Variant report

Variant	rs13194986
Chromosome Location	chr6:106966801-106966802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106955204..106959628-chr6:106966256..106969365,4	K562	blood:
2	chr6:106966221..106967730-chr6:107020396..107023333,2	K562	blood:
3	chr6:106915579..106917784-chr6:106966286..106969138,2	K562	blood:
4	chr6:106966393..106967911-chr6:106970523..106972546,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1159148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13202942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13207381	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13218830	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13218960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13219061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13220097	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs17495644	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17495720	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17560979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1841688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1841689	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1870866	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054365	1.00[CHB][hapmap]
rs2297970	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2306099	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2353050	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34550542	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34590393	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35090908	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35452551	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35546863	0.82[ASN][1000 genomes]
rs35790766	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35843244	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55858175	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361614	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72941340	0.82[ASN][1000 genomes]
rs7740989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752730	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs7756087	1.00[CHB][hapmap]
rs9320173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9320174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9320175	0.82[ASN][1000 genomes]
rs9480681	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9480682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486385	0.82[ASN][1000 genomes]
rs9486386	0.82[ASN][1000 genomes]
rs9486387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486388	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-106967800	Weak transcription	Esophagus	oesophagus
2	chr6:106961000-106981000	Weak transcription	Lung	lung
3	chr6:106961000-107001400	Weak transcription	Gastric	stomach
4	chr6:106961200-106968600	Weak transcription	Pancreas	Pancrea
5	chr6:106961400-106967000	Weak transcription	K562	blood
6	chr6:106961600-106967000	Weak transcription	HSMMtube	muscle
7	chr6:106962000-106972800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:106962200-106967000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:106962200-106967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:106962200-106967000	Weak transcription	Fetal Intestine Large	intestine
11	chr6:106962400-106967000	Enhancers	Primary T cells from cord blood	blood
12	chr6:106962600-106967400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:106963000-106967000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:106963000-106967800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:106963200-106967000	Enhancers	Primary B cells from cord blood	blood
16	chr6:106963400-106967000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:106963400-106967000	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:106963400-106967000	Weak transcription	Adipose Nuclei	Adipose
19	chr6:106963400-106967000	Weak transcription	Liver	Liver
20	chr6:106963400-106967000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:106963400-106967000	Weak transcription	Hela-S3	cervix
22	chr6:106963400-106968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:106963400-106972800	Weak transcription	HUVEC	blood vessel
24	chr6:106964400-106968200	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr6:106964600-106967000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:106964600-106967200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:106964600-106972600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:106964800-106967000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:106964800-106967000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:106964800-106967400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:106964800-106967600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:106964800-106967800	Weak transcription	Placenta	Placenta
33	chr6:106964800-106967800	Active TSS	GM12878-XiMat	blood
34	chr6:106964800-106973000	Weak transcription	Stomach Mucosa	stomach
35	chr6:106964800-106991000	Weak transcription	Spleen	Spleen
36	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
37	chr6:106965000-106967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:106965000-106967000	Weak transcription	HepG2	liver
39	chr6:106965000-106967600	Weak transcription	Fetal Intestine Small	intestine
40	chr6:106965400-106967000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:106965400-106968800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr6:106965400-106970200	Flanking Active TSS	Dnd41	blood
43	chr6:106965600-106967000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:106965800-106967000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:106966000-106967000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:106966000-106967200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:106966000-106967400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:106966000-106967400	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:106966200-106967000	Enhancers	HMEC	breast
50	chr6:106966200-106967400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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