Variant report

Variant	rs72947357
Chromosome Location	chr2:97072407-97072408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97072346..97073333-chr2:97173463..97174006,3	MCF-7	breast:
2	chr2:97056381..97059929-chr2:97071629..97074358,3	K562	blood:
3	chr2:97070916..97073359-chr2:97177304..97179908,2	MCF-7	breast:
4	chr2:97071293..97074013-chr2:97077222..97080195,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163121	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57966158	0.86[AFR][1000 genomes]
rs58224517	1.00[AFR][1000 genomes]
rs6721923	0.86[AFR][1000 genomes]
rs72937668	0.86[AFR][1000 genomes]
rs72937669	0.86[AFR][1000 genomes]
rs72937670	0.86[AFR][1000 genomes]
rs72937680	0.86[AFR][1000 genomes]
rs72939640	1.00[AFR][1000 genomes]
rs7609551	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3416952	chr2:97043127-97076830	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97063000-97073200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:97065600-97073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:97065800-97073200	Weak transcription	Gastric	stomach
4	chr2:97065800-97073400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:97066200-97073000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:97069400-97074800	Enhancers	Fetal Thymus	thymus
7	chr2:97069400-97075000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:97070200-97073000	Enhancers	Thymus	Thymus
9	chr2:97070400-97072800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:97070400-97072800	Enhancers	Brain Hippocampus Middle	brain
11	chr2:97070400-97073000	Enhancers	Brain Substantia Nigra	brain
12	chr2:97070400-97076000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:97070600-97073000	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:97070600-97073000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:97070800-97072600	Weak transcription	Spleen	Spleen
16	chr2:97070800-97072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:97070800-97073000	Weak transcription	Stomach Mucosa	stomach
18	chr2:97071000-97072800	Weak transcription	Pancreas	Pancrea
19	chr2:97071000-97073000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:97071000-97073000	Weak transcription	Placenta	Placenta
21	chr2:97071000-97073000	Weak transcription	Lung	lung
22	chr2:97071000-97073200	Weak transcription	Psoas Muscle	Psoas
23	chr2:97071200-97072600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:97071200-97072600	Enhancers	Primary T cells from cord blood	blood
25	chr2:97071200-97072600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:97071200-97072800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:97071400-97072600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:97071400-97072800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:97071400-97073000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:97071400-97074000	Weak transcription	Fetal Kidney	kidney
31	chr2:97071600-97072800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:97071600-97073000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:97071800-97072600	Weak transcription	Fetal Brain Male	brain
34	chr2:97071800-97072800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:97071800-97072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:97071800-97073000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:97071800-97073200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:97071800-97073600	Enhancers	Brain Germinal Matrix	brain
39	chr2:97071800-97075800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:97072000-97072800	Weak transcription	Brain Angular Gyrus	brain
41	chr2:97072000-97073400	Weak transcription	Colonic Mucosa	Colon
42	chr2:97072200-97072800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:97072200-97072800	Enhancers	Dnd41	blood
44	chr2:97072200-97074800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:97072200-97075600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:97072400-97072600	Enhancers	Fetal Brain Female	brain
47	chr2:97072400-97072800	Enhancers	Brain Anterior Caudate	brain
48	chr2:97072400-97073000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:97072400-97074400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:97072400-97074400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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