Variant report

Variant	rs922936
Chromosome Location	chr1:74476321-74476322
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74471005..74474027-chr1:74475988..74480230,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1032082	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10493530	0.96[CEU][hapmap];0.87[JPT][hapmap]
rs10493531	0.82[JPT][hapmap]
rs10789387	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10789388	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10890108	0.83[JPT][hapmap]
rs11210404	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11210405	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs11210417	0.80[CEU][hapmap]
rs11210418	0.80[CEU][hapmap]
rs11579809	0.82[JPT][hapmap]
rs12033705	0.81[JPT][hapmap]
rs12036659	0.81[JPT][hapmap]
rs12043976	0.81[JPT][hapmap]
rs12122433	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs12402231	0.81[JPT][hapmap]
rs12746942	0.81[JPT][hapmap]
rs1483793	0.83[CEU][hapmap]
rs1483795	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1843023	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs1856789	0.81[JPT][hapmap]
rs2128935	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2343864	0.80[CEU][hapmap]
rs4142948	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4142949	0.92[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap]
rs4649996	0.83[JPT][hapmap]
rs4650243	0.82[JPT][hapmap]
rs4650245	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs545664	0.81[CEU][hapmap]
rs6676103	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6676622	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7535929	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7550195	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1013244	chr1:74441655-74680703	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv535001	chr1:74441655-74680703	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv470717	chr1:74445584-74532587	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1411	chr1:74471385-74498563	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs922936	MGC22773	cis	multi-tissue	Pritchard
rs922936	LRRIQ3	cis	Nerve Tibial	GTEx
rs922936	LRRIQ3	cis	Thyroid	GTEx
rs922936	LRRC44	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74475600-74476400	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:74475600-74476400	Active TSS	Hela-S3	cervix
3	chr1:74475600-74476400	Active TSS	HepG2	liver
4	chr1:74475800-74476400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:74475800-74476400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:74475800-74476400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:74475800-74476400	Active TSS	A549	lung
8	chr1:74475800-74476400	Flanking Active TSS	Dnd41	blood
9	chr1:74476000-74476400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:74476000-74476400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:74476000-74476600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:74476200-74476400	Active TSS	Primary T cells fromperipheralblood	blood

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