Variant report

Variant	rs9498389
Chromosome Location	chr6:149942124-149942125
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149866333..149869033-chr6:149939883..149942765,2	K562	blood:

Variant related genes	Relation type
ENSG00000131013	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17087775	1.00[AMR][1000 genomes]
rs28692896	1.00[AMR][1000 genomes]
rs6911686	1.00[AMR][1000 genomes]
rs6911796	1.00[AMR][1000 genomes]
rs73781228	1.00[AMR][1000 genomes]
rs9478410	1.00[AMR][1000 genomes]
rs9479096	1.00[AMR][1000 genomes]
rs9479409	1.00[AMR][1000 genomes]
rs9479583	1.00[AMR][1000 genomes]
rs9479588	1.00[AMR][1000 genomes]
rs9479882	1.00[AMR][1000 genomes]
rs9480114	1.00[AMR][1000 genomes]
rs9485398	1.00[AMR][1000 genomes]
rs9498377	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9498386	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9498388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9505828	1.00[AMR][1000 genomes]
rs9505976	1.00[AMR][1000 genomes]
rs9505988	1.00[AMR][1000 genomes]
rs9505990	1.00[AMR][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	nsv289	chr6:149864898-149998818	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv5534	chr6:149864898-149998818	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1794633	chr6:149903597-149944908	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149915600-149968400	Weak transcription	Pancreas	Pancrea
2	chr6:149915600-149969200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:149915800-149969200	Weak transcription	Gastric	stomach
4	chr6:149916000-149943000	Weak transcription	Colonic Mucosa	Colon
5	chr6:149916400-149950200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:149918400-149950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:149918800-149967600	Weak transcription	HUVEC	blood vessel
8	chr6:149918800-149967600	Weak transcription	NHLF	lung
9	chr6:149919000-149943000	Weak transcription	NHDF-Ad	bronchial
10	chr6:149919400-149949000	Weak transcription	Osteobl	bone
11	chr6:149921000-149944000	Weak transcription	HSMMtube	muscle
12	chr6:149923000-149943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:149923000-149952200	Weak transcription	NH-A	brain
14	chr6:149923200-149942800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:149923400-149947600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:149924800-149967400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:149924800-149968000	Weak transcription	Fetal Kidney	kidney
18	chr6:149925200-149943400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:149925200-149967000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:149930600-149944000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:149935000-149967000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:149935200-149959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:149935200-149966200	Weak transcription	Hela-S3	cervix
24	chr6:149935200-149967800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:149935200-149968000	Weak transcription	Brain Angular Gyrus	brain
26	chr6:149935200-149969000	Weak transcription	Small Intestine	intestine
27	chr6:149935400-149944000	Weak transcription	Spleen	Spleen
28	chr6:149935400-149948200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:149935400-149948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:149935400-149948800	Weak transcription	Psoas Muscle	Psoas
31	chr6:149935400-149958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:149935400-149968000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:149935600-149948400	Weak transcription	Brain Anterior Caudate	brain
34	chr6:149935600-149968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:149935600-149968400	Weak transcription	Esophagus	oesophagus
36	chr6:149935800-149942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:149935800-149943400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:149935800-149944000	Weak transcription	HepG2	liver
39	chr6:149935800-149968600	Weak transcription	Aorta	Aorta
40	chr6:149936000-149948800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:149936000-149967000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:149936000-149967200	Weak transcription	HMEC	breast
43	chr6:149936000-149968000	Weak transcription	Right Ventricle	heart
44	chr6:149936200-149943000	Weak transcription	NHEK	skin
45	chr6:149936200-149948800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:149936600-149942800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:149936800-149969000	Weak transcription	Lung	lung
48	chr6:149937200-149942600	Weak transcription	Thymus	Thymus
49	chr6:149937400-149943800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:149937400-149944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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