Variant report

Variant	rs537389025
Chromosome Location	chr7:100318009-100318010
allele	C/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	RAD21	chr7:100317509-100318028	A549	lung:	n/a	n/a
2	SMC3	chr7:100317168-100318210	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr7:100317486-100318022	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:100317315-100318334	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:100317984-100318266	HepG2	liver:	n/a	n/a
6	RAD21	chr7:100317481-100318032	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:100317095-100318171	SK-N-SH	brain:	n/a	chr7:100318063-100318072
8	RAD21	chr7:100317500-100318035	MCF-7	breast:	n/a	n/a
9	TAF1	chr7:100317991-100319220	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:100317354-100319218	HepG2	liver:	n/a	n/a
11	CTCF	chr7:100317960-100318110	NHEK	skin:	n/a	chr7:100318063-100318072
12	CTCF	chr7:100317416-100318180	A549	lung:	n/a	chr7:100318063-100318072
13	CTCF	chr7:100317920-100318070	HepG2	liver:	n/a	n/a
14	NR2F2	chr7:100317090-100319550	HepG2	liver:	n/a	n/a
15	MAX	chr7:100317046-100319536	HepG2	liver:	n/a	chr7:100318766-100318773 chr7:100318351-100318361

No.	Distal block	Cell Line	Cell type
1	chr7:100315279..100318194-chr7:100320126..100322658,3	K562	blood:
2	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
3	chr7:100302553..100308135-chr7:100314195..100322207,16	MCF-7	breast:
4	chr7:100302051..100306591-chr7:100312993..100321692,11	MCF-7	breast:
5	chr7:100314177..100318194-chr7:100318771..100321626,3	K562	blood:
6	chr7:100315257..100318069-chr7:100320272..100323098,2	MCF-7	breast:
7	chr7:100317313..100318403-chr7:100449405..100450273,4	MCF-7	breast:

Variant related genes	Relation type
EPO	TF binding region
ENSG00000236305	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000196411	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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv3410635	chr7:100317416-100319614	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100305200-100318400	Weak transcription	Gastric	stomach
2	chr7:100316600-100318400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:100316600-100318400	Enhancers	Liver	Liver
4	chr7:100316800-100318200	Bivalent Enhancer	Fetal Intestine Large	intestine
5	chr7:100317200-100319400	Bivalent Enhancer	Fetal Intestine Small	intestine
6	chr7:100317400-100318200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
7	chr7:100317400-100318800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:100317600-100319400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr7:100317800-100318200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:100317800-100318200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:100317800-100318200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:100317800-100318200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:100317800-100318200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:100317800-100318200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:100317800-100318200	Bivalent Enhancer	Fetal Lung	lung
16	chr7:100317800-100318200	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr7:100317800-100318600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:100317800-100318600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:100317800-100318600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:100317800-100318600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:100317800-100318600	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr7:100317800-100318800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:100317800-100318800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:100317800-100318800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:100317800-100318800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:100317800-100318800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:100317800-100318800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:100317800-100318800	Bivalent Enhancer	Fetal Heart	heart
29	chr7:100317800-100319000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr7:100317800-100319000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr7:100317800-100319200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:100317800-100319200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:100317800-100319200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:100317800-100319400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr7:100317800-100321000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
40	chr7:100318000-100318200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:100318000-100318200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr7:100318000-100318200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
44	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:100318000-100318200	Bivalent Enhancer	Brain Germinal Matrix	brain
47	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr7:100318000-100318200	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr7:100318000-100318200	Flanking Active TSS	Right Atrium	heart
50	chr7:100318000-100318200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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