Variant report

Variant	rs9505988
Chromosome Location	chr6:149999603-149999604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149996900..150000270-chr6:150001937..150004425,4	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17087775	1.00[AMR][1000 genomes]
rs28692896	1.00[AMR][1000 genomes]
rs73781228	1.00[AMR][1000 genomes]
rs9478144	1.00[YRI][hapmap]
rs9478410	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9478822	1.00[YRI][hapmap]
rs9478945	1.00[MKK][hapmap]
rs9478948	1.00[YRI][hapmap]
rs9479096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479409	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9479882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480114	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480479	0.81[AFR][1000 genomes]
rs9485398	1.00[AMR][1000 genomes]
rs9498377	1.00[AMR][1000 genomes]
rs9498386	1.00[AMR][1000 genomes]
rs9498388	1.00[AMR][1000 genomes]
rs9498389	1.00[AMR][1000 genomes]
rs9505828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9505976	1.00[AMR][1000 genomes]
rs9505978	0.81[AFR][1000 genomes]
rs9505990	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149977200-150022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:149977400-150001600	Strong transcription	Placenta	Placenta
3	chr6:149977800-150001800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:149977800-150005800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:149977800-150020600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:149978000-150029200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:149980000-150003400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:149980000-150008000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:149980400-150001600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:149980600-150024800	Strong transcription	Fetal Thymus	thymus
11	chr6:149980800-150005800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:149981200-150018800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr6:149981800-150001600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:149982200-150001600	Strong transcription	Fetal Intestine Large	intestine
15	chr6:149982400-150004400	Weak transcription	Right Atrium	heart
16	chr6:149982600-150001600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr6:149982800-150001800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:149982800-150003400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:149983000-150001600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:149983400-150004200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:149983800-150004400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:149983800-150005800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr6:149984600-150004400	Weak transcription	A549	lung
24	chr6:149987000-150036800	Weak transcription	Hela-S3	cervix
25	chr6:149988000-150002200	Strong transcription	Liver	Liver
26	chr6:149988200-150001400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:149988200-150008000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:149988400-150002000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:149989400-150001600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:149990400-150003600	Weak transcription	Pancreas	Pancrea
31	chr6:149990400-150004200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:149990600-150004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:149990800-150001800	Weak transcription	HSMMtube	muscle
34	chr6:149991000-150004600	Weak transcription	Aorta	Aorta
35	chr6:149991400-150003000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:149992000-150004200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:149992800-150001400	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:149994000-150000000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:149994400-150000000	Strong transcription	GM12878-XiMat	blood
40	chr6:149994400-150002200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr6:149994400-150002600	Strong transcription	Dnd41	blood
42	chr6:149994600-150012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:149995400-150000200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:149995800-150000000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:149995800-150004400	Weak transcription	Stomach Mucosa	stomach
46	chr6:149996000-150000800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:149996000-150001600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr6:149996000-150001600	Strong transcription	K562	blood
49	chr6:149996000-150001800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:149996400-150000000	Strong transcription	Fetal Brain Male	brain

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