Variant report

Variant	rs7982470
Chromosome Location	chr13:30532369-30532370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11147404	0.98[ASN][1000 genomes]
rs11841228	0.91[ASN][1000 genomes]
rs12429187	0.98[ASN][1000 genomes]
rs12429599	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430579	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584184	0.98[ASN][1000 genomes]
rs12584938	0.90[ASN][1000 genomes]
rs2039952	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs481209	0.98[ASN][1000 genomes]
rs501259	0.98[ASN][1000 genomes]
rs502203	0.98[ASN][1000 genomes]
rs502944	0.98[ASN][1000 genomes]
rs512583	0.81[CHB][hapmap]
rs533219	0.98[ASN][1000 genomes]
rs553661	0.98[ASN][1000 genomes]
rs564388	0.98[ASN][1000 genomes]
rs566495	0.80[CHB][hapmap]
rs576712	0.91[ASN][1000 genomes]
rs641826	0.98[ASN][1000 genomes]
rs643508	0.98[ASN][1000 genomes]
rs644413	0.95[ASN][1000 genomes]
rs6490436	0.88[ASN][1000 genomes]
rs6490437	0.89[ASN][1000 genomes]
rs649164	0.88[ASN][1000 genomes]
rs655338	0.98[ASN][1000 genomes]
rs66986978	0.96[ASN][1000 genomes]
rs73159331	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73159335	0.98[AFR][1000 genomes]
rs73159342	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7327777	0.98[ASN][1000 genomes]
rs7332851	0.88[ASN][1000 genomes]
rs7333780	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334559	0.91[ASN][1000 genomes]
rs7334714	0.91[ASN][1000 genomes]
rs7358905	0.95[ASN][1000 genomes]
rs7982637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7983558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990062	0.90[ASN][1000 genomes]
rs9314992	0.91[ASN][1000 genomes]
rs9551791	0.83[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30529600-30532400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:30529600-30532400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:30529600-30532600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr13:30529600-30538000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:30530600-30533800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:30530600-30534000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:30530600-30534000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:30530600-30534000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:30530600-30534000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:30530800-30532400	Enhancers	Fetal Brain Male	brain
11	chr13:30530800-30533600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:30530800-30533800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:30531000-30534200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:30531600-30532400	Enhancers	Stomach Smooth Muscle	stomach
15	chr13:30531600-30532600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:30531600-30532600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:30531600-30533200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr13:30531600-30533400	Enhancers	Primary T cells from cord blood	blood
19	chr13:30531600-30533800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:30531800-30532400	Enhancers	Brain Germinal Matrix	brain
21	chr13:30531800-30532800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:30531800-30533000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:30531800-30533600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr13:30532000-30532800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:30532000-30533400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr13:30532200-30532600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:30532200-30533000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr13:30532200-30533200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:30532200-30533200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr13:30532200-30533400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr13:30532200-30533600	Enhancers	Primary T helper cells fromperipheralblood	blood

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