Variant report

Variant	rs538731995
Chromosome Location	chr7:101461703-101461704
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	SMC3	chr7:101456662-101462457	SK-N-SH	brain:	n/a	chr7:101459988-101459995
2	ARID3A	chr7:101461170-101462030	K562	blood:	n/a	n/a
3	STAT3	chr7:101461151-101461931	MCF10A-Er-Src	breast:	n/a	n/a
4	ARID3A	chr7:101461092-101462192	HepG2	liver:	n/a	n/a
5	CTCF	chr7:101459816-101461885	SK-N-SH	brain:	n/a	chr7:101459943-101459956
6	IRF1	chr7:101461011-101462158	K562	blood:	n/a	chr7:101461870-101461884
7	MAZ	chr7:101458070-101461933	IMR90	lung:	n/a	n/a
8	CHD1	chr7:101459801-101462372	IMR90	lung:	n/a	chr7:101460415-101460425

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:101456865..101462678-chr7:101466062..101470276,9	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000259294	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv824244	chr7:101452564-101464341	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
10	nsv824245	chr7:101455132-101461951	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
11	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv3388804	chr7:101458232-101461980	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
13	esv3338355	chr7:101458232-101462630	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3424172	chr7:101459457-101462005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101457000-101461800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
3	chr7:101457200-101461800	Active TSS	Right Atrium	heart
4	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
5	chr7:101457600-101461800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:101458400-101461800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:101458600-101461800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:101460200-101462200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr7:101460400-101462000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr7:101460600-101462200	Flanking Active TSS	Dnd41	blood
11	chr7:101460800-101462200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr7:101460800-101462200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:101460800-101462200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr7:101460800-101462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:101461000-101461800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:101461000-101461800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:101461000-101461800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr7:101461000-101461800	Flanking Active TSS	Fetal Lung	lung
19	chr7:101461000-101461800	Flanking Active TSS	Osteobl	bone
20	chr7:101461000-101462000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:101461000-101462000	Active TSS	Fetal Kidney	kidney
22	chr7:101461000-101462000	Flanking Active TSS	Fetal Stomach	stomach
23	chr7:101461000-101462000	Flanking Active TSS	Thymus	Thymus
24	chr7:101461000-101462400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:101461000-101462400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:101461000-101462400	Enhancers	Fetal Brain Male	brain
27	chr7:101461000-101462600	Flanking Active TSS	K562	blood
28	chr7:101461000-101462800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr7:101461200-101461800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:101461200-101461800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:101461200-101461800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:101461200-101461800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:101461200-101461800	Weak transcription	Aorta	Aorta
34	chr7:101461200-101461800	Active TSS	Right Ventricle	heart
35	chr7:101461200-101461800	Weak transcription	Stomach Mucosa	stomach
36	chr7:101461200-101462000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:101461200-101462000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:101461200-101462000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr7:101461200-101462000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:101461200-101462000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:101461200-101462000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:101461200-101462000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:101461200-101462000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:101461200-101462000	Enhancers	Brain Hippocampus Middle	brain
45	chr7:101461200-101462000	Weak transcription	Small Intestine	intestine
46	chr7:101461200-101462200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:101461200-101462200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:101461200-101462200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:101461200-101462200	Weak transcription	HMEC	breast
50	chr7:101461200-101462400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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