Variant report

Variant	rs113997883
Chromosome Location	chr7:6143406-6143407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6143393-6143821	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr7:6142253-6143715	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:6143405-6143429	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:6143372-6143846	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:6143264-6143693	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:6143293-6143493	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:6142181-6143703	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr7:6143228-6143773	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr7:6142086-6143833	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:6143041-6143811	K562	blood:	n/a	n/a
11	POLR2A	chr7:6143378-6143702	GM12892	blood:	n/a	n/a
12	HEY1	chr7:6143353-6143733	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:6143000-6143773	K562	blood:	n/a	n/a
14	POLR2A	chr7:6142857-6143833	HL-60	blood:	n/a	n/a
15	HEY1	chr7:6143071-6143799	K562	blood:	n/a	n/a
16	POLR2A	chr7:6142977-6144904	K562	blood:	n/a	n/a
17	POLR2A	chr7:6143074-6143812	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr7:6143027-6143483	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:6143005-6143512	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr7:6141885-6144613	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr7:6143172-6143702	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:6142013-6143811	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr7:6142496-6144764	IMR90	lung:	n/a	n/a
24	POLR2A	chr7:6143039-6143771	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:6142982-6143801	GM12892	blood:	n/a	n/a
26	POLR2A	chr7:6141526-6144821	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:6143174-6143825	GM12892	blood:	n/a	n/a
28	UBTF	chr7:6143398-6143621	K562	blood:	n/a	n/a
29	POLR2A	chr7:6143292-6144878	Hela-S3	cervix:	n/a	n/a
30	ZNF384	chr7:6143148-6143497	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6046967..6050535-chr7:6141219..6149580,10	K562	blood:
2	chr7:6119410..6124898-chr7:6141396..6145150,7	MCF-7	breast:
3	chr7:6064661..6068184-chr7:6142795..6145849,5	MCF-7	breast:
4	chr7:6096872..6099965-chr7:6142845..6147736,5	MCF-7	breast:
5	chr7:6118710..6122632-chr7:6142742..6146844,10	K562	blood:
6	chr7:6055602..6058271-chr7:6142750..6144893,2	MCF-7	breast:
7	chr7:6084295..6085840-chr7:6140826..6143593,2	K562	blood:
8	chr7:6047404..6049912-chr7:6142714..6146343,4	MCF-7	breast:
9	chr7:6047026..6051403-chr7:6141746..6146462,7	K562	blood:
10	chr7:6100114..6101811-chr7:6141887..6144361,2	K562	blood:
11	chr7:6141805..6147526-chr7:6152442..6159269,12	MCF-7	breast:
12	chr7:6110355..6112451-chr7:6141705..6143583,2	K562	blood:
13	chr7:6119521..6122293-chr7:6142698..6146719,8	K562	blood:
14	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
15	chr7:6065831..6068709-chr7:6141820..6144838,4	MCF-7	breast:
16	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
17	chr7:6062330..6064601-chr7:6141391..6143688,2	MCF-7	breast:
18	chr7:6094497..6101614-chr7:6140891..6145784,14	K562	blood:
19	chr7:6127500..6130529-chr7:6140681..6143799,3	MCF-7	breast:
20	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:
21	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
22	chr7:6054346..6056159-chr7:6142852..6144380,2	K562	blood:
23	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:

No data

Variant related genes	Relation type
USP42	TF binding region
ENSG00000231704	Chromatin interaction
ENSG00000106305	Chromatin interaction
ENSG00000207217	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000269781	Chromatin interaction
ENSG00000264605	Chromatin interaction
ENSG00000008256	Chromatin interaction
ENSG00000252929	Chromatin interaction
ENSG00000136240	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
14	nsv5628	chr7:6105462-6147148	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	esv13824	chr7:6123263-6144717	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
16	esv3419592	chr7:6142526-6147024	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	esv3421072	chr7:6143276-6146174	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6139200-6144000	Weak transcription	Spleen	Spleen
2	chr7:6142600-6143600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6142600-6143600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:6142600-6143600	Enhancers	Fetal Brain Male	brain
5	chr7:6142600-6143800	Flanking Active TSS	Dnd41	blood
6	chr7:6142800-6143600	Enhancers	Brain Cingulate Gyrus	brain
7	chr7:6142800-6144400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:6143000-6143600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:6143000-6143600	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:6143000-6143600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:6143000-6143600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:6143000-6143800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:6143200-6143600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:6143200-6143600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:6143200-6143600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:6143200-6143600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:6143200-6143600	Flanking Active TSS	GM12878-XiMat	blood
18	chr7:6143200-6143600	Flanking Active TSS	HepG2	liver
19	chr7:6143200-6143600	Flanking Active TSS	K562	blood
20	chr7:6143200-6143800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:6143200-6143800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:6143200-6143800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:6143200-6143800	Enhancers	Fetal Heart	heart
24	chr7:6143200-6144000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr7:6143200-6144400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:6143200-6144400	Active TSS	A549	lung
27	chr7:6143200-6145200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:6143200-6145600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:6143200-6146200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:6143200-6146200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:6143200-6146200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:6143200-6146400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:6143400-6143600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:6143400-6143600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:6143400-6143600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:6143400-6143600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:6143400-6143600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:6143400-6143600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:6143400-6143600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:6143400-6143600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:6143400-6143600	Enhancers	Lung	lung
42	chr7:6143400-6143600	Flanking Active TSS	Psoas Muscle	Psoas
43	chr7:6143400-6143600	Flanking Active TSS	Right Ventricle	heart
44	chr7:6143400-6143600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr7:6143400-6143600	Flanking Active TSS	NHEK	skin
46	chr7:6143400-6143800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:6143400-6143800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:6143400-6143800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:6143400-6143800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:6143400-6143800	Flanking Active TSS	Primary T cells from cord blood	blood

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