Variant report

Variant	rs35920857
Chromosome Location	chr4:48229928-48229929
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	chr4:48222896..48226335-chr4:48226766..48230334,4	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12504870	0.85[EUR][1000 genomes]
rs12507853	0.97[EUR][1000 genomes]
rs13103259	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13104355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13120599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13121247	0.97[EUR][1000 genomes]
rs13125176	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1355218	0.97[EUR][1000 genomes]
rs17471308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17471321	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17574806	0.97[EUR][1000 genomes]
rs17574819	0.97[EUR][1000 genomes]
rs17574847	0.97[EUR][1000 genomes]
rs2352597	0.97[EUR][1000 genomes]
rs2457412	0.97[EUR][1000 genomes]
rs2664021	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664030	0.97[EUR][1000 genomes]
rs2704391	0.97[EUR][1000 genomes]
rs2704394	0.97[EUR][1000 genomes]
rs2704403	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2704404	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2704412	0.97[EUR][1000 genomes]
rs34292660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34712902	0.97[EUR][1000 genomes]
rs35912788	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36103122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4694891	0.85[EUR][1000 genomes]
rs55657817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60092950	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6826144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6850058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73246007	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73817608	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7658983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7659013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7663382	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7669018	0.97[EUR][1000 genomes]
rs7678247	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7678843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698045	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9996158	0.97[EUR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48214800-48231200	Weak transcription	Liver	Liver
2	chr4:48215600-48232400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
4	chr4:48221400-48230400	Weak transcription	Pancreas	Pancrea
5	chr4:48222000-48235000	Weak transcription	Fetal Thymus	thymus
6	chr4:48223200-48231400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:48224600-48230600	Weak transcription	Adipose Nuclei	Adipose
8	chr4:48224600-48231200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:48225800-48231400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:48226400-48231200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:48227000-48231800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:48227400-48231200	Weak transcription	Fetal Lung	lung
13	chr4:48227800-48230200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:48228200-48230400	Weak transcription	Esophagus	oesophagus
15	chr4:48228200-48232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:48228400-48231200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:48228400-48231400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr4:48228600-48231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:48228800-48236200	Weak transcription	Primary B cells from cord blood	blood
20	chr4:48229400-48230000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:48229400-48230000	Enhancers	Placenta	Placenta
22	chr4:48229600-48230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:48229600-48230000	Genic enhancers	Primary hematopoietic stem cells	blood
24	chr4:48229600-48230000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
25	chr4:48229600-48230000	Enhancers	Stomach Mucosa	stomach
26	chr4:48229600-48230000	Enhancers	HSMMtube	muscle
27	chr4:48229600-48231200	Genic enhancers	K562	blood
28	chr4:48229800-48230000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:48229800-48230000	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:48229800-48230000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:48229800-48230000	Enhancers	Thymus	Thymus
32	chr4:48229800-48230200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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