Variant report

Variant	rs140580139
Chromosome Location	chr6:26523397-26523398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:26523179-26523492	K562	blood:	n/a	n/a
2	UBTF	chr6:26523257-26523397	K562	blood:	n/a	n/a
3	TBL1XR1	chr6:26523198-26523435	K562	blood:	n/a	n/a
4	POLR2A	chr6:26523112-26523476	GM12878	blood:	n/a	n/a
5	FOS	chr6:26523156-26523444	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr6:26523144-26523443	K562	blood:	n/a	n/a
7	FOXA1	chr6:26523014-26523668	HepG2	liver:	n/a	n/a
8	ATF1	chr6:26523184-26523442	K562	blood:	n/a	n/a
9	CEBPB	chr6:26523074-26523399	K562	blood:	n/a	n/a
10	NR2F2	chr6:26521344-26523573	K562	blood:	n/a	n/a
11	POLR2A	chr6:26523152-26523428	GM12878	blood:	n/a	n/a
12	CEBPD	chr6:26523025-26523523	K562	blood:	n/a	n/a
13	POLR2A	chr6:26523159-26523439	K562	blood:	n/a	n/a
14	MYC	chr6:26523174-26523403	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr6:26522789-26523530	K562	blood:	n/a	n/a
16	FOS	chr6:26523161-26523397	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:26521719-26523709	Hela-S3	cervix:	n/a	n/a
18	JUND	chr6:26523167-26523410	HepG2	liver:	n/a	n/a
19	FOS	chr6:26523157-26523458	MCF10A-Er-Src	breast:	n/a	n/a
20	HEY1	chr6:26523175-26523474	K562	blood:	n/a	n/a
21	TAF1	chr6:26523143-26523427	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr6:26523148-26523416	Hela-S3	cervix:	n/a	n/a
23	FOSL2	chr6:26523125-26523421	HepG2	liver:	n/a	n/a
24	CEBPB	chr6:26523078-26523399	Hela-S3	cervix:	n/a	n/a
25	HEY1	chr6:26523145-26523692	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26522739..26526214-chr6:26594718..26597971,4	K562	blood:
2	chr6:26520764..26524239-chr6:26594606..26597481,4	K562	blood:
3	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
4	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
5	chr6:26520458..26524632-chr6:26536427..26540091,8	MCF-7	breast:
6	chr6:26352931..26356420-chr6:26520848..26524138,3	K562	blood:
7	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
8	chr6:26203687..26207464-chr6:26521178..26524047,5	K562	blood:
9	chr6:26215412..26219085-chr6:26518224..26524021,6	K562	blood:
10	chr6:26400255..26403237-chr6:26521906..26524697,3	K562	blood:
11	chr6:26521728..26524870-chr6:26525559..26528465,3	MCF-7	breast:
12	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
ENSG00000252399	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000261353	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000026950	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000187990	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26520600-26523400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:26520600-26523400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:26520600-26523400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:26520600-26523400	Active TSS	Brain Substantia Nigra	brain
5	chr6:26520600-26523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:26520600-26523800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:26520600-26523800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:26520600-26524400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:26520800-26523400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:26520800-26523400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:26520800-26523400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:26520800-26523400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:26520800-26523400	Active TSS	Fetal Kidney	kidney
14	chr6:26520800-26523600	Active TSS	Thymus	Thymus
15	chr6:26521000-26523400	Active TSS	Fetal Muscle Trunk	muscle
16	chr6:26521000-26523400	Active TSS	Osteobl	bone
17	chr6:26521000-26523600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:26521000-26523600	Active TSS	Hela-S3	cervix
19	chr6:26521000-26523600	Active TSS	NHDF-Ad	bronchial
20	chr6:26521000-26524000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:26521000-26524000	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr6:26521000-26524400	Active TSS	GM12878-XiMat	blood
23	chr6:26521600-26523600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:26521600-26523600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:26522200-26523800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:26522600-26523400	Enhancers	Primary T cells from cord blood	blood
27	chr6:26522600-26523400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:26522600-26523400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:26522600-26524400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:26522600-26525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:26522600-26533200	Weak transcription	NHLF	lung
32	chr6:26522800-26523400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:26522800-26523400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr6:26522800-26523400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:26522800-26523400	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:26522800-26523400	Active TSS	Duodenum Mucosa	Duodenum
37	chr6:26522800-26523400	Flanking Active TSS	Fetal Lung	lung
38	chr6:26522800-26523400	Active TSS	Fetal Thymus	thymus
39	chr6:26522800-26523400	Enhancers	NH-A	brain
40	chr6:26522800-26523600	Enhancers	Fetal Heart	heart
41	chr6:26522800-26524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:26522800-26524000	Active TSS	K562	blood
43	chr6:26522800-26524200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:26522800-26524200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:26522800-26524400	Enhancers	Rectal Smooth Muscle	rectum
46	chr6:26522800-26526600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:26522800-26530200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:26522800-26533200	Weak transcription	Ovary	ovary
49	chr6:26523000-26523400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr6:26523000-26523400	Enhancers	Primary T helper cells PMA-I stimulated	--

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