Variant report

Variant	rs9469531
Chromosome Location	chr6:33599495-33599496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33594027..33596927-chr6:33599242..33602574,3	MCF-7	breast:
2	chr6:33587615..33592788-chr6:33598465..33603336,10	MCF-7	breast:
3	chr6:33389729..33391782-chr6:33598906..33600779,2	K562	blood:
4	chr6:33598960..33600739-chr6:33624531..33626836,2	K562	blood:
5	chr6:33599307..33602028-chr6:33636164..33638489,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAK1-2	chr6:33599094-33600790	ENSG00000246981

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3804550	0.83[ASN][1000 genomes]
rs9469533	1.00[ASN][1000 genomes]
rs9469536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9654580	0.90[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	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33590200-33600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:33590400-33600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:33590400-33600400	Weak transcription	Psoas Muscle	Psoas
4	chr6:33591000-33600000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:33591000-33600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:33591000-33600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:33591000-33600600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:33591000-33600600	Weak transcription	Osteobl	bone
9	chr6:33591200-33600800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:33591800-33600200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:33592000-33600200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:33592000-33600400	Genic enhancers	Fetal Intestine Small	intestine
13	chr6:33592200-33600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:33592200-33600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:33592400-33600400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:33592600-33599800	Weak transcription	Pancreas	Pancrea
17	chr6:33592600-33600200	Weak transcription	HepG2	liver
18	chr6:33592600-33600800	Weak transcription	HUVEC	blood vessel
19	chr6:33593000-33600200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:33594400-33600200	Weak transcription	NHLF	lung
21	chr6:33595000-33600400	Enhancers	Stomach Mucosa	stomach
22	chr6:33595200-33600600	Genic enhancers	NHEK	skin
23	chr6:33595600-33599800	Weak transcription	HMEC	breast
24	chr6:33595600-33600200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:33595600-33600200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:33595800-33600200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:33595800-33600200	Weak transcription	Dnd41	blood
28	chr6:33596200-33600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:33596200-33600200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:33596200-33600200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:33596200-33600600	Weak transcription	Primary B cells from cord blood	blood
32	chr6:33596400-33599800	Weak transcription	NHDF-Ad	bronchial
33	chr6:33596400-33600000	Weak transcription	Left Ventricle	heart
34	chr6:33596400-33600000	Weak transcription	K562	blood
35	chr6:33596400-33600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:33596400-33600200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:33596400-33600200	Weak transcription	A549	lung
38	chr6:33596600-33600000	Weak transcription	HSMM	muscle
39	chr6:33596600-33600200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:33596600-33600200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:33596600-33600600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:33596600-33601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:33596800-33600000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:33596800-33600000	Weak transcription	Colonic Mucosa	Colon
45	chr6:33596800-33600000	Weak transcription	Placenta	Placenta
46	chr6:33596800-33600000	Weak transcription	Thymus	Thymus
47	chr6:33596800-33600000	Weak transcription	Spleen	Spleen
48	chr6:33596800-33600000	Weak transcription	GM12878-XiMat	blood
49	chr6:33596800-33600200	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:33597000-33599800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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