Variant report

Variant	rs2728177
Chromosome Location	chr4:107276636-107276637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107275880..107279456-chr4:107281523..107285039,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10004034	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10017707	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10025668	0.80[ASN][1000 genomes]
rs11097923	0.95[ASN][1000 genomes]
rs1134648	1.00[ASN][1000 genomes]
rs11938792	0.95[ASN][1000 genomes]
rs12512475	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036581	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2691805	1.00[ASN][1000 genomes]
rs2691806	1.00[ASN][1000 genomes]
rs2728176	1.00[ASN][1000 genomes]
rs28418378	0.80[ASN][1000 genomes]
rs2949626	0.99[ASN][1000 genomes]
rs2949649	0.94[ASN][1000 genomes]
rs2949651	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018057	0.93[ASN][1000 genomes]
rs3018059	0.99[ASN][1000 genomes]
rs3018067	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3109950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3109951	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3109952	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109954	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109956	1.00[ASN][1000 genomes]
rs3109959	0.98[ASN][1000 genomes]
rs3113246	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3113251	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133167	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133172	1.00[ASN][1000 genomes]
rs3133173	0.96[ASN][1000 genomes]
rs34305991	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4415033	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4441824	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4560491	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4582218	0.94[ASN][1000 genomes]
rs57983950	0.94[ASN][1000 genomes]
rs6533241	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533244	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6848855	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7442226	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7669347	0.81[ASN][1000 genomes]
rs7677394	0.94[ASN][1000 genomes]
rs7680756	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7694217	0.95[ASN][1000 genomes]
rs9991203	0.80[ASN][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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 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	chr4:107258600-107281400	Weak transcription	Fetal Heart	heart
2	chr4:107260200-107276800	Weak transcription	Psoas Muscle	Psoas
3	chr4:107260800-107285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:107270200-107277200	Weak transcription	A549	lung
5	chr4:107270200-107280400	Weak transcription	NH-A	brain
6	chr4:107270400-107277000	Weak transcription	GM12878-XiMat	blood
7	chr4:107270400-107277600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:107270400-107280000	Weak transcription	Fetal Kidney	kidney
9	chr4:107270600-107286200	Weak transcription	HepG2	liver
10	chr4:107270800-107277800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:107270800-107283200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:107271200-107278200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:107271200-107286400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:107271400-107278600	Weak transcription	NHDF-Ad	bronchial
16	chr4:107272200-107280400	Weak transcription	HSMM	muscle
17	chr4:107272800-107280000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:107273000-107276800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:107273000-107280200	Weak transcription	NHEK	skin
20	chr4:107273000-107286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:107273000-107286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:107273200-107276800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:107273200-107277600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:107273200-107280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:107273400-107282000	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:107274000-107276800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:107274600-107278600	Weak transcription	Left Ventricle	heart
28	chr4:107275000-107279000	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:107276000-107279600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:107276400-107276800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:107276400-107276800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:107276400-107276800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:107276400-107276800	Active TSS	Aorta	Aorta
34	chr4:107276400-107276800	Active TSS	Stomach Smooth Muscle	stomach
35	chr4:107276400-107276800	Enhancers	K562	blood
36	chr4:107276400-107276800	Enhancers	NHLF	lung
37	chr4:107276400-107276800	Flanking Active TSS	Osteobl	bone
38	chr4:107276400-107277000	Active TSS	Right Atrium	heart
39	chr4:107276400-107279000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr4:107276600-107276800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:107276600-107276800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:107276600-107276800	Enhancers	Adipose Nuclei	Adipose
43	chr4:107276600-107276800	Active TSS	Brain Anterior Caudate	brain
44	chr4:107276600-107276800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr4:107276600-107276800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:107276600-107276800	Enhancers	Gastric	stomach
47	chr4:107276600-107276800	Enhancers	Ovary	ovary
48	chr4:107276600-107276800	Enhancers	Pancreas	Pancrea
49	chr4:107276600-107277000	Active TSS	Liver	Liver

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