Variant report

Variant	rs11719977
Chromosome Location	chr3:150145634-150145635
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150143267..150145656-chr3:150195329..150196876,2	K562	blood:
2	chr3:150145104..150146653-chr3:150150414..150151965,2	MCF-7	breast:
3	chr3:150138486..150140659-chr3:150145400..150147517,2	MCF-7	breast:
4	chr3:150093624..150096109-chr3:150142914..150145659,2	K562	blood:
5	chr3:150144742..150146773-chr3:150154309..150156409,2	MCF-7	breast:
6	chr3:150145113..150147525-chr3:150161177..150163956,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10513373	0.81[ASN][1000 genomes]
rs10513374	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10935800	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11711035	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12638309	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12639090	0.94[ASN][1000 genomes]
rs13081231	0.95[ASN][1000 genomes]
rs13082720	0.80[ASN][1000 genomes]
rs13099758	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13321876	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1450335	0.80[ASN][1000 genomes]
rs1450336	0.80[ASN][1000 genomes]
rs16862627	0.81[ASN][1000 genomes]
rs16862644	0.81[ASN][1000 genomes]
rs28514580	0.80[ASN][1000 genomes]
rs4423794	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4681203	0.95[ASN][1000 genomes]
rs4681204	0.81[ASN][1000 genomes]
rs4681205	0.81[ASN][1000 genomes]
rs4681206	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4681207	0.81[ASN][1000 genomes]
rs4681615	0.80[ASN][1000 genomes]
rs4681616	0.81[ASN][1000 genomes]
rs4681617	0.81[ASN][1000 genomes]
rs4681618	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58628422	0.95[ASN][1000 genomes]
rs67319423	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6762432	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6784048	0.95[ASN][1000 genomes]
rs6792734	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6795124	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73165707	0.81[ASN][1000 genomes]
rs7427177	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7626725	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7651353	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7651989	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9289810	0.80[ASN][1000 genomes]
rs9784335	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9813752	0.80[ASN][1000 genomes]
rs9826729	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9846873	0.81[ASN][1000 genomes]
rs9865031	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9882777	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	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
4	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv822291	chr3:150143146-150148557	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 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	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
8	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
10	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
16	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:150134000-150146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:150134000-150147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
20	chr3:150134600-150146000	Weak transcription	Stomach Mucosa	stomach
21	chr3:150134600-150174800	Weak transcription	Dnd41	blood
22	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:150136000-150145800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:150136000-150160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:150136200-150146000	Weak transcription	Psoas Muscle	Psoas
26	chr3:150136200-150160000	Weak transcription	Fetal Brain Male	brain
27	chr3:150136400-150148000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:150137200-150176200	Weak transcription	HepG2	liver
29	chr3:150137600-150148000	Weak transcription	Hela-S3	cervix
30	chr3:150138000-150151200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:150138000-150151200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:150138000-150159400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr3:150138200-150157400	Weak transcription	HSMMtube	muscle
34	chr3:150138200-150159400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:150138400-150146000	Weak transcription	Liver	Liver
36	chr3:150139400-150146000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:150139800-150148000	Weak transcription	Fetal Intestine Large	intestine
38	chr3:150140000-150146000	Weak transcription	Small Intestine	intestine
39	chr3:150140000-150146800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:150140000-150147000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:150140000-150151400	Strong transcription	HSMM	muscle
42	chr3:150140000-150164000	Weak transcription	Fetal Intestine Small	intestine
43	chr3:150140000-150171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:150140000-150176200	Weak transcription	Fetal Stomach	stomach
45	chr3:150140200-150146400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:150140200-150146600	Weak transcription	A549	lung
47	chr3:150140200-150147000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:150140200-150147000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:150140200-150147200	Weak transcription	Primary T cells from cord blood	blood
50	chr3:150140200-150151200	Weak transcription	Brain Hippocampus Middle	brain

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