Variant report

Variant	rs7180583
Chromosome Location	chr15:44208727-44208728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44196106..44199754-chr15:44205350..44208904,3	K562	blood:
2	chr15:44208448..44210061-chr15:44210295..44213108,2	K562	blood:
3	chr15:44196908..44202469-chr15:44206840..44210782,4	K562	blood:

Variant related genes	Relation type
ENSG00000171877	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16958828	1.00[AMR][1000 genomes]
rs16959357	1.00[AMR][1000 genomes]
rs7172717	1.00[AMR][1000 genomes]
rs8035946	1.00[AMR][1000 genomes]
rs8036490	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs8037399	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8038605	0.83[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:44196400-44212200	Weak transcription	Fetal Stomach	stomach
4	chr15:44196400-44216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:44198000-44211600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:44198200-44217600	Weak transcription	Brain Germinal Matrix	brain
7	chr15:44201400-44209000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:44204400-44209000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:44206000-44213400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:44206200-44210800	Weak transcription	HSMMtube	muscle
11	chr15:44206200-44211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:44206200-44211600	Weak transcription	Aorta	Aorta
13	chr15:44206600-44211000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:44206600-44211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:44206600-44212000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:44206800-44210000	Weak transcription	NH-A	brain
17	chr15:44206800-44212000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:44206800-44212000	Weak transcription	NHDF-Ad	bronchial
19	chr15:44206800-44217800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:44207000-44210000	Weak transcription	HMEC	breast
21	chr15:44207000-44212200	Weak transcription	Osteobl	bone
22	chr15:44207000-44214200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:44207200-44214600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:44207400-44208800	Enhancers	Fetal Heart	heart
25	chr15:44207600-44208800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:44207600-44208800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:44207600-44208800	Enhancers	Brain Angular Gyrus	brain
28	chr15:44207600-44208800	Enhancers	Fetal Brain Female	brain
29	chr15:44208000-44208800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:44208000-44208800	Enhancers	Brain Anterior Caudate	brain
31	chr15:44208000-44208800	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:44208000-44217800	Weak transcription	NHLF	lung
33	chr15:44208200-44208800	Enhancers	Adipose Nuclei	Adipose
34	chr15:44208200-44209000	Strong transcription	NHEK	skin
35	chr15:44208200-44211800	Weak transcription	Fetal Lung	lung
36	chr15:44208400-44211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:44208400-44211600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:44208400-44212200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:44208400-44212400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:44208400-44212800	Weak transcription	Right Atrium	heart
41	chr15:44208400-44213000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:44208400-44213000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:44208400-44213000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:44208400-44213200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:44208600-44209800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:44208600-44210400	Weak transcription	Fetal Brain Male	brain
47	chr15:44208600-44210600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:44208600-44210800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:44208600-44210800	Weak transcription	Brain Substantia Nigra	brain
50	chr15:44208600-44211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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