Variant report

Variant	rs6971006
Chromosome Location	chr7:150127485-150127486
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150125696..150128061-chr7:150128345..150131793,4	K562	blood:
2	chr7:150125990..150127951-chr7:150128739..150131315,4	K562	blood:
3	chr7:150120416..150122840-chr7:150125957..150128755,2	K562	blood:
4	chr7:150003788..150006557-chr7:150126189..150128283,2	K562	blood:
5	chr7:150101612..150104184-chr7:150124782..150128046,4	K562	blood:
6	chr7:150126141..150128325-chr7:150150954..150153217,2	K562	blood:
7	chr7:150016741..150020223-chr7:150126057..150129165,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000127399	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000242258	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]
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]
rs73726121	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:26 , 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	chr7:150124600-150127800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:150124600-150128600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:150124800-150127800	Enhancers	Spleen	Spleen
6	chr7:150126000-150127800	Enhancers	Colonic Mucosa	Colon
7	chr7:150126000-150127800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
8	chr7:150126000-150130200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:150126200-150128200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:150126400-150127600	Weak transcription	NHDF-Ad	bronchial
11	chr7:150126400-150127800	Enhancers	Dnd41	blood
12	chr7:150126400-150130000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:150126400-150130200	Weak transcription	Pancreas	Pancrea
14	chr7:150126400-150130800	Weak transcription	Esophagus	oesophagus
15	chr7:150126600-150127600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:150126600-150129000	Weak transcription	GM12878-XiMat	blood
17	chr7:150126600-150130200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:150126600-150132600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:150126800-150129800	Weak transcription	Fetal Thymus	thymus
21	chr7:150126800-150130200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:150127000-150128000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:150127000-150130000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:150127000-150130800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:150127200-150129000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150127400-150127800	Weak transcription	HSMMtube	muscle

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