Variant report

Variant	rs67319423
Chromosome Location	chr3:150151918-150151919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150124932..150129970-chr3:150151476..150155448,6	MCF-7	breast:
2	chr3:150145104..150146653-chr3:150150414..150151965,2	MCF-7	breast:
3	chr3:150146603..150148392-chr3:150150774..150152594,2	MCF-7	breast:
4	chr3:150149918..150153165-chr3:150155756..150158395,3	MCF-7	breast:
5	chr3:150151232..150153181-chr3:150211698..150213677,2	MCF-7	breast:
6	chr3:150134729..150137378-chr3:150149401..150152677,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10513373	0.84[ASN][1000 genomes]
rs10513374	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935800	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711035	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11719977	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12629077	0.82[AFR][1000 genomes]
rs12638309	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639090	0.98[ASN][1000 genomes]
rs13081231	0.99[ASN][1000 genomes]
rs13082720	0.80[ASN][1000 genomes]
rs13099758	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13321876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450335	0.80[ASN][1000 genomes]
rs1450336	0.80[ASN][1000 genomes]
rs16862627	0.84[ASN][1000 genomes]
rs16862644	0.84[ASN][1000 genomes]
rs16862648	0.91[AFR][1000 genomes]
rs28514580	0.80[ASN][1000 genomes]
rs4423794	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4681203	0.99[ASN][1000 genomes]
rs4681204	0.84[ASN][1000 genomes]
rs4681205	0.84[ASN][1000 genomes]
rs4681206	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4681207	0.84[ASN][1000 genomes]
rs4681615	0.80[ASN][1000 genomes]
rs4681616	0.84[ASN][1000 genomes]
rs4681617	0.84[ASN][1000 genomes]
rs4681618	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58628422	0.99[ASN][1000 genomes]
rs6762432	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6763024	0.82[AFR][1000 genomes]
rs6784048	0.99[ASN][1000 genomes]
rs6792734	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6795124	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73165707	0.84[ASN][1000 genomes]
rs7427177	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7626725	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7651353	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7651989	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9289810	0.80[ASN][1000 genomes]
rs9784335	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9813752	0.80[ASN][1000 genomes]
rs9826729	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846873	0.81[ASN][1000 genomes]
rs9865031	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9882777	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
5	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
7	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
9	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
11	chr3:150134600-150174800	Weak transcription	Dnd41	blood
12	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:150136000-150160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:150136200-150160000	Weak transcription	Fetal Brain Male	brain
15	chr3:150137200-150176200	Weak transcription	HepG2	liver
16	chr3:150138000-150159400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:150138200-150157400	Weak transcription	HSMMtube	muscle
18	chr3:150138200-150159400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:150140000-150164000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:150140000-150171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:150140000-150176200	Weak transcription	Fetal Stomach	stomach
22	chr3:150140200-150160400	Weak transcription	Fetal Kidney	kidney
23	chr3:150141400-150175200	Weak transcription	GM12878-XiMat	blood
24	chr3:150141800-150159400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:150141800-150164400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:150141800-150165000	Weak transcription	Brain Germinal Matrix	brain
27	chr3:150141800-150166800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:150142000-150153800	Weak transcription	Fetal Lung	lung
29	chr3:150142000-150159400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:150143200-150159200	Weak transcription	Fetal Thymus	thymus
31	chr3:150143400-150152000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:150144000-150153400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:150144000-150159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:150144200-150179000	Weak transcription	Aorta	Aorta
35	chr3:150145800-150153200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:150145800-150159400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:150146000-150153400	Weak transcription	NHDF-Ad	bronchial
38	chr3:150146000-150165000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:150146200-150152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:150146200-150157200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:150146600-150152000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:150146600-150152800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:150147000-150167200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr3:150147200-150160400	Weak transcription	Psoas Muscle	Psoas
45	chr3:150147400-150156000	Weak transcription	HUVEC	blood vessel
46	chr3:150147600-150159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:150148200-150153200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:150148200-150159200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:150148400-150157000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:150148400-150159200	Weak transcription	Fetal Intestine Large	intestine

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