Variant report

Variant	rs72905087
Chromosome Location	chr4:99852825-99852826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99849107..99853067-chr4:99958393..99961916,5	K562	blood:
2	chr4:99849574..99853806-chr4:100008192..100011466,4	MCF-7	breast:
3	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
4	chr4:99850538..99853067-chr4:99958598..99961528,2	K562	blood:
5	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:
6	chr4:99848578..99852948-chr4:99876464..99882582,7	K562	blood:

Variant related genes	Relation type
ENSG00000246090	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000214886	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs6833875	0.82[AFR][1000 genomes]
rs72893532	0.82[AFR][1000 genomes]
rs72893536	0.82[AFR][1000 genomes]
rs72893542	0.82[AFR][1000 genomes]
rs72893550	0.82[AFR][1000 genomes]
rs72893554	0.82[AFR][1000 genomes]
rs72893558	0.82[AFR][1000 genomes]
rs72905040	0.82[AFR][1000 genomes]
rs72905051	0.82[AFR][1000 genomes]
rs72905078	0.82[AFR][1000 genomes]
rs72905084	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99851400-99853000	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:99851400-99858000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:99851800-99853600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:99851800-99853800	Weak transcription	HSMM	muscle
5	chr4:99851800-99853800	Weak transcription	HSMMtube	muscle
6	chr4:99852000-99853400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:99852000-99853600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:99852000-99853600	Weak transcription	Primary B cells from cord blood	blood
9	chr4:99852000-99853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:99852000-99853600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:99852000-99853600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:99852000-99853600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:99852000-99853600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:99852000-99853600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:99852000-99853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:99852000-99853600	Weak transcription	GM12878-XiMat	blood
17	chr4:99852000-99853600	Weak transcription	NHEK	skin
18	chr4:99852000-99853600	Weak transcription	Osteobl	bone
19	chr4:99852000-99853800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:99852000-99853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:99852000-99853800	Weak transcription	NHDF-Ad	bronchial
22	chr4:99852000-99854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:99852000-99854000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:99852000-99854200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:99852000-99855800	Weak transcription	HepG2	liver
26	chr4:99852000-99859000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:99852000-99859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:99852000-99859200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:99852000-99859400	Weak transcription	Stomach Mucosa	stomach
30	chr4:99852200-99859400	Weak transcription	HMEC	breast
31	chr4:99852400-99853400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:99852400-99853800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:99852600-99855200	Enhancers	HUVEC	blood vessel

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