Variant report

Variant	rs7172955
Chromosome Location	chr15:42788775-42788776
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42781216..42785618-chr15:42786050..42793334,15	K562	blood:
2	chr15:42786881..42789392-chr15:42840485..42842780,2	K562	blood:
3	chr15:42781833..42785082-chr15:42786422..42789177,6	MCF-7	breast:
4	chr15:42781216..42785097-chr15:42786050..42789793,8	K562	blood:

Variant related genes	Relation type
ENSG00000103994	Chromatin interaction
ENSG00000180979	Chromatin interaction
ENSG00000137814	Chromatin interaction
ENSG00000092531	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1044866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11541527	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973349	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36090286	0.83[AFR][1000 genomes]
rs5009460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57249373	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57349778	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58122107	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58562675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58952814	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59058205	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59091063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60060355	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60168929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606292	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60697170	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60839827	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61368952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61474811	0.85[AMR][1000 genomes]
rs6493048	0.99[AFR][1000 genomes]
rs6493049	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493050	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7166143	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7166633	0.87[AMR][1000 genomes]
rs7172064	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7173155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7175059	0.87[AMR][1000 genomes]
rs7178822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7181938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402762	0.85[AMR][1000 genomes]
rs73402776	0.85[AMR][1000 genomes]
rs73402796	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404708	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404754	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404774	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404793	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406526	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406553	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs768118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8023948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8031383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8031883	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033810	1.00[AMR][1000 genomes]
rs8034001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8035877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8036927	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8037277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8040624	0.89[AFR][1000 genomes];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	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42785000-42789000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr15:42786800-42789200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:42787000-42788800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:42787000-42788800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr15:42787000-42788800	Active TSS	Aorta	Aorta
6	chr15:42787000-42789000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:42787000-42789000	Active TSS	Colonic Mucosa	Colon
8	chr15:42787000-42789000	Active TSS	Right Ventricle	heart
9	chr15:42787200-42788800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr15:42787200-42788800	Active TSS	Brain Substantia Nigra	brain
11	chr15:42787200-42788800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr15:42787200-42788800	Active TSS	Lung	lung
13	chr15:42787200-42788800	Active TSS	Stomach Mucosa	stomach
14	chr15:42787200-42788800	Active TSS	HSMM	muscle
15	chr15:42787200-42788800	Active TSS	NHDF-Ad	bronchial
16	chr15:42787200-42789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:42787200-42789200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:42787400-42788800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr15:42787400-42788800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr15:42787400-42788800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr15:42787400-42788800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:42787400-42788800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr15:42787400-42788800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:42787400-42788800	Active TSS	Fetal Intestine Small	intestine
25	chr15:42787400-42788800	Active TSS	Fetal Stomach	stomach
26	chr15:42787400-42788800	Active TSS	Psoas Muscle	Psoas
27	chr15:42787400-42788800	Active TSS	Rectal Smooth Muscle	rectum
28	chr15:42787400-42789000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:42787400-42789000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:42787400-42789200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:42787400-42789200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr15:42787400-42789200	Active TSS	Fetal Intestine Large	intestine
33	chr15:42787600-42788800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr15:42787600-42788800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:42787600-42788800	Active TSS	HMEC	breast
36	chr15:42787600-42788800	Active TSS	Osteobl	bone
37	chr15:42787600-42789000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr15:42787600-42789000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr15:42787600-42789000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:42787600-42790000	Active TSS	GM12878-XiMat	blood
41	chr15:42787800-42788800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr15:42787800-42788800	Active TSS	NH-A	brain
43	chr15:42787800-42789000	Active TSS	NHLF	lung
44	chr15:42788000-42788800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr15:42788000-42788800	Flanking Active TSS	Thymus	Thymus
46	chr15:42788000-42789000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr15:42788200-42788800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:42788200-42788800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr15:42788200-42788800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr15:42788200-42788800	Flanking Active TSS	Brain Anterior Caudate	brain

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