,3	K562	blood:
20	chr6:26522198..26522805-chr7:86781872..86782576,2	Hela-S3	cervix:
21	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
22	chr6:26203687..26207464-chr6:26521178..26524047,5	K562	blood:
23	chr6:26420245..26422646-chr6:26519763..26522632,2	K562	blood:
24	chr6:26399787..26402548-chr6:26520304..26522588,2	K562	blood:
25	chr6:26215412..26219085-chr6:26518224..26524021,6	K562	blood:
26	chr6:26122246..26124996-chr6:26519353..26522732,3	K562	blood:
27	chr6:26187760..26190799-chr6:26518890..26523308,5	K562	blood:
28	chr6:26400255..26403237-chr6:26521906..26524697,3	K562	blood:
29	chr6:26521728..26524870-chr6:26525559..26528465,3	MCF-7	breast:
30	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
31	chr6:26360935..26366570-chr6:26520779..26523276,5	K562	blood:
32	chr6:26439181..26441832-chr6:26522312..26525308,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-502P	TF binding region
ENSG00000261353	TF binding region
ENSG00000198518	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000186470	Chromatin interaction
ENSG00000261353	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000215979	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000026950	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000124549	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000252399	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000207501	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv3374626	chr6:26520998-26523546	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
6	nsv965690	chr6:26522364-26528458	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr6:26520400-26522800	Active TSS	Brain Angular Gyrus	brain
2	chr6:26520400-26522800	Active TSS	Fetal Lung	lung
3	chr6:26520400-26522800	Active TSS	HSMMtube	muscle
4	chr6:26520400-26523000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:26520400-26523000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:26520400-26523200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:26520600-26522600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:26520600-26522800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:26520600-26522800	Active TSS	Colonic Mucosa	Colon
10	chr6:26520600-26522800	Active TSS	Fetal Brain Female	brain
11	chr6:26520600-26522800	Active TSS	Ovary	ovary
12	chr6:26520600-26522800	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr6:26520600-26523000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:26520600-26523000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:26520600-26523000	Active TSS	Psoas Muscle	Psoas
16	chr6:26520600-26523200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:26520600-26523200	Active TSS	Fetal Stomach	stomach
18	chr6:26520600-26523400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:26520600-26523400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:26520600-26523400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:26520600-26523400	Active TSS	Brain Substantia Nigra	brain
22	chr6:26520600-26523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:26520600-26523800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:26520600-26523800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:26520600-26524400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:26520800-26522600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr6:26520800-26522600	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr6:26520800-26522600	Active TSS	Aorta	Aorta
29	chr6:26520800-26522600	Active TSS	NHLF	lung
30	chr6:26520800-26522800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:26520800-26522800	Active TSS	Brain Hippocampus Middle	brain
32	chr6:26520800-26522800	ZNF genes & repeats	Fetal Brain Male	brain
33	chr6:26520800-26522800	Active TSS	Lung	lung
34	chr6:26520800-26522800	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:26520800-26522800	Active TSS	Right Ventricle	heart
36	chr6:26520800-26523000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:26520800-26523000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:26520800-26523000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:26520800-26523000	Active TSS	Brain Anterior Caudate	brain
40	chr6:26520800-26523000	Active TSS	Brain Cingulate Gyrus	brain
41	chr6:26520800-26523000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:26520800-26523000	Active TSS	Fetal Intestine Large	intestine
43	chr6:26520800-26523200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:26520800-26523200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:26520800-26523200	Active TSS	Fetal Muscle Leg	muscle
46	chr6:26520800-26523400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:26520800-26523400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:26520800-26523400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr6:26520800-26523400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:26520800-26523400	Active TSS	Fetal Kidney	kidney

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