Variant report

Variant	rs13389178
Chromosome Location	chr2:10301617-10301618
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
2	chr2:10299807..10303440-chr2:10586234..10589711,3	K562	blood:
3	chr2:10299318..10302918-chr2:10305124..10307341,4	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11886995	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16855939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668669	1.00[CHD][hapmap]
rs4669546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800275	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56051374	0.83[ASN][1000 genomes]
rs60070538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786680	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786683	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786685	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788345	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788356	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788357	0.83[ASN][1000 genomes]
rs7569024	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873636	chr2:10300390-10331919	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10276600-10301800	Weak transcription	Osteobl	bone
5	chr2:10277600-10321600	Weak transcription	K562	blood
6	chr2:10278000-10302200	Weak transcription	HSMM	muscle
7	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:10285400-10302000	Weak transcription	HMEC	breast
10	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:10286400-10301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
14	chr2:10286600-10304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:10286800-10312400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:10287000-10301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:10287000-10303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:10287000-10312000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:10288400-10307600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:10290200-10351400	Strong transcription	Dnd41	blood
21	chr2:10293000-10307600	Weak transcription	Gastric	stomach
22	chr2:10293400-10302800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:10295400-10306400	Strong transcription	Thymus	Thymus
24	chr2:10296000-10302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:10296000-10303800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:10296200-10310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:10296200-10314400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:10296400-10310400	Weak transcription	Hela-S3	cervix
29	chr2:10296400-10312400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:10296400-10312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:10296800-10303600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:10296800-10304400	Weak transcription	HepG2	liver
33	chr2:10296800-10309800	Weak transcription	A549	lung
34	chr2:10299000-10303800	Enhancers	Fetal Intestine Large	intestine
35	chr2:10299000-10304200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:10299200-10305200	Enhancers	HUVEC	blood vessel
37	chr2:10299600-10304400	Enhancers	Fetal Brain Male	brain
38	chr2:10299600-10305800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:10299800-10310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:10300000-10307400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:10300200-10307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:10300400-10301800	Weak transcription	NH-A	brain
43	chr2:10300400-10302200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:10300400-10302400	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:10300400-10302600	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:10300600-10301800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:10300600-10301800	Weak transcription	Fetal Brain Female	brain
48	chr2:10300600-10302200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:10300600-10302400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:10300600-10303000	Strong transcription	Fetal Thymus	thymus

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