Variant report

Variant	rs34305991
Chromosome Location	chr4:107070553-107070554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10004034	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10017707	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10025668	0.84[ASN][1000 genomes]
rs10155346	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10516530	0.99[ASN][1000 genomes]
rs10516531	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097923	0.99[ASN][1000 genomes]
rs1134648	0.94[ASN][1000 genomes]
rs11936196	0.91[ASN][1000 genomes]
rs11938792	0.99[ASN][1000 genomes]
rs12508029	0.97[ASN][1000 genomes]
rs12512475	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17036581	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1988966	0.91[ASN][1000 genomes]
rs2212969	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2691805	0.94[ASN][1000 genomes]
rs2691806	0.94[ASN][1000 genomes]
rs2728176	0.94[ASN][1000 genomes]
rs2728177	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28418378	0.84[ASN][1000 genomes]
rs28600991	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2949626	0.93[ASN][1000 genomes]
rs2949649	0.88[ASN][1000 genomes]
rs2949651	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3018057	0.87[ASN][1000 genomes]
rs3018059	0.93[ASN][1000 genomes]
rs3018067	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3109950	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3109951	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3109952	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109954	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109956	0.94[ASN][1000 genomes]
rs3109959	0.95[ASN][1000 genomes]
rs3113246	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3113251	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133167	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133172	0.94[ASN][1000 genomes]
rs3133173	0.97[ASN][1000 genomes]
rs34909190	0.92[ASN][1000 genomes]
rs34923623	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4415033	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4441824	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4533833	0.92[ASN][1000 genomes]
rs4560491	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4582218	1.00[ASN][1000 genomes]
rs57983950	0.98[ASN][1000 genomes]
rs6533241	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6533244	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6836796	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6848855	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6853347	0.91[ASN][1000 genomes]
rs72960673	0.86[ASN][1000 genomes]
rs7442226	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7669347	0.85[ASN][1000 genomes]
rs7677394	1.00[ASN][1000 genomes]
rs7680756	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7694217	0.99[ASN][1000 genomes]
rs9884121	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9991203	0.84[ASN][1000 genomes]
rs9993259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879701	chr4:107024776-107163128	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv4450	chr4:107037823-107082669	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv508301	chr4:107049086-107092730	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv437411	chr4:107052107-107074097	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1799357	chr4:107058025-107099737	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1801434	chr4:107058025-107099737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1800933	chr4:107058025-107118662	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1802243	chr4:107058025-107118662	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1802962	chr4:107058025-107118662	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1803376	chr4:107058025-107118662	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1848076	chr4:107058334-107118662	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1851828	chr4:107059549-107118662	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv879702	chr4:107065718-107175191	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107035600-107083200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:107037800-107077400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:107038000-107112000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:107053800-107080000	Weak transcription	Right Ventricle	heart
5	chr4:107053800-107083400	Weak transcription	HSMM	muscle
6	chr4:107053800-107083800	Weak transcription	Left Ventricle	heart
7	chr4:107053800-107101600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:107054000-107074400	Weak transcription	HepG2	liver
9	chr4:107054000-107076800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:107054000-107077000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:107054000-107077000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:107054000-107077400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:107054000-107077400	Weak transcription	Aorta	Aorta
14	chr4:107054000-107077400	Weak transcription	Fetal Stomach	stomach
15	chr4:107054000-107077400	Weak transcription	Lung	lung
16	chr4:107054000-107081600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:107054000-107083200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:107054000-107083400	Weak transcription	Pancreas	Pancrea
19	chr4:107054000-107091000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:107054000-107113600	Weak transcription	Brain Anterior Caudate	brain
21	chr4:107054200-107083400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:107054600-107074400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:107056200-107077000	Weak transcription	Ovary	ovary
24	chr4:107056200-107083400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:107062200-107071200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:107065000-107083400	Weak transcription	Brain Germinal Matrix	brain
27	chr4:107066400-107151200	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:107066600-107071000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:107067400-107077000	Weak transcription	Fetal Lung	lung
30	chr4:107067400-107083600	Weak transcription	Fetal Kidney	kidney
31	chr4:107067800-107082600	Weak transcription	Fetal Brain Male	brain
32	chr4:107068000-107081200	Weak transcription	Psoas Muscle	Psoas
33	chr4:107068600-107083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:107068600-107083600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:107069200-107078400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:107069600-107070600	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr4:107070000-107070600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:107070000-107071200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr4:107070000-107077000	Weak transcription	Liver	Liver
40	chr4:107070200-107071000	Weak transcription	Primary B cells from cord blood	blood
41	chr4:107070200-107077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:107070200-107077400	Weak transcription	HSMMtube	muscle
43	chr4:107070200-107083200	Weak transcription	Brain Hippocampus Middle	brain
44	chr4:107070200-107083400	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:107070400-107071000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:107070400-107072000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:107070400-107077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:107070400-107077600	Weak transcription	Adipose Nuclei	Adipose
49	chr4:107070400-107083200	Weak transcription	Duodenum Mucosa	Duodenum

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