Variant report

Variant	rs363070
Chromosome Location	chr4:3131573-3131574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3111872..3117206-chr4:3129314..3133133,7	MCF-7	breast:
2	chr4:3123103..3125044-chr4:3130589..3133278,2	MCF-7	breast:
3	chr4:3108221..3121308-chr4:3131274..3142057,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10006373	1.00[ASN][1000 genomes]
rs10012793	1.00[ASN][1000 genomes]
rs1065745	1.00[ASW][hapmap];0.90[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs16843824	1.00[MEX][hapmap]
rs2005787	1.00[ASN][1000 genomes]
rs28834148	1.00[ASN][1000 genomes]
rs3025849	0.93[AFR][1000 genomes]
rs3025851	0.90[AFR][1000 genomes]
rs363065	0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs363067	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs363068	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs363071	0.90[AFR][1000 genomes]
rs363074	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs363078	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs363082	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363084	1.00[ASW][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs363087	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs363089	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs363091	1.00[CHD][hapmap]
rs363093	1.00[ASN][1000 genomes]
rs363097	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs363098	1.00[ASN][1000 genomes]
rs363100	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs363103	0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs363105	0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs363141	1.00[ASN][1000 genomes]
rs56794194	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57196404	0.90[AFR][1000 genomes]
rs59147561	1.00[ASN][1000 genomes]
rs61460614	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61583241	0.97[AFR][1000 genomes]
rs61792464	1.00[ASN][1000 genomes]
rs61792500	0.94[AFR][1000 genomes]
rs61792501	0.94[AFR][1000 genomes]
rs61792502	0.97[AFR][1000 genomes]
rs61792509	0.97[AFR][1000 genomes]
rs61792510	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61792512	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792515	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792531	0.90[AFR][1000 genomes]
rs61792532	0.90[AFR][1000 genomes]
rs61792533	0.90[AFR][1000 genomes]
rs6446724	1.00[ASN][1000 genomes]
rs6446725	1.00[ASN][1000 genomes]
rs6828615	1.00[ASN][1000 genomes]
rs6828882	1.00[ASN][1000 genomes]
rs6829069	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[EUR][1000 genomes]
rs6834455	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6835567	1.00[ASN][1000 genomes]
rs6839274	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6843895	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs73073018	0.90[AFR][1000 genomes]
rs7663133	1.00[ASN][1000 genomes]
rs7665816	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7667354	1.00[ASN][1000 genomes]
rs7682324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688390	1.00[ASN][1000 genomes]
rs9993542	1.00[CHD][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	chr4:3118400-3133600	Weak transcription	Hela-S3	cervix
19	chr4:3118800-3132200	Weak transcription	K562	blood
20	chr4:3119000-3133000	Weak transcription	HMEC	breast
21	chr4:3124000-3135400	Weak transcription	Stomach Mucosa	stomach
22	chr4:3124200-3132600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:3124200-3138400	Strong transcription	NH-A	brain
24	chr4:3124800-3138000	Strong transcription	Primary T cells from cord blood	blood
25	chr4:3125200-3163000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:3125200-3163200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:3125400-3132600	Weak transcription	Fetal Heart	heart
28	chr4:3125400-3145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:3126000-3137000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:3126000-3137800	Strong transcription	Thymus	Thymus
31	chr4:3126000-3144000	Strong transcription	Left Ventricle	heart
32	chr4:3126200-3137600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:3126200-3138600	Strong transcription	HSMM	muscle
34	chr4:3126200-3140200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:3126600-3134800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr4:3126800-3164400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:3127000-3138200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr4:3127000-3139200	Strong transcription	Placenta	Placenta
39	chr4:3127000-3144800	Strong transcription	Primary B cells from cord blood	blood
40	chr4:3127000-3164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:3127200-3134800	Strong transcription	Aorta	Aorta
42	chr4:3127200-3134800	Strong transcription	Brain Substantia Nigra	brain
43	chr4:3127200-3135000	Strong transcription	HSMMtube	muscle
44	chr4:3127200-3136200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:3127200-3136200	Strong transcription	Brain Angular Gyrus	brain
46	chr4:3127200-3136400	Strong transcription	Ovary	ovary
47	chr4:3127200-3136600	Strong transcription	Adipose Nuclei	Adipose
48	chr4:3127200-3136600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr4:3127200-3136800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:3127200-3136800	Strong transcription	HepG2	liver

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