Variant report

Variant	rs4947284
Chromosome Location	chr6:30418662-30418663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30320856..30322716-chr6:30417806..30419569,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs4959049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959051	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57548202	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57625144	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58101292	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58314420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58504477	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60118758	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60162146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60937545	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61152365	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72502523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72502524	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72502525	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427041	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30417200-30421600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr6:30417600-30419600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:30417600-30419800	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:30417800-30418800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr6:30417800-30418800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:30417800-30418800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:30418000-30418800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr6:30418000-30418800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:30418000-30419200	Bivalent Enhancer	GM12878-XiMat	blood
10	chr6:30418200-30418800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:30418200-30418800	Enhancers	Dnd41	blood
12	chr6:30418200-30418800	Bivalent Enhancer	HSMM	muscle
13	chr6:30418200-30419000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr6:30418200-30419400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:30418200-30419400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr6:30418200-30419600	Bivalent Enhancer	Placenta	Placenta
17	chr6:30418400-30418800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:30418400-30418800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:30418400-30418800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:30418400-30418800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:30418400-30418800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr6:30418400-30418800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr6:30418400-30419000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr6:30418400-30419000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
25	chr6:30418400-30419000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr6:30418400-30419000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
27	chr6:30418400-30419000	Flanking Bivalent TSS/Enh	HSMMtube	muscle
28	chr6:30418400-30419000	Flanking Bivalent TSS/Enh	NHEK	skin
29	chr6:30418400-30419200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:30418400-30419200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr6:30418400-30419200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:30418400-30419200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr6:30418400-30419200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr6:30418400-30419200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:30418400-30419200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:30418400-30419200	Enhancers	Right Ventricle	heart
37	chr6:30418400-30419400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:30418400-30419400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:30418400-30419400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:30418400-30419400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
41	chr6:30418400-30419400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
42	chr6:30418400-30419600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr6:30418400-30419600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr6:30418400-30419600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr6:30418400-30419600	Bivalent Enhancer	Liver	Liver
46	chr6:30418400-30419600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr6:30418400-30419800	Bivalent Enhancer	Esophagus	oesophagus
48	chr6:30418400-30419800	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr6:30418400-30419800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr6:30418400-30421600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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