Variant report

Variant	rs57666657
Chromosome Location	chr2:97513523-97513524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:97513376-97513645	NB4	blood:	n/a	n/a
2	POLR2A	chr2:97513357-97513526	K562	blood:	n/a	n/a
3	MAX	chr2:97513443-97513596	K562	blood:	n/a	n/a
4	E2F6	chr2:97513424-97513599	K562	blood:	n/a	n/a
5	MAX	chr2:97513388-97513677	K562	blood:	n/a	n/a
6	POLR2A	chr2:97513310-97514978	HepG2	liver:	n/a	n/a
7	MYC	chr2:97513522-97513523	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97512699..97516587-chr2:97618220..97621285,3	MCF-7	breast:
2	chr2:97512012..97513651-chr2:97522072..97524500,2	MCF-7	breast:
3	chr2:97511851..97513739-chr2:97515998..97518405,2	MCF-7	breast:
4	chr2:97503867..97506050-chr2:97512347..97514134,2	MCF-7	breast:
5	chr2:97508816..97511232-chr2:97512745..97516347,3	K562	blood:

No data

Variant related genes	Relation type
ANKRD23	TF binding region
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12621558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61173747	1.00[AMR][1000 genomes]
rs61661673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
8	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
9	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
10	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
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97484600-97518400	Weak transcription	HUVEC	blood vessel
2	chr2:97499200-97513600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:97499200-97522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:97499600-97515600	Weak transcription	HSMMtube	muscle
5	chr2:97499600-97515800	Weak transcription	Fetal Kidney	kidney
6	chr2:97499600-97522800	Weak transcription	HSMM	muscle
7	chr2:97501000-97520600	Weak transcription	Fetal Brain Male	brain
8	chr2:97501200-97515800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:97501200-97520600	Weak transcription	Hela-S3	cervix
10	chr2:97503200-97514400	Strong transcription	Fetal Brain Female	brain
11	chr2:97503600-97522600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:97505000-97520400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:97505600-97515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:97505600-97521800	Strong transcription	Fetal Stomach	stomach
15	chr2:97505600-97522400	Weak transcription	NH-A	brain
16	chr2:97505800-97513600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:97505800-97514000	Weak transcription	Fetal Lung	lung
18	chr2:97505800-97516400	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:97505800-97518600	Weak transcription	NHLF	lung
20	chr2:97505800-97519200	Weak transcription	Esophagus	oesophagus
21	chr2:97505800-97520200	Strong transcription	Fetal Intestine Small	intestine
22	chr2:97505800-97520200	Weak transcription	HMEC	breast
23	chr2:97505800-97522400	Weak transcription	Stomach Mucosa	stomach
24	chr2:97506000-97513600	Weak transcription	Fetal Heart	heart
25	chr2:97506000-97515600	Weak transcription	GM12878-XiMat	blood
26	chr2:97506200-97516400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:97506200-97520400	Strong transcription	Thymus	Thymus
28	chr2:97506800-97513800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:97508200-97513800	Strong transcription	Brain Angular Gyrus	brain
30	chr2:97508400-97517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:97508800-97520000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:97509000-97513800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:97509800-97520600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:97510000-97521000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:97510200-97513800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:97510200-97519600	Strong transcription	Ovary	ovary
37	chr2:97510200-97521000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:97510600-97516000	Weak transcription	Left Ventricle	heart
39	chr2:97510600-97522600	Weak transcription	Right Atrium	heart
40	chr2:97510800-97516800	Weak transcription	Psoas Muscle	Psoas
41	chr2:97510800-97519200	Weak transcription	Right Ventricle	heart
42	chr2:97511200-97516600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:97511200-97520400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:97511600-97520400	Strong transcription	Fetal Intestine Large	intestine
45	chr2:97511800-97514800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:97511800-97514800	Strong transcription	Spleen	Spleen
47	chr2:97511800-97519600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:97511800-97519600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:97511800-97520200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr2:97511800-97520200	Strong transcription	Brain Inferior Temporal Lobe	brain

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