Variant report

Variant	rs4864861
Chromosome Location	chr4:55097685-55097686
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	chr4:55094459..55096231-chr4:55096303..55097882,2	K562	blood:

Variant related genes	Relation type
ENSG00000134853	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11133315	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12505491	0.81[ASN][1000 genomes]
rs12506290	0.81[ASN][1000 genomes]
rs12508225	0.81[ASN][1000 genomes]
rs12641563	0.81[ASN][1000 genomes]
rs12644709	0.81[ASN][1000 genomes]
rs12644749	0.81[ASN][1000 genomes]
rs1565669	0.81[ASN][1000 genomes]
rs1565670	0.81[ASN][1000 genomes]
rs17084051	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800809	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800810	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1800812	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800813	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229307	0.81[ASN][1000 genomes]
rs2307049	0.81[ASN][1000 genomes]
rs28489067	0.80[ASN][1000 genomes]
rs28528897	0.81[ASN][1000 genomes]
rs28600756	0.81[ASN][1000 genomes]
rs4358459	0.81[ASN][1000 genomes]
rs4368668	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4422471	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4608869	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4635872	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864857	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864858	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864859	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864860	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864862	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864863	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864864	0.81[ASN][1000 genomes]
rs4864865	0.81[ASN][1000 genomes]
rs56145315	0.81[ASN][1000 genomes]
rs58435984	0.85[ASN][1000 genomes]
rs58727676	0.81[ASN][1000 genomes]
rs60806423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60863210	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61320297	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554158	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6554160	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67279506	0.81[ASN][1000 genomes]
rs67432867	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67600360	0.81[ASN][1000 genomes]
rs6831380	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6832597	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6836215	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846502	0.81[AMR][1000 genomes]
rs6850748	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73252942	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252946	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73252948	0.81[ASN][1000 genomes]
rs7660560	0.81[ASN][1000 genomes]
rs7673027	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7673597	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673625	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7673853	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7673984	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676972	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7677751	0.95[ASN][1000 genomes]
rs7678144	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679903	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681399	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682912	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7686588	0.81[ASN][1000 genomes]
rs7688997	0.81[ASN][1000 genomes]
rs7689569	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690503	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691129	0.81[ASN][1000 genomes]
rs7698425	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890203	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890205	0.81[AMR][1000 genomes]
rs9991165	0.85[AMR][1000 genomes];0.86[ASN][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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002905	chr4:55093677-55115698	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr4:55092000-55100800	Active TSS	Aorta	Aorta
3	chr4:55092400-55097800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:55092400-55100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:55093200-55100800	Active TSS	NHDF-Ad	bronchial
6	chr4:55093200-55102000	Active TSS	Ovary	ovary
7	chr4:55093800-55097800	Bivalent/Poised TSS	Fetal Lung	lung
8	chr4:55094200-55099000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr4:55094200-55100800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:55094400-55098000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
11	chr4:55094400-55098600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:55094600-55097800	Bivalent Enhancer	HUVEC	blood vessel
13	chr4:55094600-55098000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr4:55094600-55098200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr4:55094800-55100800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:55095000-55097800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr4:55095000-55100400	Active TSS	Osteobl	bone
18	chr4:55095000-55100600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:55095000-55100800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:55095200-55098800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:55095600-55099400	Bivalent/Poised TSS	Psoas Muscle	Psoas
22	chr4:55095600-55100600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr4:55095800-55098600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
24	chr4:55095800-55098600	Bivalent/Poised TSS	Small Intestine	intestine
25	chr4:55096000-55100000	Bivalent/Poised TSS	Thymus	Thymus
26	chr4:55096000-55100600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:55096000-55100800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr4:55096200-55098200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr4:55096200-55098600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr4:55096200-55098800	Flanking Bivalent TSS/Enh	Placenta	Placenta
34	chr4:55096200-55099000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
35	chr4:55096200-55099200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr4:55096200-55099400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr4:55096400-55098000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:55096400-55098400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:55096400-55098800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr4:55096400-55098800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr4:55096600-55098200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:55096600-55098400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr4:55096600-55098400	Transcr. at gene 5' and 3'	NHLF	lung
44	chr4:55096600-55098800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr4:55096600-55098800	Bivalent/Poised TSS	HSMM	muscle
46	chr4:55096600-55099400	Bivalent/Poised TSS	Colonic Mucosa	Colon
47	chr4:55096600-55100600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:55096600-55100600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:55096600-55101400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:55096800-55097800	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain

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