Variant report

Variant	rs28399157
Chromosome Location	chr6:27635706-27635707
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27635575..27638134-chr6:27861679..27863418,2	K562	blood:
2	chr6:27635615..27637908-chr6:27648456..27651146,2	K562	blood:
3	chr6:27630640..27633074-chr6:27634485..27635995,2	K562	blood:
4	chr6:27635541..27637440-chr6:27775758..27778224,2	K562	blood:
5	chr6:27634865..27637483-chr6:27858209..27861197,3	K562	blood:
6	chr6:27632657..27637879-chr6:27644957..27648332,5	K562	blood:
7	chr6:27570023..27571795-chr6:27634776..27636540,2	K562	blood:
8	chr6:27154773..27157322-chr6:27634142..27636330,2	MCF-7	breast:
9	chr6:27155324..27157508-chr6:27634451..27636223,2	K562	blood:
10	chr6:27635682..27638550-chr6:27638732..27640689,2	K562	blood:
11	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
12	chr6:27635070..27638218-chr6:27719785..27722837,4	K562	blood:
13	chr6:27515362..27517557-chr6:27635548..27637860,2	K562	blood:
14	chr6:27635538..27638265-chr6:27781232..27783499,2	MCF-7	breast:
15	chr6:27634605..27637879-chr6:27644998..27648332,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233224	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000203813	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12333239	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16867923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62623458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9461391	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9468176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9468194	1.00[AMR][1000 genomes]
rs9468235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27634600-27638400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27634600-27640800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:27634800-27635800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:27634800-27635800	Flanking Active TSS	GM12878-XiMat	blood
5	chr6:27634800-27636200	Flanking Active TSS	NHEK	skin
6	chr6:27634800-27637600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:27634800-27638400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr6:27634800-27638400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:27634800-27638800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:27634800-27639400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:27634800-27640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:27635000-27635800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:27635000-27636800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:27635000-27637400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:27635200-27635800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:27635200-27635800	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr6:27635200-27635800	Flanking Active TSS	HMEC	breast
19	chr6:27635200-27636000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:27635200-27636200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:27635200-27636200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
22	chr6:27635200-27636400	Bivalent Enhancer	Fetal Stomach	stomach
23	chr6:27635200-27637200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:27635200-27637600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr6:27635200-27639200	Active TSS	A549	lung
26	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:27635400-27635800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:27635400-27635800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:27635400-27635800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:27635400-27635800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr6:27635400-27636000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:27635400-27636000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
33	chr6:27635400-27636000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr6:27635400-27636000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr6:27635400-27636000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:27635400-27636000	Flanking Active TSS	Ovary	ovary
37	chr6:27635400-27636000	Flanking Bivalent TSS/Enh	Osteobl	bone
38	chr6:27635400-27636200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:27635400-27636200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr6:27635400-27636200	Bivalent Enhancer	Fetal Heart	heart
41	chr6:27635400-27636200	Bivalent/Poised TSS	NHDF-Ad	bronchial
42	chr6:27635400-27636400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr6:27635400-27636600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr6:27635400-27636800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:27635400-27636800	Active TSS	NH-A	brain
46	chr6:27635400-27637200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:27635400-27637600	Bivalent/Poised TSS	HepG2	liver
48	chr6:27635400-27637800	Active TSS	NHLF	lung
49	chr6:27635400-27638000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:27635400-27638000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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