Variant report

Variant	rs28894081
Chromosome Location	chr6:30482476-30482477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
2	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
3	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
4	chr6:30481743..30485761-chr6:30582102..30585444,5	K562	blood:

Variant related genes	Relation type
ENSG00000204576	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204590	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10484552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965214	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28780107	0.91[AMR][1000 genomes]
rs28780108	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28986316	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28986317	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41315800	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
8	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30468800-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:30476600-30485200	Weak transcription	Small Intestine	intestine
3	chr6:30477000-30482800	Weak transcription	Adipose Nuclei	Adipose
4	chr6:30477000-30483000	Weak transcription	Placenta	Placenta
5	chr6:30477000-30483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:30477400-30483000	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:30477400-30483000	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:30477400-30483200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:30477400-30483200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:30477400-30483400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:30477400-30483600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:30477400-30483600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:30477400-30483600	Weak transcription	NHEK	skin
14	chr6:30477400-30483800	Weak transcription	HMEC	breast
15	chr6:30477600-30482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:30477600-30482800	Weak transcription	HUVEC	blood vessel
17	chr6:30477600-30483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:30477600-30483600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr6:30478200-30483400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:30478600-30483600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:30479200-30482600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:30479200-30482600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:30479200-30482800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:30479200-30483000	Weak transcription	Dnd41	blood
25	chr6:30479200-30483600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:30479400-30482800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:30479400-30482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:30479400-30483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:30479600-30482600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:30479600-30482800	Weak transcription	Thymus	Thymus
31	chr6:30479600-30483000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:30479600-30483000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:30479600-30483000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:30479600-30483200	Enhancers	Primary T cells from cord blood	blood
35	chr6:30479600-30483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:30479600-30483600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:30479800-30482600	Weak transcription	Fetal Thymus	thymus
38	chr6:30479800-30482800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:30480200-30482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:30480800-30482600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:30480800-30483200	Weak transcription	Lung	lung
42	chr6:30481000-30483200	Weak transcription	GM12878-XiMat	blood
43	chr6:30481600-30482800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:30481600-30482800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:30481600-30483600	Enhancers	K562	blood
46	chr6:30481800-30482800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:30481800-30483600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:30482000-30482800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:30482000-30482800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:30482000-30482800	Enhancers	Monocytes-CD14+_RO01746	blood

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