Variant report

Variant	rs298974
Chromosome Location	chr4:119636034-119636035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119615672..119618475-chr4:119634767..119636395,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1064034	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs167246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298975	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298983	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298984	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298987	0.98[EUR][1000 genomes]
rs298991	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs298992	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298994	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298996	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298998	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs299005	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs366656	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs368669	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419292	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606665	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7697022	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
6	chr4:119609000-119636200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:119609200-119636200	Strong transcription	Adipose Nuclei	Adipose
8	chr4:119609200-119648600	Weak transcription	Fetal Heart	heart
9	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
11	chr4:119626600-119646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:119626600-119648000	Weak transcription	Psoas Muscle	Psoas
13	chr4:119626800-119642200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:119626800-119644800	Weak transcription	Aorta	Aorta
15	chr4:119627200-119645000	Weak transcription	Spleen	Spleen
16	chr4:119627400-119645200	Weak transcription	Gastric	stomach
17	chr4:119627400-119645600	Weak transcription	Pancreas	Pancrea
18	chr4:119627400-119648600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:119627800-119642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:119627800-119646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:119627800-119648600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:119628000-119639600	Weak transcription	NHEK	skin
23	chr4:119628000-119640800	Weak transcription	Fetal Brain Male	brain
24	chr4:119628000-119646400	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:119628000-119647000	Weak transcription	Brain Substantia Nigra	brain
26	chr4:119628000-119659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:119628200-119641800	Weak transcription	HepG2	liver
28	chr4:119628200-119647800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:119628400-119657600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:119629400-119642200	Weak transcription	Lung	lung
31	chr4:119629400-119642600	Weak transcription	Fetal Intestine Small	intestine
32	chr4:119629400-119644400	Weak transcription	Ovary	ovary
33	chr4:119629800-119636600	Strong transcription	Primary T cells from cord blood	blood
34	chr4:119629800-119636800	Weak transcription	Fetal Brain Female	brain
35	chr4:119630400-119674200	Weak transcription	A549	lung
36	chr4:119631400-119644400	Weak transcription	Colonic Mucosa	Colon
37	chr4:119631600-119639400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:119631600-119644400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:119631600-119645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:119631600-119648800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:119631600-119650800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:119631800-119638400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:119631800-119639600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:119631800-119642000	Weak transcription	Left Ventricle	heart
45	chr4:119631800-119642200	Weak transcription	NHLF	lung
46	chr4:119631800-119645000	Weak transcription	Right Ventricle	heart
47	chr4:119631800-119645400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:119631800-119646000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:119631800-119646000	Weak transcription	Thymus	Thymus
50	chr4:119631800-119649800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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