Variant report

Variant	rs3800786
Chromosome Location	chr7:150413912-150413913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150411749..150416479-chr7:150417256..150421069,5	K562	blood:

Variant related genes	Relation type
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10248822	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488372	0.83[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];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055240	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1558479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080051	0.85[ASN][1000 genomes]
rs4725928	0.84[ASN][1000 genomes]
rs6464093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464094	0.87[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]

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	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
8	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
9	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3800786	GIMAP5	cis	normal skin	skin_eQTL
rs3800786	RARRES2	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150412400-150416000	Active TSS	Psoas Muscle	Psoas
2	chr7:150412800-150416000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:150412800-150416400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr7:150412800-150416400	Active TSS	Right Atrium	heart
5	chr7:150413000-150415000	Flanking Active TSS	Dnd41	blood
6	chr7:150413000-150415200	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:150413000-150415800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:150413000-150415800	Active TSS	Adipose Nuclei	Adipose
9	chr7:150413000-150416200	Active TSS	Left Ventricle	heart
10	chr7:150413200-150414400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr7:150413200-150415400	Active TSS	Lung	lung
12	chr7:150413200-150415400	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:150413200-150415400	Active TSS	Small Intestine	intestine
14	chr7:150413200-150415400	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:150413200-150415800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:150413200-150415800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150413200-150415800	Active TSS	Duodenum Mucosa	Duodenum
18	chr7:150413200-150416000	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr7:150413400-150414400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:150413400-150415200	Active TSS	Primary T cells from cord blood	blood
21	chr7:150413400-150415400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr7:150413400-150415400	Active TSS	Fetal Muscle Leg	muscle
23	chr7:150413400-150415600	Active TSS	Primary T cells fromperipheralblood	blood
24	chr7:150413400-150415600	Active TSS	Liver	Liver
25	chr7:150413400-150415800	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:150413400-150416000	Active TSS	Brain Anterior Caudate	brain
27	chr7:150413600-150414000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:150413600-150414000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:150413600-150414000	Active TSS	Fetal Lung	lung
30	chr7:150413600-150414200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr7:150413600-150414200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr7:150413600-150414200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:150413600-150414400	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr7:150413600-150414400	Active TSS	Esophagus	oesophagus
35	chr7:150413600-150414400	Active TSS	Fetal Kidney	kidney
36	chr7:150413600-150414400	Flanking Active TSS	Fetal Thymus	thymus
37	chr7:150413600-150414400	Active TSS	Gastric	stomach
38	chr7:150413600-150414400	Active TSS	Pancreas	Pancrea
39	chr7:150413600-150414600	Active TSS	Fetal Intestine Large	intestine
40	chr7:150413600-150414600	Active TSS	Fetal Intestine Small	intestine
41	chr7:150413600-150414800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr7:150413600-150415000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:150413600-150415000	Active TSS	Fetal Stomach	stomach
44	chr7:150413600-150415200	Active TSS	Colonic Mucosa	Colon
45	chr7:150413600-150415200	Active TSS	Fetal Muscle Trunk	muscle
46	chr7:150413600-150415400	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:150413600-150415400	Active TSS	Brain Hippocampus Middle	brain
48	chr7:150413600-150415400	Active TSS	Placenta	Placenta
49	chr7:150413600-150415400	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:150413600-150415400	Active TSS	Sigmoid Colon	Sigmoid Colon

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