Variant report

Variant	rs6802271
Chromosome Location	chr3:141516843-141516844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141516207..141518074-chr3:141524566..141526212,2	K562	blood:
2	chr3:141514623..141517093-chr3:141594365..141597102,3	K562	blood:
3	chr3:141506457..141509205-chr3:141516157..141517714,2	K562	blood:
4	chr3:141510389..141512648-chr3:141516090..141517721,2	K562	blood:
5	chr3:141516830..141519139-chr3:141521410..141524381,2	K562	blood:
6	chr1:241682721..241683224-chr3:141516507..141517007,2	NB4	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction
ENSG00000091483	Chromatin interaction
ENSG00000265391	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10513157	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16851811	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59360993	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60532289	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796429	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982427	1.00[AMR][1000 genomes]
rs72982439	1.00[AMR][1000 genomes]
rs72982440	1.00[AMR][1000 genomes]
rs72982452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141513600-141517800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:141513800-141517000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:141514000-141517800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:141514200-141517200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:141514200-141517600	Flanking Active TSS	Dnd41	blood
6	chr3:141514600-141517600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr3:141514800-141517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:141514800-141517800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:141515000-141517200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:141515000-141517600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr3:141515000-141517800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr3:141515200-141517000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:141515200-141517200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr3:141515200-141517200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr3:141515200-141517200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr3:141515200-141517200	Flanking Active TSS	HSMMtube	muscle
17	chr3:141515200-141517400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr3:141515200-141517400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:141515200-141517600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:141515200-141517600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr3:141515200-141517600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr3:141515200-141517600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr3:141515200-141517600	Flanking Active TSS	Fetal Thymus	thymus
24	chr3:141515200-141518000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:141515400-141517000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr3:141515600-141517200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr3:141515800-141517000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr3:141515800-141517000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:141515800-141517000	Active TSS	Psoas Muscle	Psoas
30	chr3:141515800-141517000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr3:141515800-141517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:141515800-141517200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr3:141515800-141517200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:141515800-141517200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr3:141515800-141517200	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr3:141515800-141517200	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr3:141515800-141517600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr3:141516000-141517000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:141516000-141517000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:141516000-141517000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:141516000-141517000	Active TSS	Brain Cingulate Gyrus	brain
42	chr3:141516000-141517000	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr3:141516000-141517000	Flanking Active TSS	Placenta	Placenta
44	chr3:141516000-141517000	Flanking Active TSS	HUVEC	blood vessel
45	chr3:141516000-141518800	Weak transcription	K562	blood
46	chr3:141516200-141517000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
47	chr3:141516200-141517000	Flanking Active TSS	Liver	Liver
48	chr3:141516200-141517000	Active TSS	Brain Angular Gyrus	brain
49	chr3:141516200-141517000	Flanking Active TSS	Fetal Lung	lung
50	chr3:141516200-141517000	Flanking Active TSS	HepG2	liver

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