Variant report

Variant	rs6733826
Chromosome Location	chr2:97569305-97569306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97558209..97561709-chr2:97566802..97569625,3	K562	blood:
2	chr2:97554940..97556485-chr2:97567959..97570783,2	K562	blood:
3	chr2:97568240..97570833-chr2:97573049..97574563,2	K562	blood:
4	chr2:97562141..97565511-chr2:97568458..97571207,4	K562	blood:
5	chr2:97548880..97549708-chr2:97568977..97569712,2	MCF-7	breast:
6	chr2:97568349..97571105-chr2:97578253..97580296,2	K562	blood:
7	chr2:97562141..97564562-chr2:97568458..97570008,2	K562	blood:

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1047634	1.00[EUR][1000 genomes]
rs11886360	1.00[EUR][1000 genomes]
rs11892821	1.00[EUR][1000 genomes]
rs2314649	1.00[EUR][1000 genomes]
rs34013660	1.00[EUR][1000 genomes]
rs56129857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57184334	1.00[EUR][1000 genomes]
rs58448521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576985	1.00[EUR][1000 genomes]
rs6576988	1.00[EUR][1000 genomes]
rs6576991	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707008	1.00[EUR][1000 genomes]
rs6733535	1.00[EUR][1000 genomes]
rs6744498	1.00[EUR][1000 genomes]
rs6746421	1.00[EUR][1000 genomes]
rs6748214	1.00[EUR][1000 genomes]
rs6748234	1.00[EUR][1000 genomes]
rs6759613	1.00[EUR][1000 genomes]
rs72945119	1.00[EUR][1000 genomes]
rs72947013	1.00[EUR][1000 genomes]
rs73960684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73960686	1.00[AMR][1000 genomes]
rs7569178	1.00[EUR][1000 genomes]
rs7580104	1.00[EUR][1000 genomes]
rs7587149	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:52 , 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	chr2:97562600-97569600	Weak transcription	Fetal Brain Female	brain
8	chr2:97563400-97575200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:97563800-97572200	Weak transcription	Brain Angular Gyrus	brain
10	chr2:97563800-97573200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:97564200-97572200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:97565000-97572000	Weak transcription	Right Ventricle	heart
13	chr2:97565000-97572000	Weak transcription	HSMMtube	muscle
14	chr2:97565000-97575000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:97565200-97569400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:97565200-97569400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:97565200-97570000	Weak transcription	Primary T cells from cord blood	blood
18	chr2:97565200-97572000	Weak transcription	Fetal Lung	lung
19	chr2:97565200-97572200	Weak transcription	Ovary	ovary
20	chr2:97565400-97569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:97565400-97572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:97565800-97569400	Weak transcription	HSMM	muscle
23	chr2:97566000-97569400	Weak transcription	Fetal Thymus	thymus
24	chr2:97566600-97572200	Weak transcription	Esophagus	oesophagus
25	chr2:97566800-97569600	Weak transcription	Spleen	Spleen
26	chr2:97568200-97569600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:97568200-97570600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:97568400-97570000	Enhancers	Placenta	Placenta
29	chr2:97568400-97571200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:97569000-97569600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:97569000-97569800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:97569000-97569800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:97569000-97570000	Enhancers	Fetal Stomach	stomach
34	chr2:97569000-97570600	Enhancers	K562	blood
35	chr2:97569200-97569600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:97569200-97569600	Enhancers	Colonic Mucosa	Colon
37	chr2:97569200-97569600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:97569200-97570000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:97569200-97570000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:97569200-97570000	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:97569200-97570000	Enhancers	Brain Hippocampus Middle	brain
42	chr2:97569200-97570000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:97569200-97570000	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:97569200-97570000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr2:97569200-97570000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:97569200-97570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:97569200-97570200	Enhancers	Brain Substantia Nigra	brain

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