Variant report

Variant	rs73389068
Chromosome Location	chr6:27725486-27725487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27670250..27673191-chr6:27723819..27726632,2	K562	blood:
2	chr6:27106999..27109388-chr6:27723167..27725531,2	MCF-7	breast:
3	chr6:27115174..27117346-chr6:27724158..27725816,2	K562	blood:

Variant related genes	Relation type
ENSG00000198339	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11966565	1.00[ASN][1000 genomes]
rs11968469	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56002038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59199903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60339576	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901437	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901712	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906904	1.00[ASN][1000 genomes]
rs6906980	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6908615	1.00[ASN][1000 genomes]
rs6915101	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936952	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938018	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73384331	1.00[ASN][1000 genomes]
rs73389017	1.00[ASN][1000 genomes]
rs73389037	1.00[ASN][1000 genomes]
rs7742752	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468227	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27722600-27728000	Weak transcription	Hela-S3	cervix
2	chr6:27724200-27726200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:27724600-27726000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:27724600-27726000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:27724800-27725600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:27724800-27725600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr6:27724800-27725600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:27724800-27725600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:27724800-27725600	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr6:27724800-27725600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr6:27724800-27725600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr6:27724800-27725600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr6:27724800-27725600	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr6:27724800-27725600	Active TSS	Osteobl	bone
15	chr6:27724800-27725800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr6:27724800-27725800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:27724800-27725800	Active TSS	Duodenum Mucosa	Duodenum
18	chr6:27724800-27725800	Bivalent/Poised TSS	Fetal Stomach	stomach
19	chr6:27724800-27725800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:27724800-27726000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:27724800-27726000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:27724800-27726000	Flanking Active TSS	Fetal Thymus	thymus
23	chr6:27724800-27726200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:27725000-27725600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr6:27725000-27725600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:27725000-27725600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:27725000-27725600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr6:27725000-27725600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
29	chr6:27725000-27725600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr6:27725000-27725600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:27725000-27725600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr6:27725000-27725600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr6:27725000-27725600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:27725000-27725600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:27725000-27725600	Active TSS	Colonic Mucosa	Colon
36	chr6:27725000-27725600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:27725000-27725600	Active TSS	Esophagus	oesophagus
38	chr6:27725000-27725600	Active TSS	Fetal Lung	lung
39	chr6:27725000-27725600	Flanking Active TSS	Placenta	Placenta
40	chr6:27725000-27725800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:27725000-27725800	Active TSS	Primary T cells from cord blood	blood
42	chr6:27725000-27725800	Active TSS	Fetal Intestine Large	intestine
43	chr6:27725000-27725800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr6:27725000-27725800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:27725000-27725800	Active TSS	GM12878-XiMat	blood
46	chr6:27725000-27726000	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:27725000-27726200	Active TSS	Fetal Kidney	kidney
48	chr6:27725000-27726400	Active TSS	Fetal Intestine Small	intestine
49	chr6:27725200-27725600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:27725200-27725600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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