Variant report

Variant	rs9678135
Chromosome Location	chr2:98313917-98313918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98306671..98309261-chr2:98312573..98314213,2	K562	blood:
2	chr2:98206157..98206692-chr2:98313260..98313920,2	K562	blood:
3	chr2:98277235..98279650-chr2:98312622..98314344,2	K562	blood:
4	chr2:98313545..98315394-chr2:98316624..98319251,2	MCF-7	breast:
5	chr2:98206697..98208046-chr2:98313463..98314373,16	MCF-7	breast:
6	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
7	chr2:98260883..98263818-chr2:98313371..98315126,2	MCF-7	breast:
8	chr2:98207335..98207918-chr2:98313479..98314662,4	MCF-7	breast:
9	chr2:98206925..98207973-chr2:98313358..98314529,26	K562	blood:
10	chr2:98279668..98282370-chr2:98312331..98314137,2	K562	blood:
11	chr2:98243278..98243852-chr2:98313428..98314134,2	MCF-7	breast:
12	chr2:98307215..98309904-chr2:98310640..98314213,3	K562	blood:
13	chr2:98312481..98316233-chr2:98322802..98326765,3	K562	blood:
14	chr2:98278086..98281780-chr2:98311810..98315713,5	MCF-7	breast:
15	chr2:96729021..96729821-chr2:98313504..98314366,3	MCF-7	breast:
16	chr2:98280560..98281625-chr2:98313452..98314455,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115073	Chromatin interaction
ENSG00000201806	Chromatin interaction
ENSG00000196912	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000135940	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10460480	1.00[AMR][1000 genomes]
rs17022096	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[AMR][1000 genomes]
rs17022495	1.00[AMR][1000 genomes]
rs17028435	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028568	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028640	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028771	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs17028924	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17029878	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17031009	1.00[AMR][1000 genomes]
rs2167008	1.00[AMR][1000 genomes]
rs55637939	1.00[AMR][1000 genomes]
rs55757705	0.92[AFR][1000 genomes]
rs55766309	0.85[AFR][1000 genomes]
rs56045386	1.00[AMR][1000 genomes]
rs56381875	1.00[AMR][1000 genomes]
rs56717024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894046	1.00[AMR][1000 genomes]
rs57002448	1.00[AMR][1000 genomes]
rs57183691	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57875000	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58059561	1.00[AMR][1000 genomes]
rs58383658	0.84[AFR][1000 genomes]
rs58753916	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59134572	1.00[AMR][1000 genomes]
rs59340312	1.00[AMR][1000 genomes]
rs60599690	1.00[AMR][1000 genomes]
rs60713338	1.00[AMR][1000 genomes]
rs61016336	1.00[AMR][1000 genomes]
rs72951140	1.00[AMR][1000 genomes]
rs73959761	1.00[AMR][1000 genomes]
rs73959772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98292200-98317800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:98306000-98322400	Weak transcription	Fetal Stomach	stomach
4	chr2:98308200-98316400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:98308400-98317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:98309400-98317800	Weak transcription	HSMM	muscle
7	chr2:98312800-98324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:98313200-98314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:98313400-98314000	Active TSS	Brain Anterior Caudate	brain
10	chr2:98313400-98314000	Active TSS	Osteobl	bone
11	chr2:98313600-98314000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:98313600-98314000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:98313600-98314000	Flanking Active TSS	Dnd41	blood
14	chr2:98313800-98314000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:98313800-98314000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:98313800-98314000	Active TSS	Brain Cingulate Gyrus	brain
17	chr2:98313800-98314000	Active TSS	Brain Hippocampus Middle	brain
18	chr2:98313800-98315000	Weak transcription	Hela-S3	cervix
19	chr2:98313800-98316400	Weak transcription	Fetal Thymus	thymus
20	chr2:98313800-98316400	Weak transcription	HepG2	liver
21	chr2:98313800-98316400	Weak transcription	K562	blood
22	chr2:98313800-98316600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:98313800-98316600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:98313800-98317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:98313800-98318000	Weak transcription	NHDF-Ad	bronchial
26	chr2:98313800-98318200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:98313800-98318400	Weak transcription	GM12878-XiMat	blood

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