Variant report

Variant	rs28571974
Chromosome Location	chr3:150154023-150154024
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150146891..150148422-chr3:150153050..150155459,2	MCF-7	breast:
2	chr3:150093712..150096521-chr3:150152654..150154725,2	K562	blood:
3	chr3:149954201..149957042-chr3:150153556..150155488,2	K562	blood:
4	chr3:150124932..150129970-chr3:150151476..150155448,6	MCF-7	breast:
5	chr3:150087916..150090460-chr3:150152430..150154050,2	K562	blood:

Variant related genes	Relation type
ENSG00000244541	Chromatin interaction
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10513368	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513369	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513370	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513371	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513372	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513375	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713072	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11714034	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11714123	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11925759	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11928577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928948	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066114	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13067910	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13068946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13073230	0.93[ASN][1000 genomes]
rs13076419	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13089766	0.87[EUR][1000 genomes]
rs13317818	0.89[ASN][1000 genomes]
rs1376027	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17278131	0.86[ASN][1000 genomes]
rs28587291	0.89[ASN][1000 genomes]
rs2868430	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34106738	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34156311	0.93[ASN][1000 genomes]
rs34419133	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34503712	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34647320	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34983941	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35019980	0.87[EUR][1000 genomes]
rs35234277	0.82[ASN][1000 genomes]
rs35598887	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3749400	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811719	0.89[ASN][1000 genomes]
rs61734437	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66816665	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67073112	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67100311	0.87[EUR][1000 genomes]
rs6791546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6799106	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6799981	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73165716	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73167540	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7614772	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7618493	0.89[ASN][1000 genomes]
rs7620193	0.89[ASN][1000 genomes]
rs7621019	0.89[ASN][1000 genomes]
rs7623100	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827736	0.82[ASN][1000 genomes]
rs9844735	0.89[ASN][1000 genomes]
rs9875752	0.89[ASN][1000 genomes]
rs9879140	0.89[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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
4	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
6	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
8	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
10	chr3:150134600-150174800	Weak transcription	Dnd41	blood
11	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:150136000-150160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:150136200-150160000	Weak transcription	Fetal Brain Male	brain
14	chr3:150137200-150176200	Weak transcription	HepG2	liver
15	chr3:150138000-150159400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr3:150138200-150157400	Weak transcription	HSMMtube	muscle
17	chr3:150138200-150159400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:150140000-150164000	Weak transcription	Fetal Intestine Small	intestine
19	chr3:150140000-150171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:150140000-150176200	Weak transcription	Fetal Stomach	stomach
21	chr3:150140200-150160400	Weak transcription	Fetal Kidney	kidney
22	chr3:150141400-150175200	Weak transcription	GM12878-XiMat	blood
23	chr3:150141800-150159400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:150141800-150164400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:150141800-150165000	Weak transcription	Brain Germinal Matrix	brain
26	chr3:150141800-150166800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:150142000-150159400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:150143200-150159200	Weak transcription	Fetal Thymus	thymus
29	chr3:150144000-150159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:150144200-150179000	Weak transcription	Aorta	Aorta
31	chr3:150145800-150159400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:150146000-150165000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:150146200-150157200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:150147000-150167200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:150147200-150160400	Weak transcription	Psoas Muscle	Psoas
36	chr3:150147400-150156000	Weak transcription	HUVEC	blood vessel
37	chr3:150147600-150159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:150148200-150159200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:150148400-150157000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:150148400-150159200	Weak transcription	Fetal Intestine Large	intestine
41	chr3:150148400-150165200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:150148600-150157000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:150148600-150157000	Weak transcription	A549	lung
44	chr3:150148600-150157000	Weak transcription	NHEK	skin
45	chr3:150148600-150157200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:150148600-150159200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:150148600-150159200	Weak transcription	Primary T cells from cord blood	blood
48	chr3:150148600-150159400	Weak transcription	Primary B cells from cord blood	blood
49	chr3:150148600-150159400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:150148600-150161200	Weak transcription	Hela-S3	cervix

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