Variant report

Variant	rs1056032
Chromosome Location	chr6:28870975-28870976
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28849269..28850881-chr6:28870428..28872541,2	MCF-7	breast:
2	chr6:28870283..28872196-chr6:28873022..28875322,2	MCF-7	breast:
3	chr6:28864301..28866368-chr6:28868615..28871071,3	MCF-7	breast:
4	chr6:28861677..28871493-chr6:28888734..28892704,20	MCF-7	breast:
5	chr6:28805165..28806763-chr6:28869531..28871691,2	K562	blood:
6	chr6:28862622..28869079-chr6:28869294..28875315,10	MCF-7	breast:
7	chr6:28861810..28871966-chr6:28889574..28894668,20	MCF-7	breast:
8	chr6:28869658..28871297-chr6:28885676..28887250,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224157	Chromatin interaction
ENSG00000204713	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1041881	0.82[EUR][1000 genomes]
rs12194037	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17399888	0.83[EUR][1000 genomes]
rs2071786	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2071787	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071788	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28531681	0.86[EUR][1000 genomes]
rs2894065	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3763338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3763339	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713180	0.82[EUR][1000 genomes]
rs4713182	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4713183	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713184	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4713191	0.94[EUR][1000 genomes]
rs4713195	0.85[EUR][1000 genomes]
rs4713196	0.88[EUR][1000 genomes]
rs4947256	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58958115	0.83[EUR][1000 genomes]
rs61751894	0.91[EUR][1000 genomes]
rs6456866	0.80[ASN][1000 genomes]
rs6928948	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6936343	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72853516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72853522	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72853523	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72860085	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72860099	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72862420	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72862423	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73408958	0.80[ASN][1000 genomes]
rs73741203	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs743848	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7745220	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7746064	0.80[ASN][1000 genomes]
rs7761745	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7762289	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs880157	0.80[EUR][1000 genomes]
rs9295782	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9366731	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366733	0.86[EUR][1000 genomes]
rs9380098	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380100	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380102	0.88[EUR][1000 genomes]
rs9380103	0.86[EUR][1000 genomes]
rs968723	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv601212	chr6:28833225-28893927	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv462667	chr6:28834646-28893927	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28865200-28871400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:28865200-28878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:28865600-28871600	Weak transcription	Fetal Heart	heart
4	chr6:28866000-28871600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:28866000-28887000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:28866200-28874200	Weak transcription	Right Atrium	heart
7	chr6:28867000-28889400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:28867600-28889200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:28867600-28889400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:28867600-28889600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:28867800-28873200	Strong transcription	A549	lung
12	chr6:28867800-28874200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:28867800-28874600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:28867800-28874600	Strong transcription	NH-A	brain
15	chr6:28867800-28874600	Strong transcription	Osteobl	bone
16	chr6:28867800-28878800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:28867800-28880000	Strong transcription	Primary T cells from cord blood	blood
18	chr6:28867800-28881600	Strong transcription	HSMM	muscle
19	chr6:28867800-28883200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr6:28867800-28885400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:28867800-28888200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:28867800-28888400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:28867800-28888400	Strong transcription	Fetal Thymus	thymus
24	chr6:28867800-28889200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:28867800-28889200	Strong transcription	HMEC	breast
26	chr6:28867800-28889400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:28867800-28889400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:28867800-28889600	Strong transcription	Fetal Lung	lung
29	chr6:28868000-28878400	Strong transcription	Placenta	Placenta
30	chr6:28868000-28889200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:28868200-28880200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr6:28868200-28887200	Strong transcription	HUVEC	blood vessel
33	chr6:28868200-28889600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:28868200-28889800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:28868400-28872400	Strong transcription	Aorta	Aorta
36	chr6:28868400-28873400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:28868400-28874800	Strong transcription	Pancreas	Pancrea
38	chr6:28868400-28878400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:28868400-28878400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:28868400-28878600	Strong transcription	NHEK	skin
41	chr6:28868400-28879600	Strong transcription	Brain Cingulate Gyrus	brain
42	chr6:28868400-28879800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:28868400-28879800	Strong transcription	GM12878-XiMat	blood
44	chr6:28868400-28880200	Strong transcription	Thymus	Thymus
45	chr6:28868400-28880600	Strong transcription	Brain Germinal Matrix	brain
46	chr6:28868400-28881000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:28868400-28881000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:28868400-28881600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr6:28868400-28882600	Strong transcription	Liver	Liver
50	chr6:28868400-28884400	Strong transcription	Dnd41	blood

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