Variant report

Variant	rs73244778
Chromosome Location	chr6:163903861-163903862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163896082..163898816-chr6:163902076..163903998,2	K562	blood:
2	chr6:163887956..163890806-chr6:163903233..163905754,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs56003099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56276977	0.93[AFR][1000 genomes]
rs56375308	0.84[AFR][1000 genomes]
rs57075041	1.00[AFR][1000 genomes]
rs57318320	0.93[AFR][1000 genomes]
rs57767588	1.00[AFR][1000 genomes]
rs57832687	0.97[AFR][1000 genomes]
rs57845473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57904637	0.87[AFR][1000 genomes]
rs57945325	0.93[AFR][1000 genomes]
rs57992259	0.93[AFR][1000 genomes]
rs58111601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58159136	0.93[AFR][1000 genomes]
rs58495293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59991282	0.87[AFR][1000 genomes]
rs60058520	0.93[AFR][1000 genomes]
rs60353098	0.90[AFR][1000 genomes]
rs60606954	0.93[AFR][1000 genomes]
rs60632275	0.84[AFR][1000 genomes]
rs60873852	0.93[AFR][1000 genomes]
rs61358847	0.93[AFR][1000 genomes]
rs61586762	0.87[AFR][1000 genomes]
rs6934718	0.93[AFR][1000 genomes]
rs73244762	1.00[AFR][1000 genomes]
rs73244765	1.00[AFR][1000 genomes]
rs73244775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244785	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244786	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244787	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244801	0.93[AFR][1000 genomes]
rs73246605	0.93[AFR][1000 genomes]
rs73246607	0.87[AFR][1000 genomes]
rs73246609	0.93[AFR][1000 genomes]
rs73246610	0.93[AFR][1000 genomes]
rs73246620	0.93[AFR][1000 genomes]
rs73246625	0.93[AFR][1000 genomes]
rs73246641	0.87[AFR][1000 genomes]
rs73246647	0.87[AFR][1000 genomes]
rs73246654	0.87[AFR][1000 genomes]
rs73246671	0.93[AFR][1000 genomes]
rs73246675	0.87[AFR][1000 genomes]
rs73246685	0.87[AFR][1000 genomes]
rs73246688	0.93[AFR][1000 genomes]
rs73246696	0.93[AFR][1000 genomes]
rs73246702	0.81[AFR][1000 genomes]
rs73248703	0.90[AFR][1000 genomes]
rs73784423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784461	0.87[AFR][1000 genomes]
rs73784465	0.93[AFR][1000 genomes]
rs73784482	0.93[AFR][1000 genomes]
rs73784483	0.93[AFR][1000 genomes]
rs73787626	0.93[AFR][1000 genomes]
rs73787637	0.90[AFR][1000 genomes]
rs7771996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv523664	chr6:163858237-163907885	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163878800-163910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:163880600-163906600	Weak transcription	Gastric	stomach
3	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:163882000-163906600	Weak transcription	Thymus	Thymus
5	chr6:163883000-163906800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:163888400-163908200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:163890000-163906200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:163890800-163911400	Weak transcription	Osteobl	bone
9	chr6:163891400-163906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:163891400-163910200	Weak transcription	HUVEC	blood vessel
11	chr6:163891600-163905000	Weak transcription	K562	blood
12	chr6:163892000-163904200	Weak transcription	NHDF-Ad	bronchial
13	chr6:163892200-163911400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:163892600-163906600	Weak transcription	NHEK	skin
15	chr6:163892600-163910400	Weak transcription	HMEC	breast
16	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
17	chr6:163893400-163912000	Weak transcription	Fetal Lung	lung
18	chr6:163893600-163904600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:163893600-163906200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:163893600-163906200	Weak transcription	A549	lung
21	chr6:163893600-163910200	Weak transcription	HSMMtube	muscle
22	chr6:163894400-163904800	Weak transcription	Esophagus	oesophagus
23	chr6:163896000-163906400	Weak transcription	Aorta	Aorta
24	chr6:163896600-163910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr6:163897600-163905800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:163898000-163907800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:163898200-163904000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:163898200-163906600	Weak transcription	Spleen	Spleen
29	chr6:163898400-163906400	Weak transcription	Ovary	ovary
30	chr6:163898400-163908200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:163898400-163909000	Weak transcription	Fetal Brain Female	brain
32	chr6:163898400-163911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:163898600-163907800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:163898800-163907200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:163898800-163908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:163899200-163904800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:163899200-163910200	Weak transcription	Hela-S3	cervix
39	chr6:163899400-163905200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:163899600-163905000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:163899600-163910400	Weak transcription	NHLF	lung
42	chr6:163899800-163904000	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:163899800-163904400	Genic enhancers	Brain Hippocampus Middle	brain
44	chr6:163899800-163905000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:163899800-163911000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:163899800-163911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:163900000-163904000	Strong transcription	GM12878-XiMat	blood
48	chr6:163900000-163905400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr6:163900000-163908000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:163900200-163904800	Strong transcription	Liver	Liver

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