Variant report

Variant	rs189454458
Chromosome Location	chr7:66118770-66118771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:66118246-66120883	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:66117540-66120560	GM12878	blood:	n/a	n/a
3	MAX	chr7:66118758-66120178	HCT-116	colon:	n/a	n/a
4	HCFC1	chr7:66118714-66120344	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:66118697-66118801	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chr7:66118658-66120399	K562	blood:	n/a	n/a
7	PAX5	chr7:66118422-66118781	GM12878	blood:	n/a	n/a
8	MAZ	chr7:66118770-66120449	IMR90	lung:	n/a	n/a
9	CHD1	chr7:66118749-66121526	IMR90	lung:	n/a	n/a
10	POLR2A	chr7:66118284-66120509	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:66118192-66118823	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:66118080-66120654	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr7:66117691-66120520	HepG2	liver:	n/a	n/a
14	FOXM1	chr7:66118738-66119947	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:66118435-66118807	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:66118717..66119559-chr8:27168671..27169259,2	Hela-S3	cervix:
2	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
3	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
4	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
5	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
6	chr7:65540244..65541852-chr7:66118000..66119624,2	K562	blood:
7	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
8	chr7:66117771..66119349-chr7:66203886..66206364,2	MCF-7	breast:
9	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
10	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
11	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
12	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226824	TF binding region
ENSG00000104228	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000120899	Chromatin interaction
ENSG00000126522	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv3441217	chr7:66118067-66120865	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66105000-66119000	Weak transcription	Gastric	stomach
2	chr7:66105200-66118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:66110000-66118800	Weak transcription	Ovary	ovary
4	chr7:66112400-66118800	Weak transcription	Aorta	Aorta
5	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:66118200-66118800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr7:66118200-66118800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:66118200-66119000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:66118200-66119000	Active TSS	Brain Germinal Matrix	brain
10	chr7:66118200-66119000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:66118200-66119200	Flanking Active TSS	Dnd41	blood
12	chr7:66118200-66120800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr7:66118200-66120800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:66118200-66120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:66118200-66120800	Active TSS	Fetal Intestine Large	intestine
16	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
22	chr7:66118400-66118800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:66118400-66118800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:66118400-66118800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:66118400-66118800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr7:66118400-66118800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:66118400-66118800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr7:66118400-66118800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:66118400-66118800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:66118400-66118800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr7:66118400-66118800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:66118400-66118800	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr7:66118400-66118800	Enhancers	Fetal Brain Male	brain
34	chr7:66118400-66118800	Enhancers	Fetal Heart	heart
35	chr7:66118400-66118800	Flanking Active TSS	Pancreas	Pancrea
36	chr7:66118400-66118800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:66118400-66118800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr7:66118400-66118800	Flanking Active TSS	Thymus	Thymus
39	chr7:66118400-66119000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr7:66118400-66119000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:66118400-66119000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr7:66118400-66119000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr7:66118400-66119000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:66118400-66119000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr7:66118400-66119000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr7:66118400-66119200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:66118400-66119200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:66118400-66119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:66118400-66120400	Active TSS	Small Intestine	intestine
50	chr7:66118400-66120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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