Variant report

Variant	rs4690065
Chromosome Location	chr4:2903708-2903709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr4:2903577-2904155	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:2794368..2797381-chr4:2901324..2903887,3	MCF-7	breast:
2	chr4:2883697..2886623-chr4:2900900..2904831,4	MCF-7	breast:
3	chr4:2897346..2900302-chr4:2903352..2905568,2	MCF-7	breast:
4	chr4:2892098..2895386-chr4:2900898..2904479,3	K562	blood:

Variant related genes	Relation type
ADD1	TF binding region
ENSG00000087266	Chromatin interaction
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1012365	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1263338	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1263339	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1263342	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1263344	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1263345	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1263347	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1263349	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12642795	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419045	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16843452	0.85[ASN][1000 genomes]
rs16843523	0.89[ASN][1000 genomes]
rs2051560	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071695	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2097081	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2185885	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237004	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239728	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282772	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282773	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282774	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2285084	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301374	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2857866	0.83[EUR][1000 genomes]
rs3796469	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4690000	0.87[ASN][1000 genomes]
rs4690001	0.86[ASN][1000 genomes]
rs4961	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4963	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73082333	0.88[ASN][1000 genomes]
rs73189458	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs762847	0.84[ASN][1000 genomes]
rs7654786	0.83[ASN][1000 genomes]
rs7664801	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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	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	esv3419163	chr4:2898554-2904052	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr4:2870200-2914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:2876600-2919200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr4:2877200-2919400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:2880600-2915000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:2883600-2918600	Strong transcription	Fetal Stomach	stomach
6	chr4:2890400-2918000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:2893000-2907800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:2893000-2919400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:2893200-2907600	Strong transcription	Primary T cells from cord blood	blood
10	chr4:2893200-2907600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:2893200-2914000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:2893200-2918800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:2893200-2918800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr4:2893200-2919200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:2893200-2932600	Strong transcription	Fetal Thymus	thymus
16	chr4:2893400-2915800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:2893400-2918800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:2893400-2919000	Strong transcription	Fetal Muscle Leg	muscle
19	chr4:2893800-2909200	Strong transcription	Lung	lung
20	chr4:2893800-2918600	Strong transcription	Thymus	Thymus
21	chr4:2893800-2919000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr4:2894000-2903800	Strong transcription	Fetal Intestine Small	intestine
23	chr4:2894000-2923000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:2894400-2907600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:2894600-2907600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:2894800-2919800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:2895000-2907600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:2895000-2917800	Strong transcription	Dnd41	blood
29	chr4:2895200-2907800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:2895200-2915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:2895200-2919000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:2895400-2907800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:2895400-2908200	Strong transcription	HepG2	liver
34	chr4:2895400-2913000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:2895400-2915200	Strong transcription	Placenta	Placenta
36	chr4:2895400-2916200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:2895400-2919000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:2895600-2905400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:2895600-2914000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:2895600-2914200	Strong transcription	GM12878-XiMat	blood
41	chr4:2895600-2915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:2895600-2918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:2895600-2919200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:2895600-2919200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:2895800-2909000	Strong transcription	Liver	Liver
46	chr4:2895800-2919000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:2895800-2919200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:2895800-2919200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:2896400-2903800	Strong transcription	NHLF	lung
50	chr4:2896400-2911800	Strong transcription	Left Ventricle	heart

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