Variant report

Variant	rs73726121
Chromosome Location	chr7:150130861-150130862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150099718..150102062-chr7:150129624..150131770,3	K562	blood:
2	chr7:150064404..150066708-chr7:150128401..150130893,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP8-1	chr7:150130742-150130917	ENSG00000242258
2	lnc-GIMAP8-1	chr7:150130742-150130917	XLOC_006293
3	lnc-GIMAP8-1	chr7:150130838-150130917	XLOC_006293
4	lnc-GIMAP8-1	chr7:150130838-150130917	XLOC_006293
5	lnc-GIMAP8-1	chr7:150130838-150130917	XLOC_006293

No data

Variant related genes	Relation type
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55775481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60499586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61676552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6970763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6970874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726119	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726124	1.00[AFR][1000 genomes];1.00[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
2	chr7:150110200-150142200	Weak transcription	Gastric	stomach
3	chr7:150126600-150132600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:150127800-150131000	Weak transcription	Colonic Mucosa	Colon
6	chr7:150127800-150138800	Weak transcription	Spleen	Spleen
7	chr7:150129200-150132600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:150129800-150131000	Enhancers	Fetal Thymus	thymus
9	chr7:150129800-150134200	Enhancers	Primary B cells from cord blood	blood
10	chr7:150130000-150131000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150130000-150131200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:150130000-150131400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:150130000-150131400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:150130200-150131400	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:150130200-150133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:150130400-150131200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:150130400-150131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:150130400-150131400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr7:150130400-150131400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:150130400-150133600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:150130400-150133600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:150130600-150131400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:150130600-150131400	Active TSS	GM12878-XiMat	blood
24	chr7:150130800-150131000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:150130800-150131200	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:150130800-150131400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr7:150130800-150131400	Active TSS	Duodenum Mucosa	Duodenum
28	chr7:150130800-150132400	Enhancers	Placenta	Placenta
29	chr7:150130800-150133000	Enhancers	K562	blood

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