Variant report

Variant	rs8041223
Chromosome Location	chr15:59936526-59936527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59934768..59938897-chr15:59945804..59950909,4	K562	blood:

Variant related genes	Relation type
ENSG00000140307	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1129616	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11637359	0.86[CHD][hapmap]
rs1871505	0.92[ASN][1000 genomes]
rs2101019	0.87[CHD][hapmap]
rs2307273	0.87[CHD][hapmap]
rs4270113	0.83[CHD][hapmap]
rs6151483	0.87[CHD][hapmap]
rs6151551	0.87[CHD][hapmap]
rs66913808	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7882	0.83[CHD][hapmap]

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	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
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
4	nsv569605	chr15:59855226-59956553	Strong transcription Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59905200-59946200	Weak transcription	Gastric	stomach
2	chr15:59914800-59937800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:59920600-59947000	Weak transcription	Small Intestine	intestine
4	chr15:59925000-59936800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:59925000-59936800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:59925000-59943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:59925400-59937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:59925600-59936600	Weak transcription	NHLF	lung
9	chr15:59925600-59937800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:59925600-59948600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:59925800-59936600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:59925800-59943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:59926200-59936800	Weak transcription	Fetal Brain Male	brain
14	chr15:59926200-59937000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:59926400-59936600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:59926600-59936600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:59926600-59944000	Weak transcription	Fetal Kidney	kidney
18	chr15:59926600-59947600	Weak transcription	Right Ventricle	heart
19	chr15:59926600-59948000	Weak transcription	Brain Angular Gyrus	brain
20	chr15:59927000-59937000	Weak transcription	Lung	lung
21	chr15:59927200-59936600	Weak transcription	HMEC	breast
22	chr15:59927200-59948800	Weak transcription	Aorta	Aorta
23	chr15:59927400-59943800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:59927800-59942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:59928400-59936600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:59928400-59940200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:59928400-59945600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:59928800-59937400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:59928800-59942000	Weak transcription	Fetal Heart	heart
30	chr15:59929000-59936600	Weak transcription	Brain Substantia Nigra	brain
31	chr15:59929000-59936800	Weak transcription	Esophagus	oesophagus
32	chr15:59929000-59942200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:59929000-59944000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:59929000-59947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:59929200-59941400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:59929200-59947600	Weak transcription	Ovary	ovary
37	chr15:59929600-59942400	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:59929600-59945800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr15:59929800-59936800	Weak transcription	Spleen	Spleen
40	chr15:59929800-59940200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:59929800-59946400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:59930000-59937800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:59930600-59936600	Weak transcription	Thymus	Thymus
44	chr15:59930600-59936600	Weak transcription	NHEK	skin
45	chr15:59930600-59939200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:59930600-59948200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:59930800-59936600	Weak transcription	Fetal Lung	lung
48	chr15:59931000-59936600	Weak transcription	Brain Germinal Matrix	brain
49	chr15:59931000-59941600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:59931200-59937800	Weak transcription	Psoas Muscle	Psoas

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