Variant report

Variant	rs6494045
Chromosome Location	chr15:59220171-59220172
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	chr15:59198637..59200258-chr15:59218606..59220770,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11855499	0.82[EUR][1000 genomes]
rs11855779	0.85[EUR][1000 genomes]
rs11856771	0.87[EUR][1000 genomes]
rs11857223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940919	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16940921	0.82[EUR][1000 genomes]
rs16940923	0.82[EUR][1000 genomes]
rs16953404	1.00[CEU][hapmap]
rs2124203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7183404	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414818	0.85[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	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	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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	48 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59169200-59223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:59170800-59224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:59179800-59224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:59182200-59224200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:59192200-59223400	Weak transcription	Right Ventricle	heart
6	chr15:59192600-59223400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:59192800-59221200	Weak transcription	Small Intestine	intestine
8	chr15:59192800-59223200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:59192800-59224200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:59193000-59223200	Weak transcription	Aorta	Aorta
11	chr15:59193000-59223200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:59193000-59224200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:59193000-59224200	Weak transcription	Colonic Mucosa	Colon
14	chr15:59193000-59224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:59194000-59223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr15:59197200-59225000	Weak transcription	Gastric	stomach
17	chr15:59199800-59224200	Weak transcription	Esophagus	oesophagus
18	chr15:59200600-59224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:59203200-59221000	Weak transcription	Brain Substantia Nigra	brain
20	chr15:59208000-59223200	Weak transcription	Brain Angular Gyrus	brain
21	chr15:59208000-59223200	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:59209600-59223400	Weak transcription	Fetal Brain Male	brain
23	chr15:59209600-59223400	Weak transcription	Fetal Brain Female	brain
24	chr15:59211000-59223200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:59211400-59222600	Strong transcription	Fetal Thymus	thymus
26	chr15:59211400-59223000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:59211400-59223200	Weak transcription	Fetal Heart	heart
28	chr15:59211600-59223000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:59211800-59224200	Weak transcription	Pancreas	Pancrea
30	chr15:59212200-59223400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:59215000-59221200	Strong transcription	Dnd41	blood
32	chr15:59215600-59224200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:59215800-59223400	Weak transcription	Thymus	Thymus
34	chr15:59216200-59220200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:59216800-59221000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:59216800-59221400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr15:59217000-59220200	Strong transcription	Fetal Intestine Large	intestine
38	chr15:59217000-59221400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:59217200-59222000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:59217200-59222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:59217200-59223200	Weak transcription	Stomach Mucosa	stomach
42	chr15:59217400-59222000	Strong transcription	HSMM	muscle
43	chr15:59217600-59221400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:59217600-59221600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:59217600-59221600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr15:59217600-59222000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr15:59217600-59222200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:59217600-59222200	Strong transcription	K562	blood
49	chr15:59217600-59222600	Strong transcription	NHEK	skin
50	chr15:59217800-59220200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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