Variant report

Variant	rs13423092
Chromosome Location	chr2:97557019-97557020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97556750..97558871-chr2:97588696..97591655,2	MCF-7	breast:
2	chr2:97556985..97558977-chr2:97588786..97591585,2	K562	blood:
3	chr2:97556203..97557868-chr2:97609232..97610931,2	MCF-7	breast:
4	chr2:97554903..97557282-chr2:97563328..97565935,2	K562	blood:

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10182668	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10182965	0.90[ASW][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11677797	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11694296	0.90[ASW][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12613171	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13383845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13410790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13421275	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13425281	0.90[ASW][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2314650	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28687044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4907203	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4907204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4907205	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4907206	1.00[ASW][hapmap];0.92[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4907256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4907257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4907258	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4907259	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4907260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61382911	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97542800-97557400	Enhancers	Placenta	Placenta
2	chr2:97552600-97560800	Weak transcription	Hela-S3	cervix
3	chr2:97554200-97560800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:97554400-97557200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:97554400-97557200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:97554400-97561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:97554400-97563400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:97554600-97563400	Weak transcription	Fetal Heart	heart
9	chr2:97554800-97557400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:97554800-97559200	Weak transcription	NHEK	skin
11	chr2:97554800-97561200	Weak transcription	Fetal Brain Female	brain
12	chr2:97555000-97557200	Weak transcription	Fetal Intestine Small	intestine
13	chr2:97555000-97557200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:97555000-97557400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:97555000-97557400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:97555000-97560800	Weak transcription	Fetal Brain Male	brain
17	chr2:97555000-97561200	Weak transcription	Pancreas	Pancrea
18	chr2:97555600-97559800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:97555800-97558400	Enhancers	Ovary	ovary
20	chr2:97555800-97559800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:97556000-97557200	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:97556000-97557600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:97556000-97557800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:97556000-97558000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:97556000-97558000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:97556000-97558200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:97556000-97558800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:97556000-97559000	Enhancers	Colon Smooth Muscle	Colon
29	chr2:97556000-97559400	Enhancers	Lung	lung
30	chr2:97556000-97560000	Transcr. at gene 5' and 3'	K562	blood
31	chr2:97556000-97560200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:97556000-97560200	Enhancers	Brain Hippocampus Middle	brain
33	chr2:97556000-97562200	Enhancers	Brain Anterior Caudate	brain
34	chr2:97556200-97557400	Enhancers	Right Atrium	heart
35	chr2:97556200-97557800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:97556200-97557800	Bivalent Enhancer	HepG2	liver
37	chr2:97556200-97558000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:97556200-97558000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:97556200-97558000	Enhancers	Left Ventricle	heart
40	chr2:97556200-97558000	Enhancers	HSMMtube	muscle
41	chr2:97556200-97558200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:97556200-97558200	Enhancers	HSMM	muscle
43	chr2:97556200-97558400	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:97556200-97558600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:97556200-97558600	Enhancers	Fetal Lung	lung
46	chr2:97556200-97558600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr2:97556200-97558800	Enhancers	Fetal Stomach	stomach
48	chr2:97556200-97559200	Enhancers	Adipose Nuclei	Adipose
49	chr2:97556200-97559600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:97556200-97559800	Enhancers	Primary T helper cells PMA-I stimulated	--

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