Variant report

Variant	rs7583821
Chromosome Location	chr2:97569664-97569665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97554940..97556485-chr2:97567959..97570783,2	K562	blood:
2	chr2:97568240..97570833-chr2:97573049..97574563,2	K562	blood:
3	chr2:97562141..97565511-chr2:97568458..97571207,4	K562	blood:
4	chr2:97548880..97549708-chr2:97568977..97569712,2	MCF-7	breast:
5	chr2:97568349..97571105-chr2:97578253..97580296,2	K562	blood:
6	chr2:97562141..97564562-chr2:97568458..97570008,2	K562	blood:

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11888876	1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs11894826	1.00[EUR][1000 genomes]
rs11902657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12464868	0.86[AFR][1000 genomes]
rs13430237	0.85[AFR][1000 genomes]
rs35069910	1.00[EUR][1000 genomes]
rs3806559	1.00[EUR][1000 genomes]
rs4243786	0.86[AFR][1000 genomes]
rs4907254	0.83[AFR][1000 genomes]
rs57537489	1.00[EUR][1000 genomes]
rs58225390	1.00[EUR][1000 genomes]
rs58400029	1.00[EUR][1000 genomes]
rs6576982	1.00[EUR][1000 genomes]
rs6729813	1.00[EUR][1000 genomes]
rs72941231	1.00[EUR][1000 genomes]
rs72942920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72942941	1.00[EUR][1000 genomes]
rs72942947	1.00[EUR][1000 genomes]
rs73959007	1.00[EUR][1000 genomes]
rs73959410	1.00[EUR][1000 genomes]
rs73959411	1.00[EUR][1000 genomes]
rs73961156	1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][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	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97558200-97572200	Weak transcription	Right Atrium	heart
2	chr2:97561600-97572200	Weak transcription	Psoas Muscle	Psoas
3	chr2:97561800-97572000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97562000-97572200	Weak transcription	Gastric	stomach
5	chr2:97562400-97572000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:97562400-97572000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:97563400-97575200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:97563800-97572200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:97563800-97573200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:97564200-97572200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:97565000-97572000	Weak transcription	Right Ventricle	heart
12	chr2:97565000-97572000	Weak transcription	HSMMtube	muscle
13	chr2:97565000-97575000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:97565200-97570000	Weak transcription	Primary T cells from cord blood	blood
15	chr2:97565200-97572000	Weak transcription	Fetal Lung	lung
16	chr2:97565200-97572200	Weak transcription	Ovary	ovary
17	chr2:97565400-97572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:97566600-97572200	Weak transcription	Esophagus	oesophagus
19	chr2:97568200-97570600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:97568400-97570000	Enhancers	Placenta	Placenta
21	chr2:97568400-97571200	Enhancers	Colon Smooth Muscle	Colon
22	chr2:97569000-97569800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:97569000-97569800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:97569000-97570000	Enhancers	Fetal Stomach	stomach
25	chr2:97569000-97570600	Enhancers	K562	blood
26	chr2:97569200-97570000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:97569200-97570000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:97569200-97570000	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:97569200-97570000	Enhancers	Brain Hippocampus Middle	brain
30	chr2:97569200-97570000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:97569200-97570000	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:97569200-97570000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr2:97569200-97570000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:97569200-97570200	Enhancers	Brain Substantia Nigra	brain
39	chr2:97569200-97570200	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:97569200-97570200	Enhancers	Thymus	Thymus
41	chr2:97569400-97569800	Enhancers	Brain Anterior Caudate	brain
42	chr2:97569400-97569800	Enhancers	Fetal Thymus	thymus
43	chr2:97569400-97570000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:97569400-97570000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:97569400-97570000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:97569400-97570000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:97569400-97570000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr2:97569400-97570200	Enhancers	HSMM	muscle
49	chr2:97569600-97569800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:97569600-97569800	Enhancers	Cortex derived primary cultured neurospheres	brain

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