Variant report

Variant	rs9516198
Chromosome Location	chr13:93897039-93897040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93892327..93893891-chr13:93894566..93897103,2	K562	blood:
2	chr13:93896826..93900351-chr13:93900549..93903054,4	K562	blood:
3	chr13:93892140..93893891-chr13:93894566..93897853,3	K562	blood:
4	chr13:93894789..93899611-chr13:93899761..93903867,5	K562	blood:
5	chr13:93877956..93885053-chr13:93889924..93899645,13	MCF-7	breast:
6	chr13:93895733..93898650-chr13:93898750..93900503,2	K562	blood:

Variant related genes	Relation type
ENSG00000183098	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1116259	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1116260	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11839667	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11840691	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11843447	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12427542	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1887707	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1887708	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1887709	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2031844	0.88[EUR][1000 genomes]
rs369570	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs4773722	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7326297	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7334414	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7992869	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7994461	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7999192	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7999514	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7999706	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9516199	0.84[CEU][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs9523967	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9523968	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9523969	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9523970	0.93[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9523971	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9523972	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9523976	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9523978	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9523982	0.83[CEU][hapmap];0.94[EUR][1000 genomes]
rs9523983	0.91[EUR][1000 genomes]
rs9556274	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9561283	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9561289	1.00[CEU][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9561293	0.94[EUR][1000 genomes]
rs9561294	0.84[CEU][hapmap];0.94[EUR][1000 genomes]

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	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93891600-93901200	Weak transcription	Fetal Intestine Small	intestine
2	chr13:93895600-93898600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:93895800-93897600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:93895800-93898600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:93895800-93898600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:93896000-93898600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:93896000-93898600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:93896200-93897200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:93896200-93897200	Active TSS	Brain Anterior Caudate	brain
10	chr13:93896200-93897400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr13:93896200-93897400	Active TSS	Colon Smooth Muscle	Colon
12	chr13:93896200-93897800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:93896200-93898000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:93896200-93898000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:93896200-93898600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:93896200-93898600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:93896200-93898600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:93896400-93897200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:93896400-93897200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:93896400-93897200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr13:93896400-93897200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr13:93896400-93897200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr13:93896400-93897200	Active TSS	A549	lung
24	chr13:93896400-93897200	Flanking Active TSS	NHEK	skin
25	chr13:93896400-93897400	Active TSS	Aorta	Aorta
26	chr13:93896400-93897400	Active TSS	Duodenum Mucosa	Duodenum
27	chr13:93896400-93897400	Active TSS	Ovary	ovary
28	chr13:93896400-93897400	Active TSS	Hela-S3	cervix
29	chr13:93896400-93897600	Active TSS	NHDF-Ad	bronchial
30	chr13:93896400-93897800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr13:93896400-93897800	Flanking Active TSS	Osteobl	bone
32	chr13:93896600-93897200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:93896600-93897200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:93896600-93897200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr13:93896600-93897200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:93896600-93897200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr13:93896600-93897200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr13:93896600-93897400	Flanking Active TSS	Liver	Liver
39	chr13:93896600-93897400	Active TSS	Brain Cingulate Gyrus	brain
40	chr13:93896600-93897400	Flanking Active TSS	NH-A	brain
41	chr13:93896600-93898600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr13:93896800-93897200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:93896800-93897200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:93896800-93897200	Active TSS	Right Atrium	heart
45	chr13:93896800-93897400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:93896800-93897400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:93896800-93897400	Active TSS	NHLF	lung
48	chr13:93896800-93897800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr13:93896800-93900800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr13:93897000-93897200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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