Variant report

Variant	rs9478791
Chromosome Location	chr6:151042271-151042272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12664155	1.00[CEU][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes]
rs17080212	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17080238	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes]
rs1968998	0.88[AMR][1000 genomes]
rs1968999	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2279628	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3734411	1.00[CEU][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes]
rs4869689	0.85[CEU][hapmap];0.91[AMR][1000 genomes]
rs4869693	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4869932	0.85[CEU][hapmap]
rs4869935	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs72570328	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72570331	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72570332	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72570334	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72570349	0.82[AMR][1000 genomes]
rs72570350	0.84[AMR][1000 genomes]
rs7748886	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7772795	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9478787	0.82[AMR][1000 genomes]
rs9478790	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9480548	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9480550	1.00[CEU][hapmap]
rs9480551	1.00[CEU][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019919	chr6:151028969-151161789	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv538474	chr6:151028969-151161789	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151026800-151043600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:151033600-151050200	Weak transcription	Lung	lung
3	chr6:151035000-151066400	Weak transcription	Right Ventricle	heart
4	chr6:151039000-151058800	Weak transcription	Gastric	stomach
5	chr6:151039600-151043800	Weak transcription	Thymus	Thymus
6	chr6:151040000-151055800	Weak transcription	HUVEC	blood vessel
7	chr6:151040200-151042800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:151040200-151042800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:151040200-151042800	Enhancers	Fetal Thymus	thymus
10	chr6:151040200-151043000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:151040400-151042800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:151040600-151042400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:151040600-151042600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:151040600-151042600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:151040800-151042800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:151041000-151043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:151041000-151044200	Weak transcription	Fetal Stomach	stomach
18	chr6:151041200-151042800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:151041200-151042800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:151041200-151044800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:151041400-151043000	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:151041400-151043000	Enhancers	Fetal Kidney	kidney
23	chr6:151041600-151042600	Enhancers	Fetal Muscle Leg	muscle
24	chr6:151041600-151042800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:151041800-151042600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:151041800-151042800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:151041800-151042800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:151041800-151042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:151041800-151042800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:151041800-151042800	Enhancers	Stomach Mucosa	stomach
31	chr6:151041800-151042800	Flanking Active TSS	HMEC	breast
32	chr6:151041800-151042800	Flanking Active TSS	NH-A	brain
33	chr6:151041800-151043000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:151041800-151043000	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:151041800-151043000	Enhancers	NHEK	skin
36	chr6:151041800-151043800	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:151042000-151042400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:151042000-151042400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr6:151042000-151042400	Enhancers	Primary T cells from cord blood	blood
40	chr6:151042000-151042400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr6:151042000-151042400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr6:151042000-151042400	Flanking Active TSS	Fetal Brain Female	brain
43	chr6:151042000-151042400	Enhancers	Fetal Intestine Small	intestine
44	chr6:151042000-151042400	Flanking Active TSS	Fetal Lung	lung
45	chr6:151042000-151042400	Enhancers	Placenta	Placenta
46	chr6:151042000-151042400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:151042000-151042400	Enhancers	Right Atrium	heart
48	chr6:151042000-151042400	Enhancers	Small Intestine	intestine
49	chr6:151042000-151042600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr6:151042000-151042800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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