Variant report

Variant	rs1916022
Chromosome Location	chr7:150346437-150346438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150345053..150347622-chr7:150357976..150360904,2	MCF-7	breast:
2	chr7:150341180..150342757-chr7:150345704..150347785,2	K562	blood:
3	chr7:150345226..150346892-chr7:150353382..150356343,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11762727	0.93[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs11771561	0.85[CEU][hapmap]
rs11771962	0.84[EUR][1000 genomes]
rs12703077	0.92[CEU][hapmap]
rs12703083	0.85[CEU][hapmap]
rs12703093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12703094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13222905	0.85[CEU][hapmap]
rs13227870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13231629	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13231883	0.85[CEU][hapmap]
rs13232597	0.85[CEU][hapmap]
rs13242186	0.85[CEU][hapmap];0.87[GIH][hapmap]
rs13243108	0.85[ASN][1000 genomes]
rs13244793	0.98[EUR][1000 genomes]
rs13247903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860871	0.93[GIH][hapmap];0.83[JPT][hapmap]
rs2041574	0.92[JPT][hapmap]
rs2075078	0.83[JPT][hapmap]
rs2077672	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2103035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109999	0.89[JPT][hapmap]
rs2286900	0.81[GIH][hapmap];0.92[JPT][hapmap]
rs2293172	0.85[CEU][hapmap];0.94[GIH][hapmap]
rs2293174	0.92[CEU][hapmap]
rs2373802	0.92[CEU][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes]
rs2373815	0.85[CEU][hapmap]
rs2373850	0.92[JPT][hapmap]
rs34035420	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34454492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34701708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34882694	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34921151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35100689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35253919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35302655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35719526	0.97[EUR][1000 genomes]
rs35740621	0.98[EUR][1000 genomes]
rs35790299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735077	0.92[JPT][hapmap]
rs3735078	0.81[GIH][hapmap];0.92[JPT][hapmap]
rs3735079	0.92[CEU][hapmap]
rs4725352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4725353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725905	0.92[CEU][hapmap]
rs4725906	0.92[CEU][hapmap]
rs62491822	0.99[EUR][1000 genomes]
rs7800307	0.99[EUR][1000 genomes]
rs9691508	1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong 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
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	esv20721	chr7:150346277-150347170	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1916022	MLL3	cis	parietal	SCAN
rs1916022	ABP1	cis	normal skin	skin_eQTL
rs1916022	TMEM176B	cis	cerebellum	SCAN
rs1916022	GIMAP5	cis	lymphoblastoid	seeQTL
rs1916022	GIMAP4	cis	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150341800-150346800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr7:150341800-150347000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr7:150341800-150347200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:150341800-150347200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150341800-150347200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:150342200-150346600	Enhancers	Primary T cells from cord blood	blood
7	chr7:150342800-150347400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr7:150344000-150347000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:150344000-150347000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:150344400-150346600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:150344800-150346800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:150344800-150347000	Enhancers	GM12878-XiMat	blood
13	chr7:150345400-150346800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:150345800-150346600	Enhancers	Fetal Thymus	thymus
15	chr7:150345800-150346800	Enhancers	Dnd41	blood
16	chr7:150346000-150346800	Enhancers	Left Ventricle	heart
17	chr7:150346000-150346800	Enhancers	Right Ventricle	heart

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