Variant report

Variant	rs6494058
Chromosome Location	chr15:59327402-59327403
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	chr15:59320524..59322734-chr15:59325746..59327909,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10518998	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11574500	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11574501	0.88[EUR][1000 genomes]
rs13498	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16940958	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16940976	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16941012	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941048	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16941077	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28383495	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28739021	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28739025	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57164516	0.82[EUR][1000 genomes]
rs6494052	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6494067	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7164061	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171252	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7173787	1.00[AMR][1000 genomes]
rs7173999	0.89[EUR][1000 genomes]
rs7175697	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7177112	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180666	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7181728	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017367	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8026039	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8027376	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8030514	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8030811	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8032299	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8035952	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8040605	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8041633	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8042601	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv510663	chr15:59310676-59370041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
2	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
4	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
5	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:59283800-59329000	Weak transcription	Pancreas	Pancrea
7	chr15:59283800-59344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
9	chr15:59285000-59328000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:59295600-59335400	Weak transcription	Lung	lung
13	chr15:59301200-59335400	Weak transcription	HUVEC	blood vessel
14	chr15:59305400-59354400	Weak transcription	Gastric	stomach
15	chr15:59306000-59353400	Weak transcription	Fetal Heart	heart
16	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
17	chr15:59309200-59336600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:59313600-59328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:59317600-59331400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:59319600-59331800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:59321400-59336800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:59321600-59336200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:59323000-59327600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:59323000-59328000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:59323000-59328000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:59323000-59328600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:59323000-59329000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:59323000-59330400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:59323000-59330600	Strong transcription	Hela-S3	cervix
31	chr15:59323000-59330800	Strong transcription	Primary B cells from cord blood	blood
32	chr15:59323000-59331200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:59323000-59331200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:59323000-59331800	Strong transcription	Placenta	Placenta
35	chr15:59323200-59328400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:59323200-59329000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:59323200-59331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:59323400-59327800	Weak transcription	Fetal Stomach	stomach
39	chr15:59323600-59328000	Weak transcription	Brain Germinal Matrix	brain
40	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
41	chr15:59323800-59329000	Weak transcription	Brain Substantia Nigra	brain
42	chr15:59323800-59330400	Weak transcription	Ovary	ovary
43	chr15:59323800-59335400	Weak transcription	Psoas Muscle	Psoas
44	chr15:59323800-59343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:59323800-59347600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:59323800-59348400	Weak transcription	Brain Anterior Caudate	brain
47	chr15:59324000-59331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:59324000-59335600	Weak transcription	Brain Angular Gyrus	brain
49	chr15:59324000-59344600	Weak transcription	HMEC	breast
50	chr15:59324000-59345200	Weak transcription	Placenta Amnion	Placenta Amnion

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