Variant report

Variant	rs565213797
Chromosome Location	chr7:101461837-101461838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

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	HNF4A	chr7:101461837-101462109	HepG2	liver:	n/a	chr7:101462005-101462018 chr7:101462006-101462019 chr7:101462005-101462018 chr7:101462005-101462020 chr7:101462005-101462019 chr7:101462005-101462018 chr7:101462006-101462018 chr7:101462003-101462021 chr7:101462005-101462020 chr7:101462006-101462018
6	CTCF	chr7:101459816-101461885	SK-N-SH	brain:	n/a	chr7:101459943-101459956
7	IRF1	chr7:101461011-101462158	K562	blood:	n/a	chr7:101461870-101461884
8	GTF2F1	chr7:101461836-101461928	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr7:101458070-101461933	IMR90	lung:	n/a	n/a
10	CHD1	chr7:101459801-101462372	IMR90	lung:	n/a	chr7:101460415-101460425

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101461823-101461873	ProgFib	skin:	n/a
2	chr7:101461823-101461873	SKMC	muscle:	n/a
3	chr7:101461823-101461873	HCPEpiC	choroid plexus:	n/a
4	chr7:101461823-101461873	T-47D	breast:	n/a
5	chr7:101461823-101461873	PrEC	prostate:	n/a
6	chr7:101461823-101461873	ECC-1	luminal epithelium:	n/a
7	chr7:101461823-101461873	HNPCEpiC	eye:	n/a
8	chr7:101461823-101461873	ovcar-3	ovarian:	n/a
9	chr7:101461823-101461873	AG09319	gingival:	n/a
10	chr7:101461823-101461873	HRCEpiC	kidney:	n/a
11	chr7:101461823-101461873	PANC-1	pancreas:	n/a
12	chr7:101461823-101461873	BJ	skin:	n/a
13	chr7:101461823-101461873	MCF10A-Er-Src	breast:	n/a
14	chr7:101461823-101461873	SK-N-SH_RA	brain:	n/a
15	chr7:101461823-101461873	HL-60	blood:	n/a
16	chr7:101461823-101461873	MCF-7	breast:	n/a
17	chr7:101461823-101461873	HUVEC	blood vessel:	n/a
18	chr7:101461823-101461873	SK-N-SH	brain:	n/a
19	chr7:101461823-101461873	HRPEpiC	eye:	n/a
20	chr7:101461823-101461873	NT2-D1	testis:	n/a
21	chr7:101461823-101461873	HAEpiC	amniotic membrane:	n/a
22	chr7:101461823-101461873	Hepatocyte	liver:	n/a
23	chr7:101461823-101461873	H1-hESC	embryonic stem cell:	embryo
24	chr7:101461823-101461873	HCF	heart:	n/a
25	chr7:101461823-101461873	NHBE	bronchial:	n/a
26	chr7:101461823-101461873	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:101461823-101461873	AG10803	skin:	n/a
28	chr7:101461823-101461873	HepG2	liver:	n/a
29	chr7:101461823-101461873	NHDF-neo	bronchial:	n/a
30	chr7:101461823-101461873	K562	blood:	n/a
31	chr7:101461823-101461873	GM12892	blood:	n/a
32	chr7:101461823-101461873	GM12878	blood:	n/a
33	chr7:101461823-101461873	Jurkat	blood:	n/a
34	chr7:101461823-101461873	SK-N-MC	brain:	n/a
35	chr7:101461823-101461873	A549	lung:	n/a
36	chr7:101461823-101461873	Hela-S3	cervix:	n/a
37	chr7:101461823-101461873	AoSMC	blood vessel:	n/a
38	chr7:101461823-101461873	AG04450	lung:	fetal
39	chr7:101461823-101461873	AG09309	skin:	n/a
40	chr7:101461823-101461873	GM06990	blood:	n/a
41	chr7:101461823-101461873	NH-A	brain:	n/a
42	chr7:101461823-101461873	CMK	blood:	n/a
43	chr7:101461823-101461873	U87	brain:	n/a
44	chr7:101461823-101461873	Caco-2	colon:	n/a
45	chr7:101461823-101461873	IMR90	lung:	fetal
46	chr7:101461823-101461873	RPTEC	kidney:	n/a
47	chr7:101461823-101461873	AG04449	skin:	fetal
48	chr7:101461823-101461873	HRE	kidney:	n/a
49	chr7:101461823-101461873	GM12891	blood:	n/a
50	chr7:101461823-101461873	HCM	heart:	n/a

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

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

No data

Variant related genes	Relation type
CUX1	TF binding region
CUX1	CpG island
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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101457000-101462000	Active TSS	Fetal Intestine Large	intestine
2	chr7:101457200-101462000	Active TSS	NHDF-Ad	bronchial
3	chr7:101460200-101462200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr7:101460400-101462000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:101460600-101462200	Flanking Active TSS	Dnd41	blood
6	chr7:101460800-101462200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:101460800-101462200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:101460800-101462200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr7:101460800-101462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:101461000-101462000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:101461000-101462000	Active TSS	Fetal Kidney	kidney
12	chr7:101461000-101462000	Flanking Active TSS	Fetal Stomach	stomach
13	chr7:101461000-101462000	Flanking Active TSS	Thymus	Thymus
14	chr7:101461000-101462400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:101461000-101462400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:101461000-101462400	Enhancers	Fetal Brain Male	brain
17	chr7:101461000-101462600	Flanking Active TSS	K562	blood
18	chr7:101461000-101462800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr7:101461200-101462000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:101461200-101462000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:101461200-101462000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr7:101461200-101462000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:101461200-101462000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr7:101461200-101462000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:101461200-101462000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:101461200-101462000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:101461200-101462000	Enhancers	Brain Hippocampus Middle	brain
28	chr7:101461200-101462000	Weak transcription	Small Intestine	intestine
29	chr7:101461200-101462200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:101461200-101462200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:101461200-101462200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:101461200-101462200	Weak transcription	HMEC	breast
33	chr7:101461200-101462400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:101461200-101462400	Enhancers	Brain Anterior Caudate	brain
35	chr7:101461200-101462400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:101461200-101462400	Flanking Active TSS	Hela-S3	cervix
37	chr7:101461200-101462800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:101461200-101464600	Enhancers	Fetal Heart	heart
39	chr7:101461200-101466400	Weak transcription	Pancreas	Pancrea
40	chr7:101461200-101466800	Weak transcription	Brain Substantia Nigra	brain
41	chr7:101461200-101468600	Weak transcription	Spleen	Spleen
42	chr7:101461200-101469800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:101461200-101471800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:101461200-101475200	Weak transcription	Esophagus	oesophagus
45	chr7:101461200-101475400	Weak transcription	Colonic Mucosa	Colon
46	chr7:101461200-101475400	Weak transcription	Gastric	stomach
47	chr7:101461200-101486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:101461400-101462000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:101461400-101462000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:101461400-101462200	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links