Variant report

Variant	rs4858988
Chromosome Location	chr3:88120910-88120911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:88111449..88113297-chr3:88120532..88122822,2	K562	blood:
2	chr3:88117841..88121656-chr3:88124313..88127922,3	MCF-7	breast:
3	chr3:88114310..88116574-chr3:88119594..88122386,2	MCF-7	breast:
4	chr3:88120312..88123363-chr3:88127498..88130221,3	K562	blood:
5	chr3:88111449..88113994-chr3:88120532..88124879,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11128023	0.94[ASN][1000 genomes]
rs1367615	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2567037	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2735557	0.98[ASN][1000 genomes]
rs4241549	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4241550	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4287925	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4404474	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4425287	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4443201	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4513473	0.94[ASN][1000 genomes]
rs4858933	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4858987	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4858989	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6551270	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7615309	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7621357	0.94[ASN][1000 genomes]
rs7625641	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7633215	0.86[ASN][1000 genomes]
rs7633486	0.80[ASN][1000 genomes]
rs7636845	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7650912	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7650915	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9310064	0.82[AFR][1000 genomes]
rs9310069	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9310073	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9860113	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9864564	0.95[AFR][1000 genomes];0.98[ASN][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	nsv877146	chr3:87983962-88159835	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88109400-88124400	Weak transcription	Pancreas	Pancrea
2	chr3:88110000-88121000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:88110200-88124200	Weak transcription	Fetal Kidney	kidney
4	chr3:88111400-88121600	Weak transcription	Fetal Brain Male	brain
5	chr3:88111400-88124200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:88111400-88133600	Weak transcription	Brain Angular Gyrus	brain
7	chr3:88111400-88136200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:88111400-88136200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:88111600-88121200	Weak transcription	NHLF	lung
10	chr3:88111600-88123200	Weak transcription	Liver	Liver
11	chr3:88111600-88124000	Weak transcription	Right Atrium	heart
12	chr3:88111600-88124000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:88111600-88124000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:88111600-88124200	Weak transcription	Fetal Lung	lung
15	chr3:88111600-88135200	Weak transcription	HSMM	muscle
16	chr3:88111600-88135400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr3:88111600-88135600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:88111800-88123600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:88111800-88135400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:88112200-88136600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:88112200-88154200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:88112400-88121200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:88112400-88124400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:88112400-88143600	Weak transcription	HUVEC	blood vessel
25	chr3:88113200-88146200	Weak transcription	HMEC	breast
26	chr3:88113600-88121400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:88113800-88123000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:88113800-88134800	Weak transcription	Dnd41	blood
29	chr3:88114000-88122400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:88115200-88133400	Weak transcription	Left Ventricle	heart
31	chr3:88115600-88124000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:88116800-88124200	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:88116800-88139800	Weak transcription	Thymus	Thymus
34	chr3:88117000-88121600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:88117000-88124400	Weak transcription	Right Ventricle	heart
36	chr3:88117000-88133800	Weak transcription	Aorta	Aorta
37	chr3:88117000-88135800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:88117400-88124600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:88117600-88121200	Weak transcription	Primary B cells from cord blood	blood
40	chr3:88117600-88122400	Weak transcription	Primary T cells from cord blood	blood
41	chr3:88117600-88123800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:88118000-88121600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr3:88118000-88124200	Weak transcription	Fetal Heart	heart
44	chr3:88118000-88128800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:88118200-88122200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:88118200-88122800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:88118200-88124000	Weak transcription	K562	blood
48	chr3:88118800-88124200	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:88119400-88121600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:88119600-88121800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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