Variant report

Variant	rs113478338
Chromosome Location	chr7:66207434-66207435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:66207359-66207690	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:66207291-66207735	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:66207259-66207729	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:66207222-66207685	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:66207400-66207476	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:66207248-66207610	U87	brain:	n/a	n/a
7	POLR2A	chr7:66207260-66207853	IMR90	lung:	n/a	n/a
8	RAD21	chr7:66207383-66207597	IMR90	lung:	n/a	n/a
9	FOS	chr7:66207317-66207580	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:66207434-66207452	ProgFib	skin:	n/a	n/a
11	FOSL2	chr7:66207238-66207773	HepG2	liver:	n/a	n/a
12	MXI1	chr7:66207290-66207757	IMR90	lung:	n/a	n/a
13	CHD1	chr7:66207241-66207699	IMR90	lung:	n/a	n/a
14	ZNF263	chr7:66207332-66207838	HEK293-T-REx	kidney:	n/a	n/a
15	POLR2A	chr7:66207224-66207527	GM12878	blood:	n/a	n/a
16	MYC	chr7:66207286-66207594	MCF10A-Er-Src	breast:	n/a	n/a
17	HEY1	chr7:66207257-66207838	K562	blood:	n/a	n/a
18	POLR2A	chr7:66207329-66207517	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr7:66207201-66207670	Hela-S3	cervix:	n/a	n/a
20	FOS	chr7:66207315-66207686	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:66207282-66207518	MCF10A-Er-Src	breast:	n/a	n/a
22	MAZ	chr7:66207372-66207809	IMR90	lung:	n/a	n/a
23	CTCF	chr7:66207338-66207440	GM10248	blood:	n/a	n/a
24	FOS	chr7:66207387-66207594	MCF10A-Er-Src	breast:	n/a	n/a
25	POU2F2	chr7:66207254-66207576	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:66207238-66207910	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:66207366-66207481	Gliobla	brain:	n/a	n/a
28	MYC	chr7:66207286-66207597	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66204928..66209821-chr7:66213597..66216412,7	MCF-7	breast:
2	chr7:66205946..66208187-chr7:66309676..66311325,2	MCF-7	breast:
3	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:
4	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
5	chr7:66203955..66208659-chr7:66209716..66215353,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272831	TF binding region
ENSG00000154710	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv970871	chr7:66206610-66210233	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66204200-66208000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:66204400-66207800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:66204600-66207600	Active TSS	NHDF-Ad	bronchial
4	chr7:66204600-66207800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:66204800-66207600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:66204800-66207600	Active TSS	HSMMtube	muscle
7	chr7:66204800-66207600	Active TSS	NHLF	lung
8	chr7:66204800-66208000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:66205000-66207600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr7:66205000-66207600	Active TSS	HSMM	muscle
11	chr7:66205200-66207800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:66205600-66207800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:66206200-66207600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:66206400-66207600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:66206400-66208000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:66206400-66216600	Weak transcription	Spleen	Spleen
17	chr7:66206600-66207600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:66206600-66207600	Active TSS	HepG2	liver
19	chr7:66206600-66208000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr7:66206800-66207600	Enhancers	Brain Substantia Nigra	brain
21	chr7:66206800-66207600	Enhancers	Fetal Brain Male	brain
22	chr7:66206800-66207600	Enhancers	Gastric	stomach
23	chr7:66206800-66207600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:66206800-66207600	Enhancers	HUVEC	blood vessel
25	chr7:66206800-66208000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:66206800-66208000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:66206800-66208000	Enhancers	Thymus	Thymus
28	chr7:66206800-66208200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:66206800-66210600	Weak transcription	Fetal Heart	heart
30	chr7:66206800-66212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:66206800-66213600	Weak transcription	Small Intestine	intestine
32	chr7:66206800-66216400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
35	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
36	chr7:66207000-66207600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:66207000-66207600	Enhancers	Liver	Liver
38	chr7:66207000-66207600	Enhancers	Brain Anterior Caudate	brain
39	chr7:66207000-66207600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:66207000-66207600	Weak transcription	Fetal Intestine Small	intestine
41	chr7:66207000-66207600	Active TSS	Fetal Lung	lung
42	chr7:66207000-66207600	Weak transcription	Ovary	ovary
43	chr7:66207000-66207600	Enhancers	K562	blood
44	chr7:66207000-66207800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr7:66207000-66207800	Enhancers	Fetal Muscle Leg	muscle
46	chr7:66207000-66207800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:66207000-66207800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:66207000-66208000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:66207000-66208000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:66207000-66208000	Enhancers	Brain Germinal Matrix	brain

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