Variant report

Variant	rs57299368
Chromosome Location	chr7:150143975-150143976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150143565-150144368	GM12878	blood:	n/a	n/a
2	EBF1	chr7:150143834-150144056	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150139670..150141208-chr7:150142903..150145440,2	K562	blood:
2	chr7:150143548..150144244-chr7:150453342..150454315,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP8-1	chr7:150143788-150143977	ENSG00000242258

No data

Variant related genes	Relation type
GIMAP8	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10249236	1.00[EUR][1000 genomes]
rs11977022	1.00[EUR][1000 genomes]
rs11977772	1.00[EUR][1000 genomes]
rs55812434	1.00[EUR][1000 genomes]
rs55992343	1.00[EUR][1000 genomes]
rs56305034	1.00[EUR][1000 genomes]
rs57716148	1.00[EUR][1000 genomes]
rs58255573	1.00[EUR][1000 genomes]
rs58613922	1.00[EUR][1000 genomes]
rs6464065	1.00[EUR][1000 genomes]
rs6946830	1.00[EUR][1000 genomes]
rs73726126	1.00[EUR][1000 genomes]
rs73726130	1.00[EUR][1000 genomes]
rs7776587	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:150131400-150147600	Weak transcription	Colonic Mucosa	Colon
3	chr7:150139400-150146000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:150140000-150144200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:150140600-150144200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:150140600-150147600	Enhancers	Fetal Thymus	thymus
7	chr7:150141800-150144600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:150142000-150145600	Enhancers	Dnd41	blood
9	chr7:150142200-150145200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:150142600-150145600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:150142600-150145600	Weak transcription	Spleen	Spleen
12	chr7:150142800-150144200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:150143000-150145400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:150143000-150145600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:150143200-150144200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:150143200-150145600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:150143400-150144000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:150143400-150144000	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:150143400-150144000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr7:150143400-150144000	Enhancers	Adipose Nuclei	Adipose
21	chr7:150143400-150144000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:150143400-150144000	Genic enhancers	GM12878-XiMat	blood
23	chr7:150143400-150144200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:150143400-150144400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:150143400-150144400	Enhancers	Liver	Liver
26	chr7:150143400-150145800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:150143400-150146000	Enhancers	Primary T cells from cord blood	blood
28	chr7:150143600-150144000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:150143800-150144000	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:150143800-150144000	Enhancers	Colon Smooth Muscle	Colon
31	chr7:150143800-150144000	Enhancers	Right Atrium	heart
32	chr7:150143800-150144000	Enhancers	Hela-S3	cervix
33	chr7:150143800-150144200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:150143800-150144200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:150143800-150144200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:150143800-150144400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:150143800-150144400	Enhancers	Left Ventricle	heart
38	chr7:150143800-150144400	Enhancers	Psoas Muscle	Psoas
39	chr7:150143800-150147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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