Variant report

Variant	rs843563
Chromosome Location	chr4:121656722-121656723
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	chr4:121650109..121652030-chr4:121655352..121657399,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10019591	1.00[AMR][1000 genomes]
rs10019777	1.00[AMR][1000 genomes]
rs1376103	1.00[AMR][1000 genomes]
rs1376108	1.00[AMR][1000 genomes]
rs1390562	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1496255	1.00[AMR][1000 genomes]
rs1496264	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1584594	1.00[AMR][1000 genomes]
rs17051246	1.00[AMR][1000 genomes]
rs1826806	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1839475	1.00[AMR][1000 genomes]
rs1868717	1.00[AMR][1000 genomes]
rs1901134	1.00[AMR][1000 genomes]
rs2597543	1.00[AMR][1000 genomes]
rs2667193	1.00[AMR][1000 genomes]
rs2667194	1.00[AMR][1000 genomes]
rs28477468	1.00[AMR][1000 genomes]
rs28879750	1.00[AMR][1000 genomes]
rs2941872	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2941873	1.00[AMR][1000 genomes]
rs3106315	1.00[AMR][1000 genomes]
rs343174	1.00[AMR][1000 genomes]
rs343186	1.00[AMR][1000 genomes]
rs343188	1.00[AMR][1000 genomes]
rs343207	1.00[AMR][1000 genomes]
rs343208	1.00[AMR][1000 genomes]
rs59072184	1.00[AMR][1000 genomes]
rs6820869	1.00[AMR][1000 genomes]
rs705115	1.00[AMR][1000 genomes]
rs843552	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843558	1.00[AMR][1000 genomes]
rs843559	1.00[AMR][1000 genomes]
rs843567	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843578	1.00[AMR][1000 genomes]
rs896063	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121620800-121671400	Weak transcription	Pancreas	Pancrea
2	chr4:121625600-121657600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:121626000-121658200	Weak transcription	Aorta	Aorta
4	chr4:121630000-121671400	Weak transcription	Ovary	ovary
5	chr4:121641200-121670400	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:121641400-121669600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:121642800-121670600	Weak transcription	Fetal Stomach	stomach
8	chr4:121644200-121658200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:121645800-121662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:121647200-121671400	Weak transcription	Fetal Lung	lung
11	chr4:121647400-121670600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:121648200-121671600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:121648200-121671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:121648400-121660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:121648400-121670600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:121649600-121670800	Weak transcription	Fetal Intestine Large	intestine
17	chr4:121651200-121669200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:121652000-121673600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:121652400-121670800	Weak transcription	Right Ventricle	heart
20	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:121653000-121658600	Weak transcription	Right Atrium	heart
22	chr4:121653000-121660400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:121653000-121662000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:121653000-121662600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:121653000-121662800	Weak transcription	Lung	lung
26	chr4:121653200-121671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:121653200-121672200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:121654600-121660200	Weak transcription	Esophagus	oesophagus
29	chr4:121655200-121659200	Enhancers	Fetal Heart	heart
30	chr4:121655800-121657000	Enhancers	Left Ventricle	heart
31	chr4:121656000-121670600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:121656200-121657200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:121656200-121661600	Weak transcription	Fetal Thymus	thymus
34	chr4:121656400-121656800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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