Variant report

Variant	rs17054975
Chromosome Location	chr6:128045725-128045726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10457503	0.81[ASN][1000 genomes]
rs12206811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1448051	0.94[ASN][1000 genomes]
rs1550944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2786230	0.94[ASN][1000 genomes]
rs3009959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs35182011	0.85[ASN][1000 genomes]
rs471565	0.91[ASN][1000 genomes]
rs476132	0.94[ASN][1000 genomes]
rs476366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs494043	0.91[ASN][1000 genomes]
rs495063	0.91[ASN][1000 genomes]
rs498692	0.94[ASN][1000 genomes]
rs513605	0.91[ASN][1000 genomes]
rs513716	0.91[ASN][1000 genomes]
rs525267	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs525850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs527206	0.89[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs528725	0.94[ASN][1000 genomes]
rs540252	0.91[ASN][1000 genomes]
rs540328	0.91[ASN][1000 genomes]
rs543982	0.91[ASN][1000 genomes]
rs546732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs553910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs557258	0.91[ASN][1000 genomes]
rs559832	0.89[ASN][1000 genomes]
rs566051	0.94[ASN][1000 genomes]
rs568675	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs570462	0.87[ASN][1000 genomes]
rs57595174	0.96[ASN][1000 genomes]
rs579512	0.94[ASN][1000 genomes]
rs580388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs586500	0.94[ASN][1000 genomes]
rs601132	0.91[ASN][1000 genomes]
rs613936	0.91[ASN][1000 genomes]
rs620250	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs629648	0.94[ASN][1000 genomes]
rs641326	0.94[ASN][1000 genomes]
rs643912	0.94[ASN][1000 genomes]
rs658570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs658838	0.94[ASN][1000 genomes]
rs661254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs668527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs675531	0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs677431	0.91[ASN][1000 genomes]
rs680461	0.91[ASN][1000 genomes]
rs6918575	0.85[ASN][1000 genomes]
rs722916	0.96[ASN][1000 genomes]
rs72968949	0.87[EUR][1000 genomes];0.87[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	nsv886638	chr6:127954614-128087172	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv886639	chr6:127954614-128109244	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv886640	chr6:127961263-128096587	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886641	chr6:127971136-128085283	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886642	chr6:127971136-128096587	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv886643	chr6:127971136-128109244	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv886644	chr6:127976408-128109244	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv886645	chr6:127977160-128085283	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv886646	chr6:127977160-128087172	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv886647	chr6:127977160-128109244	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv886648	chr6:127983009-128109244	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv830799	chr6:128033100-128194511	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17054975	THEMIS	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128024600-128051400	Strong transcription	Fetal Thymus	thymus
2	chr6:128025200-128047400	Strong transcription	Primary T cells from cord blood	blood
3	chr6:128026400-128049200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:128039800-128046000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:128039800-128069200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:128040400-128052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:128041000-128048600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:128041200-128050400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:128043400-128046600	Weak transcription	Ovary	ovary
10	chr6:128043800-128047000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr6:128044000-128045800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:128044400-128045800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:128044600-128045800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:128044600-128050200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:128045000-128047000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:128045400-128045800	Enhancers	Colon Smooth Muscle	Colon
17	chr6:128045600-128045800	Enhancers	Fetal Lung	lung
18	chr6:128045600-128047000	Weak transcription	Thymus	Thymus
19	chr6:128045600-128069200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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