Variant report

Variant	rs2446302
Chromosome Location	chr4:89826349-89826350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10019862	0.84[ASN][1000 genomes]
rs10028121	0.84[ASN][1000 genomes]
rs10033435	0.81[ASN][1000 genomes]
rs10033476	0.81[ASN][1000 genomes]
rs1246630	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246633	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1246637	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1246638	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1246639	0.85[EUR][1000 genomes]
rs1246641	0.88[ASN][1000 genomes]
rs1272570	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13106968	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13148439	0.84[ASN][1000 genomes]
rs1458552	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458553	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458555	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1903004	0.84[ASN][1000 genomes]
rs1903009	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2045516	0.88[ASN][1000 genomes]
rs2125410	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2446295	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2446309	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2464521	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2464526	0.84[ASN][1000 genomes]
rs2464527	0.83[AMR][1000 genomes]
rs2609254	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2609263	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2609266	0.84[ASN][1000 genomes]
rs2609274	0.88[ASN][1000 genomes]
rs2609278	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2609281	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2609284	0.81[ASN][1000 genomes]
rs2704572	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2704588	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2704591	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2704593	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2704602	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2704603	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2704606	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28624770	0.84[ASN][1000 genomes]
rs28658282	0.84[ASN][1000 genomes]
rs2869965	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869968	0.88[ASN][1000 genomes]
rs4498109	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59698155	0.84[ASN][1000 genomes]
rs7673427	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7697878	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922027	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs973680	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs987314	0.88[ASN][1000 genomes]
rs993358	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89809200-89828800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:89816000-89829000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:89816600-89827400	Weak transcription	Fetal Kidney	kidney
4	chr4:89816800-89827800	Weak transcription	Fetal Brain Male	brain
5	chr4:89818000-89829000	Weak transcription	Pancreas	Pancrea
6	chr4:89818800-89828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:89820000-89859200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:89821600-89827800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:89821800-89829200	Weak transcription	Osteobl	bone
10	chr4:89822800-89828400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:89824200-89826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:89824400-89829000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:89824600-89834000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:89824800-89829000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:89825000-89826400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr4:89825000-89828600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:89825000-89831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:89825200-89826400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:89825200-89829000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:89825400-89826600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:89825600-89826800	Strong transcription	Fetal Stomach	stomach
22	chr4:89825600-89827000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:89825600-89827200	Strong transcription	Placenta	Placenta
24	chr4:89825600-89827400	Strong transcription	Ovary	ovary
25	chr4:89825600-89827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:89825600-89878400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:89825800-89826600	Strong transcription	Fetal Intestine Small	intestine
28	chr4:89825800-89827000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:89825800-89827200	Strong transcription	Fetal Lung	lung
30	chr4:89825800-89828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:89826000-89827600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:89826000-89828400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:89826000-89829000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:89826000-89829000	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:89826000-89829000	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:89826000-89832600	Weak transcription	Adipose Nuclei	Adipose
37	chr4:89826000-89839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:89826200-89826400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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