Variant report

Variant	rs6872300
Chromosome Location	chr5:7871621-7871622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16879237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16879249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16879316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16879367	1.00[AMR][1000 genomes]
rs16879402	1.00[AMR][1000 genomes]
rs60594625	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73737656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73737657	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7870000-7873000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:7870000-7875400	Weak transcription	Spleen	Spleen
3	chr5:7870200-7871800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:7870200-7872000	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:7870200-7872000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr5:7870200-7873400	Flanking Active TSS	GM12878-XiMat	blood
7	chr5:7870200-7875400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:7870200-7875600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:7870200-7875600	Weak transcription	HSMMtube	muscle
10	chr5:7870200-7875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:7870200-7875800	Weak transcription	Esophagus	oesophagus
12	chr5:7870200-7875800	Weak transcription	Gastric	stomach
13	chr5:7870200-7876000	Weak transcription	Fetal Brain Male	brain
14	chr5:7870200-7879800	Weak transcription	Pancreas	Pancrea
15	chr5:7870200-7882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:7870200-7903400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:7870400-7872000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr5:7870400-7872200	Enhancers	Stomach Mucosa	stomach
19	chr5:7870400-7872600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:7870400-7873200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:7870400-7873600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:7870400-7874400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr5:7870400-7875400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:7870400-7875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:7870400-7875600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:7870600-7871800	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:7870600-7872000	Enhancers	Liver	Liver
28	chr5:7870600-7872000	Enhancers	Brain Anterior Caudate	brain
29	chr5:7870600-7872000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:7870600-7873000	Genic enhancers	HSMM	muscle
31	chr5:7870600-7874800	Weak transcription	Fetal Kidney	kidney
32	chr5:7870600-7876200	Weak transcription	Fetal Stomach	stomach
33	chr5:7870600-7878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:7870600-7878400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:7870800-7871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:7870800-7871800	Enhancers	Brain Germinal Matrix	brain
37	chr5:7870800-7871800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:7870800-7872000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr5:7870800-7872200	Enhancers	HepG2	liver
40	chr5:7870800-7872800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr5:7870800-7872800	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:7870800-7873200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr5:7870800-7875400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:7870800-7875600	Weak transcription	Fetal Brain Female	brain
45	chr5:7870800-7879800	Weak transcription	Colonic Mucosa	Colon
46	chr5:7871000-7871800	Enhancers	Fetal Intestine Large	intestine
47	chr5:7871000-7872000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr5:7871000-7872000	Enhancers	Psoas Muscle	Psoas
49	chr5:7871000-7872400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr5:7871000-7872800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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