Variant report

Variant	rs530595450
Chromosome Location	chr7:97909949-97909950
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:97909729-97910198	H1-hESC	embryonic stem cell:	n/a	chr7:97909864-97909875 chr7:97910160-97910173
2	TCF12	chr7:97909927-97910880	A549	lung:	n/a	chr7:97910312-97910319 chr7:97910241-97910248
3	MAX	chr7:97909937-97911150	MCF-7	breast:	n/a	chr7:97910754-97910764 chr7:97910614-97910624 chr7:97910942-97910952 chr7:97910599-97910609
4	TCF12	chr7:97909929-97910815	ECC-1	luminal epithelium:	n/a	chr7:97910312-97910319 chr7:97910241-97910248
5	CEBPB	chr7:97909733-97910227	HepG2	liver:	n/a	chr7:97909864-97909875 chr7:97910160-97910173
6	CEBPB	chr7:97909738-97910630	Hela-S3	cervix:	n/a	chr7:97909864-97909875 chr7:97910160-97910173
7	REST	chr7:97909862-97910911	H1-neurons	neurons:	n/a	chr7:97910243-97910256

No.	Distal block	Cell Line	Cell type
1	chr7:97880609..97882891-chr7:97909884..97913133,3	MCF-7	breast:
2	chr7:97900433..97904239-chr7:97908509..97910838,3	K562	blood:
3	chr7:97880657..97883457-chr7:97908974..97910800,2	MCF-7	breast:
4	chr7:97907436..97910241-chr7:97949953..97951454,2	MCF-7	breast:

Variant related genes	Relation type
BRI3	TF binding region
ENSG00000164713	Chromatin interaction
ENSG00000205356	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	esv1802449	chr7:97900191-97929668	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	esv3344573	chr7:97909166-97912264	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3441380	chr7:97909641-97912189	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97886800-97910000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:97887200-97910000	Weak transcription	Right Ventricle	heart
3	chr7:97887400-97910000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:97895600-97910000	Weak transcription	HSMM	muscle
5	chr7:97895800-97910000	Weak transcription	Osteobl	bone
6	chr7:97906000-97910000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:97906000-97910000	Weak transcription	NHDF-Ad	bronchial
8	chr7:97906200-97910000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:97906200-97910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:97906200-97910000	Weak transcription	Fetal Lung	lung
11	chr7:97906200-97910000	Weak transcription	Ovary	ovary
12	chr7:97906400-97910000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:97907800-97910000	Enhancers	Pancreas	Pancrea
14	chr7:97907800-97910200	Enhancers	Stomach Mucosa	stomach
15	chr7:97908200-97910000	Enhancers	Liver	Liver
16	chr7:97908400-97910000	Weak transcription	A549	lung
17	chr7:97908400-97910200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:97908600-97910000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:97908600-97910000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:97908600-97910000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:97908600-97910000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:97908600-97910000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:97908600-97910000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:97908600-97910000	Weak transcription	HSMMtube	muscle
25	chr7:97908800-97910000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:97908800-97910000	Weak transcription	K562	blood
27	chr7:97908800-97910200	Weak transcription	Lung	lung
28	chr7:97909200-97910000	Enhancers	Colonic Mucosa	Colon
29	chr7:97909400-97910200	Weak transcription	Gastric	stomach
30	chr7:97909600-97910000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:97909600-97910000	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:97909600-97910000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr7:97909600-97910000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:97909600-97910000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:97909600-97910400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr7:97909800-97910000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:97909800-97910000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:97909800-97910000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:97909800-97910000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:97909800-97910000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:97909800-97910000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:97909800-97910000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:97909800-97910000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:97909800-97910000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:97909800-97910000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:97909800-97910000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:97909800-97910000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:97909800-97910000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:97909800-97910000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:97909800-97910000	Enhancers	Cortex derived primary cultured neurospheres	brain

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