Variant report

Variant	rs13078996
Chromosome Location	chr3:143197617-143197618
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143193715..143198774-chr3:143199748..143204167,7	K562	blood:
2	chr3:143196850..143198555-chr3:143200057..143202935,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11707120	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12489165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059261	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079196	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404568	0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35312258	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs838619	0.86[YRI][hapmap]
rs838621	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143159600-143200800	Weak transcription	Esophagus	oesophagus
2	chr3:143163800-143203400	Weak transcription	Ovary	ovary
3	chr3:143174400-143220400	Weak transcription	Fetal Lung	lung
4	chr3:143176800-143220400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:143177200-143200800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:143177800-143204400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:143178000-143203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:143179400-143220400	Weak transcription	Brain Substantia Nigra	brain
9	chr3:143179800-143213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:143180200-143200600	Weak transcription	Aorta	Aorta
11	chr3:143184200-143198600	Weak transcription	Colonic Mucosa	Colon
12	chr3:143185800-143213800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:143186000-143201200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:143186000-143215600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:143186000-143223000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:143186400-143204400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:143191200-143211000	Weak transcription	Primary T cells from cord blood	blood
18	chr3:143191400-143231000	Weak transcription	Primary B cells from cord blood	blood
19	chr3:143192400-143211400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:143192400-143215200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:143193600-143198800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:143193800-143198800	Weak transcription	Fetal Intestine Large	intestine
23	chr3:143195200-143198600	Weak transcription	Thymus	Thymus
24	chr3:143196200-143198000	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:143196600-143200200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:143196600-143203800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:143197000-143198800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:143197000-143202800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:143197200-143197800	Enhancers	Fetal Kidney	kidney
30	chr3:143197400-143198400	Weak transcription	Dnd41	blood
31	chr3:143197400-143198600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:143197400-143198800	Weak transcription	Fetal Thymus	thymus
33	chr3:143197400-143199000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr3:143197400-143199400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:143197400-143201200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:143197400-143201600	Weak transcription	Fetal Stomach	stomach
37	chr3:143197400-143203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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