Variant report

Variant	rs9458823
Chromosome Location	chr6:163842358-163842359
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163840864..163843794-chr6:163863418..163865440,3	K562	blood:
2	chr6:163841678..163843266-chr6:163843720..163845491,2	K562	blood:
3	chr6:163838995..163843341-chr6:163850269..163853237,5	K562	blood:
4	chr6:163841069..163843300-chr6:163990563..163993244,2	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10080505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523713	0.92[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12523978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17176494	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4112651	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60332904	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6455905	0.92[CEU][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6901592	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6902608	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906081	0.90[EUR][1000 genomes]
rs6906275	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6906725	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6910323	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6914093	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6917030	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6928869	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6936927	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6937072	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6937097	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013516	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73013528	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73013553	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73015316	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7748261	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7759606	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761090	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7770852	0.83[ASW][hapmap];0.92[CEU][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9456868	0.91[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458821	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9458825	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458828	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458830	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458837	0.92[CEU][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458849	0.92[CEU][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458857	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9458859	0.92[CEU][hapmap];0.82[GIH][hapmap];0.82[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs9654569	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
3	chr6:163833600-163842400	Active TSS	Psoas Muscle	Psoas
4	chr6:163833600-163843000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:163836200-163843400	Active TSS	Brain Angular Gyrus	brain
6	chr6:163837000-163843400	Active TSS	Right Atrium	heart
7	chr6:163837400-163857200	Weak transcription	Spleen	Spleen
8	chr6:163837800-163843400	Weak transcription	Gastric	stomach
9	chr6:163837800-163851000	Weak transcription	Small Intestine	intestine
10	chr6:163838000-163843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:163838000-163843400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:163838000-163843600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:163838000-163843600	Weak transcription	Esophagus	oesophagus
14	chr6:163838000-163843800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:163838000-163847600	Weak transcription	Pancreas	Pancrea
16	chr6:163838000-163851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:163838000-163860600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:163838400-163842400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:163838400-163842600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:163838400-163845000	Weak transcription	Placenta	Placenta
21	chr6:163838800-163845200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:163839000-163842400	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:163839200-163842400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:163839200-163843200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:163839200-163845400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:163839600-163846200	Weak transcription	Thymus	Thymus
27	chr6:163839800-163842400	Enhancers	Fetal Lung	lung
28	chr6:163839800-163851600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:163840000-163842600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:163840000-163845000	Enhancers	Colon Smooth Muscle	Colon
31	chr6:163840200-163842600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:163840200-163842600	Enhancers	Fetal Kidney	kidney
33	chr6:163840200-163844800	Weak transcription	Hela-S3	cervix
34	chr6:163840200-163844800	Enhancers	HepG2	liver
35	chr6:163840800-163842600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:163840800-163842600	Active TSS	Fetal Brain Female	brain
37	chr6:163840800-163842600	Flanking Active TSS	Fetal Heart	heart
38	chr6:163840800-163843000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:163840800-163865000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr6:163840800-163881400	Weak transcription	Fetal Stomach	stomach
41	chr6:163841000-163842600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr6:163841000-163847600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:163841200-163842400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:163841200-163842600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:163841200-163842800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:163841200-163843200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:163841200-163843400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:163841200-163843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:163841200-163843600	Weak transcription	Primary B cells from cord blood	blood
50	chr6:163841400-163842600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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