Variant report

Variant	rs644413
Chromosome Location	chr13:30535011-30535012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11147404	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11841228	0.89[ASN][1000 genomes]
rs12429187	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12429599	0.95[ASN][1000 genomes]
rs12430579	0.95[ASN][1000 genomes]
rs12584184	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12584938	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2039952	0.95[ASN][1000 genomes]
rs4769789	0.93[ASN][1000 genomes]
rs481209	0.96[ASN][1000 genomes]
rs501259	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs502203	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs502944	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs533219	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs553661	0.96[ASN][1000 genomes]
rs564388	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576712	0.89[ASN][1000 genomes]
rs641826	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs643508	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490436	0.86[ASN][1000 genomes]
rs6490437	0.86[ASN][1000 genomes]
rs649164	0.83[ASN][1000 genomes]
rs655338	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66986978	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73159331	0.90[ASN][1000 genomes]
rs73159342	0.94[ASN][1000 genomes]
rs7327777	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7332851	0.86[ASN][1000 genomes]
rs7333780	0.93[ASN][1000 genomes]
rs7334559	0.89[ASN][1000 genomes]
rs7334714	0.89[ASN][1000 genomes]
rs7358905	0.93[ASN][1000 genomes]
rs7982470	0.95[ASN][1000 genomes]
rs7982637	0.93[ASN][1000 genomes]
rs7983558	0.95[ASN][1000 genomes]
rs7990062	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9314992	0.88[ASN][1000 genomes]
rs9551791	0.81[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30529600-30538000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:30532400-30535200	Weak transcription	Brain Germinal Matrix	brain
3	chr13:30532400-30535200	Weak transcription	Fetal Brain Male	brain
4	chr13:30533400-30535400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr13:30533400-30535600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr13:30533400-30535800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr13:30533600-30535400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:30533800-30535200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:30533800-30537600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:30533800-30537800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30534000-30537800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:30534000-30537800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:30534000-30537800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:30534200-30535400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:30534600-30535800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:30534600-30536200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:30534800-30535200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:30534800-30536000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:30534800-30536800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:30534800-30536800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:30535000-30535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr13:30535000-30536200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr13:30535000-30536200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:30535000-30536400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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