Variant report

Variant	rs4947256
Chromosome Location	chr6:28921940-28921941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28921551..28923708-chr6:28958891..28962206,3	K562	blood:
2	chr6:28910397..28912982-chr6:28920133..28921972,2	MCF-7	breast:
3	chr6:28807797..28809537-chr6:28919515..28922301,2	K562	blood:
4	chr6:28863289..28866205-chr6:28921133..28924025,2	K562	blood:
5	chr6:28863727..28866430-chr6:28920617..28922633,3	K562	blood:
6	chr6:28920218..28924369-chr6:28968578..28972504,4	K562	blood:
7	chr6:28920183..28922796-chr6:28965172..28967810,2	K562	blood:
8	chr6:28857766..28860290-chr6:28920868..28922677,2	K562	blood:
9	chr22:29197206..29200027-chr6:28920726..28923051,2	MCF-7	breast:
10	chr6:28907315..28909915-chr6:28920300..28923261,2	MCF-7	breast:
11	chr6:28829833..28833248-chr6:28918976..28922184,3	K562	blood:
12	chr6:28889277..28892149-chr6:28920165..28923545,3	K562	blood:
13	chr6:28918185..28920512-chr6:28921430..28924835,3	MCF-7	breast:
14	chr6:28916972..28925607-chr6:28947207..28951909,14	K562	blood:
15	chr6:28905933..28927444-chr6:28943937..28954526,53	K562	blood:
16	chr6:28676149..28677937-chr6:28921476..28924088,2	K562	blood:
17	chr6:28806197..28808344-chr6:28919521..28922266,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225173	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000227214	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000224157	Chromatin interaction
ENSG00000204709	Chromatin interaction
ENSG00000263426	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1041881	0.80[EUR][1000 genomes]
rs1056032	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12194037	0.92[EUR][1000 genomes]
rs17399888	0.85[EUR][1000 genomes]
rs2071786	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071787	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2071788	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28531681	0.88[EUR][1000 genomes]
rs2894065	0.89[EUR][1000 genomes]
rs3763338	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3763339	0.92[EUR][1000 genomes]
rs4713180	0.80[EUR][1000 genomes]
rs4713182	0.89[EUR][1000 genomes]
rs4713183	0.92[EUR][1000 genomes]
rs4713184	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4713191	0.95[EUR][1000 genomes]
rs4713195	0.86[EUR][1000 genomes]
rs4713196	0.89[EUR][1000 genomes]
rs58958115	0.81[EUR][1000 genomes]
rs61751894	0.92[EUR][1000 genomes]
rs6928948	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6936343	0.86[EUR][1000 genomes]
rs72853516	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72853522	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72853523	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72860085	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72860099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72862420	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72862423	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73741203	0.89[EUR][1000 genomes]
rs743848	0.86[EUR][1000 genomes]
rs7745220	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7761745	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7762289	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9295782	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9366731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9366733	0.88[EUR][1000 genomes]
rs9380098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380100	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380102	0.89[EUR][1000 genomes]
rs9380103	0.88[EUR][1000 genomes]
rs968723	0.95[EUR][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	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28920200-28922200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:28920600-28922200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:28920600-28922400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:28920800-28922200	Active TSS	GM12878-XiMat	blood
5	chr6:28920800-28922400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:28920800-28922400	Active TSS	A549	lung
7	chr6:28920800-28922400	Active TSS	NHDF-Ad	bronchial
8	chr6:28921000-28922400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:28921000-28922400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:28921000-28922400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:28921000-28922400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:28921000-28922800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:28921200-28922000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:28921200-28922000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:28921200-28922000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
16	chr6:28921200-28922000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:28921200-28922000	Active TSS	Brain Angular Gyrus	brain
18	chr6:28921200-28922000	Active TSS	Fetal Muscle Trunk	muscle
19	chr6:28921200-28922000	Flanking Active TSS	HUVEC	blood vessel
20	chr6:28921200-28922200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:28921200-28922200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:28921200-28922200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:28921200-28922200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:28921200-28922200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:28921200-28922200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr6:28921200-28922200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr6:28921200-28922200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr6:28921200-28922200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:28921200-28922200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:28921200-28922200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:28921200-28922200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:28921200-28922200	Active TSS	Brain Hippocampus Middle	brain
33	chr6:28921200-28922200	Active TSS	Esophagus	oesophagus
34	chr6:28921200-28922200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr6:28921200-28922200	Active TSS	Right Atrium	heart
36	chr6:28921200-28922200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
37	chr6:28921200-28922200	Bivalent/Poised TSS	HepG2	liver
38	chr6:28921200-28922200	Active TSS	HSMM	muscle
39	chr6:28921200-28922400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:28921200-28922400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:28921200-28922400	Active TSS	Brain Anterior Caudate	brain
42	chr6:28921200-28922400	Bivalent/Poised TSS	Fetal Brain Male	brain
43	chr6:28921200-28922400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr6:28921200-28922400	Active TSS	Right Ventricle	heart
45	chr6:28921200-28922600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:28921200-28922600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:28921200-28922800	Active TSS	Colonic Mucosa	Colon
48	chr6:28921400-28922000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr6:28921400-28922000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:28921400-28922000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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