Variant report

Variant	rs363066
Chromosome Location	chr4:3135953-3135954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3131735..3134352-chr4:3135491..3137800,2	K562	blood:
2	chr4:3113490..3115240-chr4:3135179..3136981,2	MCF-7	breast:
3	chr4:3108221..3121308-chr4:3131274..3142057,27	MCF-7	breast:
4	chr4:3134602..3136261-chr4:3137032..3139810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs110501	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs16843804	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16843836	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17780797	0.87[ASN][1000 genomes]
rs1891701	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2024115	1.00[CHB][hapmap]
rs2071655	1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2071671	0.89[JPT][hapmap]
rs2269477	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269499	1.00[ASW][hapmap];0.85[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap]
rs2285086	1.00[CHB][hapmap]
rs2298967	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2298971	0.83[ASN][1000 genomes]
rs2798221	0.85[JPT][hapmap]
rs28403215	0.92[ASN][1000 genomes]
rs2857935	0.83[EUR][1000 genomes]
rs3095077	0.85[JPT][hapmap]
rs3095081	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs3121419	0.95[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs362271	0.90[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs362272	1.00[ASW][hapmap];0.90[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs362273	0.95[CEU][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs362275	0.82[EUR][1000 genomes]
rs362306	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap]
rs362331	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs362336	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs363063	0.96[ASN][1000 genomes]
rs363064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs363088	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs363092	0.83[ASN][1000 genomes]
rs363096	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs363099	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3856973	0.95[CHB][hapmap]
rs4690011	0.93[ASN][1000 genomes]
rs4690072	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4690073	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4690075	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55962025	0.85[ASN][1000 genomes]
rs59613878	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60197694	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61792530	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6446722	0.82[ASN][1000 genomes]
rs6446723	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs66684864	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6844859	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs6855981	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73193303	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7659144	1.00[CHB][hapmap]
rs7685686	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7691627	0.94[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs82332	0.81[EUR][1000 genomes]
rs82333	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs82334	0.81[EUR][1000 genomes]
rs916171	0.81[CHB][hapmap];0.95[JPT][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3097200-3143400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:3106400-3145000	Strong transcription	Dnd41	blood
8	chr4:3108600-3136600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:3109200-3142600	Strong transcription	GM12878-XiMat	blood
12	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
13	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:3115800-3143400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:3116000-3136200	Strong transcription	Liver	Liver
18	chr4:3124200-3138400	Strong transcription	NH-A	brain
19	chr4:3124800-3138000	Strong transcription	Primary T cells from cord blood	blood
20	chr4:3125200-3163000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:3125200-3163200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:3125400-3145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:3126000-3137000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:3126000-3137800	Strong transcription	Thymus	Thymus
25	chr4:3126000-3144000	Strong transcription	Left Ventricle	heart
26	chr4:3126200-3137600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:3126200-3138600	Strong transcription	HSMM	muscle
28	chr4:3126200-3140200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:3126800-3164400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:3127000-3138200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr4:3127000-3139200	Strong transcription	Placenta	Placenta
32	chr4:3127000-3144800	Strong transcription	Primary B cells from cord blood	blood
33	chr4:3127000-3164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:3127200-3136200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:3127200-3136200	Strong transcription	Brain Angular Gyrus	brain
36	chr4:3127200-3136400	Strong transcription	Ovary	ovary
37	chr4:3127200-3136600	Strong transcription	Adipose Nuclei	Adipose
38	chr4:3127200-3136600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr4:3127200-3136800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:3127200-3136800	Strong transcription	HepG2	liver
41	chr4:3127200-3137000	Strong transcription	HUVEC	blood vessel
42	chr4:3127200-3137400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr4:3127200-3137600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:3127200-3138000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:3127200-3138200	Strong transcription	Brain Hippocampus Middle	brain
46	chr4:3127200-3138200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:3127200-3140000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:3127200-3140200	Strong transcription	Fetal Brain Female	brain
49	chr4:3127200-3140400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr4:3127200-3140800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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