Variant report

Variant	rs3735085
Chromosome Location	chr7:150323805-150323806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150318567..150320599-chr7:150322127..150323984,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10224387	0.82[ASW][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[MKK][hapmap]
rs10231041	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10235151	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10243208	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10248553	0.80[ASN][1000 genomes]
rs10253121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255380	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10258838	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10272462	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10273606	0.86[CEU][hapmap]
rs1071922	0.81[ASN][1000 genomes]
rs11763094	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763374	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11768445	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11770532	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1317276	0.80[ASW][hapmap];0.82[CEU][hapmap]
rs3088115	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735084	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55642497	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57269277	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464081	0.85[CEU][hapmap]
rs6959171	0.82[CEU][hapmap]
rs6959264	0.82[CEU][hapmap]
rs7797456	0.80[CEU][hapmap]
rs7806724	0.81[CEU][hapmap]
rs9640279	0.82[CEU][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3735085	GIMAP5	Cis_1M	lymphoblastoid	RTeQTL
rs3735085	GIMAP6	Cis_1M	lymphoblastoid	RTeQTL
rs3735085	GIMAP4	cis	parietal	SCAN
rs3735085	MLL3	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150320400-150324400	Weak transcription	Gastric	stomach
2	chr7:150320600-150324400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:150321800-150324600	Weak transcription	Fetal Stomach	stomach
4	chr7:150321800-150326800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr7:150322200-150328400	Weak transcription	Fetal Intestine Small	intestine
6	chr7:150322400-150324000	Genic enhancers	Primary T cells from cord blood	blood
7	chr7:150322400-150324000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:150322600-150326800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:150323000-150324000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:150323000-150324000	Genic enhancers	Dnd41	blood
11	chr7:150323000-150325600	Strong transcription	Fetal Thymus	thymus
12	chr7:150323000-150326000	Strong transcription	HUVEC	blood vessel
13	chr7:150323200-150324400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:150323200-150324400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr7:150323200-150324600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:150323200-150326200	Genic enhancers	Lung	lung
17	chr7:150323200-150327200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:150323200-150327400	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr7:150323200-150327400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:150323200-150327600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:150323200-150327600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:150323200-150327800	Genic enhancers	Spleen	Spleen
23	chr7:150323400-150324200	Genic enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:150323400-150326200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:150323400-150327600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:150323400-150327600	Genic enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:150323400-150327600	Strong transcription	Thymus	Thymus
28	chr7:150323400-150327800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:150323400-150328200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:150323600-150324000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:150323600-150324400	Genic enhancers	Primary hematopoietic stem cells	blood
32	chr7:150323600-150324600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:150323600-150325400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:150323600-150327200	Genic enhancers	Adipose Nuclei	Adipose
35	chr7:150323600-150327400	Enhancers	Right Atrium	heart
36	chr7:150323600-150328000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
37	chr7:150323800-150324000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:150323800-150324000	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:150323800-150324200	Enhancers	Right Ventricle	heart
40	chr7:150323800-150324200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:150323800-150324800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
42	chr7:150323800-150324800	Strong transcription	Placenta	Placenta
43	chr7:150323800-150325000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:150323800-150326400	Genic enhancers	Left Ventricle	heart
45	chr7:150323800-150328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:150323800-150328400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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