Variant report

Variant	rs534731439
Chromosome Location	chr2:97425922-97425923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:97425868-97427547	A549	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
2	MAX	chr2:97425916-97427312	HCT-116	colon:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
3	POLR2A	chr2:97425902-97427318	MCF10A-Er-Src	breast:	n/a	n/a
4	BCL3	chr2:97425841-97426532	A549	lung:	n/a	chr2:97426481-97426490 chr2:97426435-97426444 chr2:97426480-97426493
5	HCFC1	chr2:97425872-97427233	Hela-S3	cervix:	n/a	n/a
6	CUX1	chr2:97425880-97426043	K562	blood:	n/a	n/a
7	MAZ	chr2:97425665-97427392	IMR90	lung:	n/a	chr2:97426333-97426340 chr2:97426332-97426341
8	MXI1	chr2:97425636-97427615	SK-N-SH	brain:	n/a	n/a
9	GTF2F1	chr2:97425875-97426773	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr2:97425647-97427571	IMR90	lung:	n/a	n/a
11	E2F6	chr2:97425871-97426719	H1-hESC	embryonic stem cell:	n/a	chr2:97426518-97426532 chr2:97426548-97426557
12	POLR2A	chr2:97425648-97427085	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:97425822-97426019	MCF10A-Er-Src	breast:	n/a	n/a
14	BRCA1	chr2:97425874-97425942	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:97425907-97427624	Raji	blood:	n/a	n/a
16	REST	chr2:97425918-97426809	H1-neurons	neurons:	n/a	n/a
17	USF2	chr2:97425764-97426507	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
2	chr14:34930899..34931823-chr2:97425912..97426737,2	Hela-S3	cervix:
3	chr2:97407779..97410358-chr2:97422374..97426417,4	K562	blood:
4	chr2:96990031..96992678-chr2:97425792..97428161,2	K562	blood:
5	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:
6	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
7	chr2:97358845..97361710-chr2:97424992..97426847,2	K562	blood:
8	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
9	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
10	chr2:97425294..97427081-chr2:97533526..97535772,2	K562	blood:
11	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
12	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
13	chr2:97422064..97424734-chr2:97424939..97426592,2	MCF-7	breast:
14	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
15	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
16	chr19:59057645..59060088-chr2:97425289..97427469,2	MCF-7	breast:
17	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
18	chr2:97423625..97426138-chr2:97484337..97486226,2	K562	blood:

No data

Variant related genes	Relation type
CNNM4	TF binding region
ENSG00000130726	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000249715	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000168763	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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv3438902	chr2:97425450-97427998	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
15	esv3445643	chr2:97425775-97427773	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97420600-97426000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:97420600-97426000	Weak transcription	Osteobl	bone
3	chr2:97423200-97426000	Enhancers	Fetal Intestine Small	intestine
4	chr2:97423600-97426000	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:97423600-97426000	Enhancers	Fetal Intestine Large	intestine
6	chr2:97423800-97426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:97424200-97426000	Weak transcription	Liver	Liver
8	chr2:97424600-97426000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:97424600-97426000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:97424600-97426000	Enhancers	Stomach Mucosa	stomach
11	chr2:97424800-97426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:97424800-97426000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:97424800-97426000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:97424800-97426000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:97424800-97426000	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:97424800-97426000	Enhancers	GM12878-XiMat	blood
17	chr2:97424800-97426000	Enhancers	K562	blood
18	chr2:97424800-97426200	Enhancers	Esophagus	oesophagus
19	chr2:97425000-97426000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:97425000-97426000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:97425000-97426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:97425000-97426000	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:97425000-97426000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:97425000-97426000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:97425000-97426000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:97425000-97426000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:97425000-97426000	Enhancers	Colonic Mucosa	Colon
28	chr2:97425000-97426000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:97425000-97426200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr2:97425000-97426400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:97425200-97426000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:97425200-97426000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:97425200-97426200	Enhancers	Placenta	Placenta
34	chr2:97425400-97426000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:97425400-97426000	Enhancers	Primary B cells from cord blood	blood
36	chr2:97425400-97426000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:97425400-97426000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:97425400-97426000	Enhancers	Fetal Thymus	thymus
39	chr2:97425400-97426000	Enhancers	Thymus	Thymus
40	chr2:97425400-97426000	Enhancers	NHEK	skin
41	chr2:97425400-97426200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:97425400-97426200	Enhancers	Pancreas	Pancrea
43	chr2:97425600-97426000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:97425600-97426000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:97425600-97426000	Enhancers	Aorta	Aorta
46	chr2:97425600-97426000	Enhancers	Fetal Kidney	kidney
47	chr2:97425600-97426000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:97425600-97426000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:97425600-97426000	Enhancers	HSMMtube	muscle
50	chr2:97425600-97426200	Enhancers	Primary monocytes fromperipheralblood	blood

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