Variant report

Variant	rs60621865
Chromosome Location	chr2:97598001-97598002
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97596756..97599401-chr2:97603450..97605798,2	K562	blood:
2	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
3	chr2:97582821..97585259-chr2:97596994..97599468,2	K562	blood:
4	chr2:97597541..97599425-chr2:97607276..97609222,2	MCF-7	breast:
5	chr2:97595378..97599170-chr2:97599205..97602080,3	K562	blood:
6	chr2:97587758..97596829-chr2:97597446..97601811,11	K562	blood:
7	chr2:97591472..97593317-chr2:97596171..97598868,2	MCF-7	breast:
8	chr2:97588776..97591371-chr2:97597850..97600657,3	MCF-7	breast:
9	chr2:97590809..97593385-chr2:97597939..97599860,2	MCF-7	breast:
10	chr2:97596397..97598597-chr2:97601804..97605684,3	MCF-7	breast:
11	chr2:97534503..97536354-chr2:97596244..97598088,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11897551	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320147	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393393	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13403225	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404734	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13407036	0.80[AMR][1000 genomes]
rs2872686	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574488	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594227	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
10	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
11	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
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60621865	FAM178B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97593600-97599400	Weak transcription	Gastric	stomach
2	chr2:97593800-97599200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:97594000-97610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97594200-97598400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:97596000-97598200	Enhancers	Brain Cingulate Gyrus	brain
6	chr2:97596200-97598200	Enhancers	Brain Angular Gyrus	brain
7	chr2:97596200-97598400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:97596800-97598200	Enhancers	Brain Germinal Matrix	brain
9	chr2:97596800-97598400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr2:97597200-97598200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr2:97597200-97598200	Enhancers	HMEC	breast
12	chr2:97597200-97606000	Weak transcription	Fetal Thymus	thymus
13	chr2:97597600-97599600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:97597800-97598200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:97597800-97598200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:97597800-97598200	Enhancers	Esophagus	oesophagus
17	chr2:97597800-97598200	Bivalent Enhancer	Placenta	Placenta
18	chr2:97597800-97598200	Active TSS	Pancreas	Pancrea
19	chr2:97597800-97599200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:97598000-97598200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:97598000-97598200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:97598000-97598200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:97598000-97598200	Enhancers	Fetal Brain Female	brain
24	chr2:97598000-97598600	Enhancers	K562	blood
25	chr2:97598000-97599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:97598000-97599200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:97598000-97599200	Weak transcription	Brain Substantia Nigra	brain
28	chr2:97598000-97599200	Weak transcription	Fetal Brain Male	brain
29	chr2:97598000-97601800	Weak transcription	Right Atrium	heart

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