Variant report

Variant	rs3113521
Chromosome Location	chr4:143116231-143116232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1219266	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1219268	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1219269	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1219270	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1219272	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1219275	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12500144	0.83[EUR][1000 genomes]
rs1390994	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1497139	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532450	0.85[EUR][1000 genomes]
rs182862	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1907135	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1907137	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2322544	0.84[ASN][1000 genomes]
rs2627801	0.84[ASN][1000 genomes]
rs2636666	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113522	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs336384	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34648309	0.87[EUR][1000 genomes]
rs992257	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:143071000-143117800	Weak transcription	Psoas Muscle	Psoas
4	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:143081000-143128200	Weak transcription	NHDF-Ad	bronchial
6	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:143089400-143118000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:143090000-143117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:143092400-143131000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:143095000-143128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:143095000-143128200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
14	chr4:143098600-143116600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:143102400-143125600	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:143102400-143128000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:143109800-143118000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr4:143110200-143118000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:143110200-143119200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:143113200-143117800	Strong transcription	HMEC	breast
22	chr4:143113400-143117600	Weak transcription	Small Intestine	intestine
23	chr4:143114000-143128000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:143114400-143120600	Weak transcription	Dnd41	blood
25	chr4:143114400-143127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:143114400-143127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:143114400-143128000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:143114600-143116800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:143114600-143117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:143114600-143117000	Weak transcription	HSMMtube	muscle
31	chr4:143114600-143117400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:143114600-143128000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:143114600-143128400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:143114600-143128400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:143114800-143128000	Weak transcription	NHEK	skin
37	chr4:143115000-143116800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:143115000-143117200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:143115200-143116400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:143115200-143116800	Weak transcription	HSMM	muscle
41	chr4:143115400-143116400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:143115400-143117400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:143115400-143117600	Strong transcription	Primary T cells from cord blood	blood
44	chr4:143115400-143117800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:143115400-143126400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:143115600-143116600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:143115600-143116600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:143115600-143116600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:143115600-143116800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:143115600-143117200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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