Variant report

Variant	rs530483200
Chromosome Location	chr7:101207489-101207490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101206668..101209000-chr7:101457248..101459905,2	MCF-7	breast:
2	chr7:101206824..101211807-chr7:101212192..101215584,4	K562	blood:
3	chr7:101199428..101201202-chr7:101204927..101207816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233123	Chromatin interaction
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1796652	chr7:101156017-101219459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv818542	chr7:101202840-101208943	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3325020	chr7:101206682-101209580	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101186200-101207600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:101189200-101207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:101191400-101207600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:101193600-101207600	Weak transcription	Fetal Kidney	kidney
5	chr7:101194400-101208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:101205400-101207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:101206000-101208000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr7:101206000-101208400	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr7:101206200-101207600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr7:101206200-101207800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:101206400-101207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:101206400-101208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr7:101206400-101209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:101206600-101208600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:101206800-101207600	Enhancers	Placenta	Placenta
16	chr7:101206800-101207600	Enhancers	Fetal Thymus	thymus
17	chr7:101206800-101208000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:101206800-101208000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:101206800-101208400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:101206800-101208600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr7:101207000-101207600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:101207000-101208000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:101207000-101208000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr7:101207000-101208200	Enhancers	Spleen	Spleen
25	chr7:101207000-101208400	Enhancers	Lung	lung
26	chr7:101207000-101208400	Enhancers	A549	lung
27	chr7:101207000-101208600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:101207200-101207600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:101207200-101207800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:101207200-101208000	Weak transcription	Esophagus	oesophagus
31	chr7:101207200-101208000	Enhancers	Hela-S3	cervix
32	chr7:101207200-101208400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:101207200-101208400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:101207400-101207600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr7:101207400-101207800	Enhancers	Fetal Heart	heart
36	chr7:101207400-101207800	Enhancers	HUVEC	blood vessel
37	chr7:101207400-101208200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr7:101207400-101208400	Enhancers	Primary hematopoietic stem cells	blood

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