Variant report

Variant	rs9478822
Chromosome Location	chr6:150135343-150135344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150129292..150133807-chr6:150135099..150138649,4	K562	blood:
2	chr6:150133046..150135763-chr6:150140364..150142175,2	K562	blood:
3	chr6:150134530..150136218-chr6:150140152..150141893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120265	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28379207	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622537	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478144	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478147	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478148	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478895	1.00[AMR][1000 genomes]
rs9478945	1.00[AMR][1000 genomes]
rs9478948	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479409	1.00[YRI][hapmap]
rs9480114	1.00[YRI][hapmap]
rs9480479	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9505978	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9505988	1.00[YRI][hapmap]
rs9505990	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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 target site	29 gene(s)	inside rSNPs	diseases
3	nsv886763	chr6:150091219-150174507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150072000-150152000	Weak transcription	Aorta	Aorta
2	chr6:150073800-150182400	Weak transcription	Fetal Brain Male	brain
3	chr6:150077400-150142400	Weak transcription	Fetal Heart	heart
4	chr6:150087200-150154000	Weak transcription	Small Intestine	intestine
5	chr6:150088000-150160400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:150094400-150167200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:150098000-150144000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:150105800-150176400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:150112600-150167200	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:150116000-150151800	Weak transcription	NHLF	lung
11	chr6:150118000-150143800	Weak transcription	Hela-S3	cervix
12	chr6:150118800-150151400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:150119000-150140400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:150119000-150144600	Weak transcription	Psoas Muscle	Psoas
15	chr6:150119000-150145600	Weak transcription	Pancreas	Pancrea
16	chr6:150119000-150146600	Weak transcription	Esophagus	oesophagus
17	chr6:150119000-150152600	Weak transcription	A549	lung
18	chr6:150119000-150164000	Weak transcription	Right Ventricle	heart
19	chr6:150119200-150136200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:150119200-150142600	Weak transcription	Gastric	stomach
21	chr6:150119400-150142800	Weak transcription	Brain Angular Gyrus	brain
22	chr6:150119400-150146600	Weak transcription	NHEK	skin
23	chr6:150120000-150164600	Weak transcription	Fetal Kidney	kidney
24	chr6:150120400-150144400	Weak transcription	Spleen	Spleen
25	chr6:150120600-150142800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:150121400-150144200	Weak transcription	Fetal Brain Female	brain
27	chr6:150122200-150135400	Weak transcription	GM12878-XiMat	blood
28	chr6:150122600-150144600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:150123600-150157000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:150123800-150140800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:150123800-150155800	Weak transcription	NH-A	brain
32	chr6:150124000-150146600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:150124600-150135800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:150124600-150142200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:150124800-150136400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:150124800-150139000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:150124800-150141800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:150124800-150142600	Weak transcription	HSMMtube	muscle
39	chr6:150124800-150144200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:150124800-150151600	Weak transcription	Colonic Mucosa	Colon
41	chr6:150125000-150136800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:150125200-150137000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:150125200-150144600	Weak transcription	Ovary	ovary
44	chr6:150126200-150143600	Weak transcription	Osteobl	bone
45	chr6:150127600-150136800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:150127800-150144400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:150128000-150141200	Weak transcription	Fetal Stomach	stomach
48	chr6:150128000-150143200	Weak transcription	Left Ventricle	heart
49	chr6:150128000-150157200	Weak transcription	Lung	lung
50	chr6:150128200-150143200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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