Variant report

Variant	rs6816224
Chromosome Location	chr4:88346510-88346511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88342302..88345638-chr4:88345920..88348886,5	K562	blood:
2	chr4:88345779..88348484-chr4:88376364..88379281,2	K562	blood:
3	chr4:88344098..88346850-chr4:88347399..88349099,3	MCF-7	breast:
4	chr4:88340563..88342774-chr4:88344260..88346848,4	MCF-7	breast:
5	chr4:88342695..88344657-chr4:88345813..88347482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170502	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10010988	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10025902	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10027786	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10032597	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11945232	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13103927	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13113575	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13138404	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13138636	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13150578	0.84[EUR][1000 genomes]
rs28372775	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28406846	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28502849	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28609242	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28630962	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28701008	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28736552	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34549877	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35322242	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35371368	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4314250	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6854710	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7659182	0.83[EUR][1000 genomes];0.90[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	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88344400-88398600	Weak transcription	Gastric	stomach
2	chr4:88344600-88356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:88344600-88356200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:88345000-88346600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:88345200-88346600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:88345200-88346800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:88345200-88346800	Enhancers	Lung	lung
8	chr4:88345200-88347200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:88345200-88356200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:88345200-88356200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:88345200-88356800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:88345200-88362800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:88345200-88363000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:88345200-88400000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:88345200-88416400	Weak transcription	Colonic Mucosa	Colon
16	chr4:88345400-88346600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:88345400-88346600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:88345400-88346600	Active TSS	Duodenum Mucosa	Duodenum
19	chr4:88345400-88346600	Enhancers	Osteobl	bone
20	chr4:88345400-88346800	Enhancers	Liver	Liver
21	chr4:88345400-88346800	Enhancers	Psoas Muscle	Psoas
22	chr4:88345400-88347000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:88345400-88347000	Enhancers	Stomach Mucosa	stomach
24	chr4:88345400-88347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:88345400-88347200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:88345400-88347200	Enhancers	Ovary	ovary
27	chr4:88345400-88347200	Enhancers	NHEK	skin
28	chr4:88345400-88351800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:88345400-88356000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:88345400-88356000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:88345400-88356000	Weak transcription	Fetal Stomach	stomach
32	chr4:88345400-88356200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:88345400-88356200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:88345400-88356200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:88345400-88356200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr4:88345400-88356200	Weak transcription	Adipose Nuclei	Adipose
37	chr4:88345400-88356800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:88345400-88357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:88345400-88357600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:88345400-88359400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:88345400-88359400	Weak transcription	Fetal Thymus	thymus
42	chr4:88345400-88361400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:88345400-88363400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:88345400-88372400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:88345400-88378800	Weak transcription	A549	lung
46	chr4:88345600-88354400	Weak transcription	Fetal Lung	lung
47	chr4:88345600-88357000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:88345800-88346600	Enhancers	HMEC	breast
49	chr4:88345800-88348200	Enhancers	Pancreas	Pancrea
50	chr4:88345800-88356800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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