Variant report

Variant	rs783416
Chromosome Location	chr6:106964765-106964766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106956104..106960979-chr6:106961358..106966072,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112297	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1111830	0.89[ASN][1000 genomes]
rs1676025	0.83[EUR][1000 genomes]
rs1770723	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1770733	0.80[AMR][1000 genomes]
rs1799693	0.83[EUR][1000 genomes]
rs3747789	0.84[AMR][1000 genomes]
rs7771502	0.81[AMR][1000 genomes]
rs783395	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs783396	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs783401	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs783406	0.85[ASN][1000 genomes]
rs783414	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783418	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-106966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:106961000-106967800	Weak transcription	Esophagus	oesophagus
3	chr6:106961000-106981000	Weak transcription	Lung	lung
4	chr6:106961000-107001400	Weak transcription	Gastric	stomach
5	chr6:106961200-106968600	Weak transcription	Pancreas	Pancrea
6	chr6:106961400-106967000	Weak transcription	K562	blood
7	chr6:106961600-106967000	Weak transcription	HSMMtube	muscle
8	chr6:106962000-106966600	Weak transcription	Osteobl	bone
9	chr6:106962000-106972800	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:106962200-106966600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:106962200-106966800	Weak transcription	HSMM	muscle
12	chr6:106962200-106967000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:106962200-106967000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:106962200-106967000	Weak transcription	Fetal Intestine Large	intestine
15	chr6:106962400-106964800	Enhancers	Stomach Mucosa	stomach
16	chr6:106962400-106966800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:106962400-106967000	Enhancers	Primary T cells from cord blood	blood
18	chr6:106962600-106966600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:106962600-106966800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:106962600-106967400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:106962800-106966800	Weak transcription	NHLF	lung
22	chr6:106963000-106965400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:106963000-106967000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:106963000-106967800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:106963200-106965600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:106963200-106967000	Enhancers	Primary B cells from cord blood	blood
27	chr6:106963400-106964800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:106963400-106964800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:106963400-106965600	Weak transcription	HMEC	breast
30	chr6:106963400-106966400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:106963400-106967000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:106963400-106967000	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:106963400-106967000	Weak transcription	Adipose Nuclei	Adipose
34	chr6:106963400-106967000	Weak transcription	Liver	Liver
35	chr6:106963400-106967000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:106963400-106967000	Weak transcription	Hela-S3	cervix
37	chr6:106963400-106968600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:106963400-106972800	Weak transcription	HUVEC	blood vessel
39	chr6:106963600-106965000	Enhancers	NHEK	skin
40	chr6:106963600-106965400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr6:106963600-106966400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:106963600-106966800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:106963600-106966800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:106963800-106964800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:106963800-106964800	Genic enhancers	Fetal Intestine Small	intestine
46	chr6:106963800-106964800	Enhancers	Placenta	Placenta
47	chr6:106963800-106964800	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:106963800-106965000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:106963800-106965000	Enhancers	HepG2	liver
50	chr6:106963800-106965200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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