Variant report

Variant	rs58196520
Chromosome Location	chr4:2917283-2917284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2916201..2917764-chr4:2963610..2965346,2	K562	blood:
2	chr4:2908128..2910686-chr4:2915793..2918014,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000087269	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1034400	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488838	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263331	1.00[ASN][1000 genomes]
rs13061	0.83[AFR][1000 genomes]
rs1574473	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843169	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843481	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843500	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857845	1.00[ASN][1000 genomes]
rs34120252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34241425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34550139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34745961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34945392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35508581	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35893718	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35913891	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36038921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41528047	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4969	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56975682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57155428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57174035	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57557041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57763208	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58059873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58132256	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58731679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58758786	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58928665	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59426248	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59786983	1.00[ASN][1000 genomes]
rs59790260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59798370	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60169711	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61117606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61339714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2876600-2919200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr4:2877200-2919400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2883600-2918600	Strong transcription	Fetal Stomach	stomach
4	chr4:2890400-2918000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:2893000-2919400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:2893200-2918800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:2893200-2918800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr4:2893200-2919200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
10	chr4:2893400-2918800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:2893400-2919000	Strong transcription	Fetal Muscle Leg	muscle
12	chr4:2893800-2918600	Strong transcription	Thymus	Thymus
13	chr4:2893800-2919000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr4:2894000-2923000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:2894800-2919800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:2895000-2917800	Strong transcription	Dnd41	blood
17	chr4:2895200-2919000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr4:2895400-2919000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:2895600-2918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:2895600-2919200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:2895600-2919200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:2895800-2919000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:2895800-2919200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:2895800-2919200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:2896400-2918000	Strong transcription	HSMMtube	muscle
26	chr4:2896600-2918800	Strong transcription	Adipose Nuclei	Adipose
27	chr4:2896800-2918000	Strong transcription	Spleen	Spleen
28	chr4:2896800-2918800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr4:2897200-2917800	Strong transcription	NHEK	skin
30	chr4:2898600-2917400	Strong transcription	Primary B cells from cord blood	blood
31	chr4:2899800-2918400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:2899800-2919600	Strong transcription	Brain Germinal Matrix	brain
33	chr4:2901200-2934600	Weak transcription	Hela-S3	cervix
34	chr4:2903000-2925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:2903200-2918800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:2903200-2919200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:2903200-2919200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr4:2904000-2918600	Strong transcription	Fetal Intestine Large	intestine
39	chr4:2904000-2919000	Strong transcription	Rectal Smooth Muscle	rectum
40	chr4:2904200-2918600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:2904200-2918800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:2904400-2918600	Strong transcription	Fetal Intestine Small	intestine
43	chr4:2904600-2919200	Strong transcription	Fetal Brain Female	brain
44	chr4:2904800-2918600	Strong transcription	Ovary	ovary
45	chr4:2904800-2918800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr4:2904800-2919600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:2905000-2917600	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr4:2905000-2917800	Strong transcription	NHLF	lung
49	chr4:2905000-2918800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:2905000-2919000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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