Variant report

Variant	rs16927307
Chromosome Location	chr8:48436044-48436045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:48435927-48436556	NB4	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48435895..48437509-chr8:48455733..48457442,2	MCF-7	breast:
2	chr8:48435225..48441849-chr8:48646333..48652657,17	MCF-7	breast:
3	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
4	chr8:48435448..48437603-chr8:48438806..48441568,2	K562	blood:
5	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
6	chr8:48425858..48428805-chr8:48433583..48436429,2	MCF-7	breast:
7	chr8:48431010..48432979-chr8:48435160..48436961,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269924	TF binding region
ENSG00000269924	Chromatin interaction
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10107926	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10481296	0.91[EUR][1000 genomes]
rs12216833	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs1552667	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16925570	0.95[YRI][hapmap]
rs55841214	0.96[EUR][1000 genomes]
rs55918561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56107210	0.98[EUR][1000 genomes]
rs56391539	0.96[EUR][1000 genomes]
rs58828084	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6472453	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs6989958	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992107	0.96[YRI][hapmap]
rs6992139	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7001539	0.96[YRI][hapmap]
rs7011833	0.87[EUR][1000 genomes]
rs72644585	0.88[EUR][1000 genomes]
rs72644587	0.83[EUR][1000 genomes]
rs72644597	0.96[EUR][1000 genomes]
rs72644602	0.94[EUR][1000 genomes]
rs72646317	0.88[EUR][1000 genomes]
rs72646321	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646324	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646330	0.89[EUR][1000 genomes]
rs72646348	1.00[EUR][1000 genomes]
rs72646350	1.00[EUR][1000 genomes]
rs7822371	0.91[EUR][1000 genomes]
rs7824929	1.00[YRI][hapmap]
rs7829543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834901	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7839055	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9643810	0.84[EUR][1000 genomes]
rs9650144	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48423800-48436800	Weak transcription	Thymus	Thymus
2	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:48426800-48436400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:48427800-48437000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:48428200-48437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:48428200-48439800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:48432600-48436800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:48432600-48437000	Enhancers	Adipose Nuclei	Adipose
9	chr8:48432600-48439800	Enhancers	Fetal Lung	lung
10	chr8:48432800-48437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:48433400-48436800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:48433400-48437200	Enhancers	Left Ventricle	heart
13	chr8:48433800-48436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:48434000-48455400	Weak transcription	Primary T cells from cord blood	blood
15	chr8:48434200-48439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:48434200-48440000	Enhancers	Fetal Muscle Leg	muscle
17	chr8:48434400-48437000	Enhancers	Right Atrium	heart
18	chr8:48434400-48437600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:48434400-48439800	Enhancers	Placenta	Placenta
20	chr8:48434400-48439800	Enhancers	Stomach Mucosa	stomach
21	chr8:48434400-48440200	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:48434400-48444400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:48434600-48437000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr8:48434600-48437200	Enhancers	Lung	lung
25	chr8:48434600-48440000	Enhancers	Brain Anterior Caudate	brain
26	chr8:48434600-48440000	Enhancers	Brain Hippocampus Middle	brain
27	chr8:48434600-48440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:48434800-48436400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:48434800-48436400	Enhancers	Esophagus	oesophagus
30	chr8:48434800-48436800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:48434800-48436800	Enhancers	A549	lung
32	chr8:48434800-48436800	Enhancers	HepG2	liver
33	chr8:48434800-48437000	Enhancers	Colonic Mucosa	Colon
34	chr8:48434800-48437000	Enhancers	NHLF	lung
35	chr8:48434800-48437200	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:48434800-48437200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:48434800-48437200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:48434800-48437200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:48434800-48438800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:48434800-48438800	Enhancers	NHDF-Ad	bronchial
41	chr8:48434800-48439200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:48434800-48439200	Enhancers	Hela-S3	cervix
43	chr8:48434800-48439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:48434800-48439800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:48434800-48440000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:48434800-48440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:48434800-48440200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:48434800-48440400	Enhancers	Brain Cingulate Gyrus	brain
50	chr8:48434800-48440400	Enhancers	Fetal Intestine Large	intestine

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