Variant report

Variant	rs73402796
Chromosome Location	chr15:42785032-42785033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42783961..42786032-chr15:42840679..42842565,2	K562	blood:
2	chr15:42781216..42785097-chr15:42786050..42789793,8	K562	blood:
3	chr15:42781216..42785618-chr15:42786050..42793334,15	K562	blood:
4	chr15:42781833..42785082-chr15:42786422..42789177,6	MCF-7	breast:
5	chr15:42781742..42786032-chr15:42840388..42842565,4	K562	blood:

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

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1044866	0.87[AMR][1000 genomes]
rs11541527	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16973349	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs5009460	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57249373	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57349778	0.82[AFR][1000 genomes]
rs58122107	0.85[AFR][1000 genomes]
rs58562675	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58952814	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59058205	0.87[AMR][1000 genomes]
rs59091063	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60060355	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60168929	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60606292	0.87[AMR][1000 genomes]
rs60697170	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60839827	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61368952	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6493048	0.89[AFR][1000 genomes]
rs6493049	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6493050	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7166143	0.87[AMR][1000 genomes]
rs7172064	0.87[AMR][1000 genomes]
rs7172955	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7173155	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7175059	0.87[AFR][1000 genomes]
rs7178822	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7181938	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404708	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404711	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404725	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404729	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404744	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404746	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404754	0.82[AFR][1000 genomes]
rs73404758	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404768	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404774	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404775	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404793	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404797	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73406503	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73406505	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73406509	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73406526	0.87[AMR][1000 genomes]
rs73406531	0.87[AMR][1000 genomes]
rs73406544	0.87[AMR][1000 genomes]
rs73406553	0.87[AMR][1000 genomes]
rs73406557	0.87[AMR][1000 genomes]
rs768118	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8023948	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8027207	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8031383	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8031883	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8033555	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8033810	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8034001	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8035877	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8036927	0.88[AFR][1000 genomes]
rs8037277	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8040624	0.87[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42783400-42787400	Weak transcription	Gastric	stomach
2	chr15:42783600-42786800	Weak transcription	Lung	lung
3	chr15:42783600-42787200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:42783600-42787400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:42783600-42787800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:42783600-42787800	Weak transcription	Spleen	Spleen
7	chr15:42783800-42785400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:42783800-42786000	Weak transcription	HSMM	muscle
9	chr15:42783800-42786800	Weak transcription	Esophagus	oesophagus
10	chr15:42783800-42787000	Enhancers	Primary B cells from peripheral blood	blood
11	chr15:42783800-42787000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:42783800-42787200	Enhancers	Placenta	Placenta
13	chr15:42783800-42787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:42783800-42787400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:42784000-42785200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:42784000-42785400	Weak transcription	Primary T cells from cord blood	blood
17	chr15:42784000-42785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:42784000-42785600	Enhancers	Primary B cells from cord blood	blood
19	chr15:42784000-42785600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:42784000-42785600	Weak transcription	Psoas Muscle	Psoas
21	chr15:42784000-42785600	Weak transcription	GM12878-XiMat	blood
22	chr15:42784000-42785800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:42784000-42785800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:42784000-42785800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:42784000-42786200	Weak transcription	NHDF-Ad	bronchial
26	chr15:42784000-42786400	Weak transcription	Liver	Liver
27	chr15:42784000-42786600	Weak transcription	Brain Anterior Caudate	brain
28	chr15:42784000-42786600	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:42784000-42787000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:42784000-42787000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:42784000-42787000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr15:42784000-42787000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr15:42784000-42787000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr15:42784000-42787000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:42784000-42787000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr15:42784000-42787000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr15:42784000-42787000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:42784000-42787000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:42784000-42787000	Weak transcription	Brain Angular Gyrus	brain
40	chr15:42784000-42787000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:42784000-42787000	Weak transcription	Brain Germinal Matrix	brain
42	chr15:42784000-42787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:42784000-42787000	Weak transcription	Brain Substantia Nigra	brain
44	chr15:42784000-42787000	Weak transcription	Fetal Brain Female	brain
45	chr15:42784000-42787000	Weak transcription	Fetal Lung	lung
46	chr15:42784000-42787000	Weak transcription	Fetal Stomach	stomach
47	chr15:42784000-42787000	Weak transcription	Right Ventricle	heart
48	chr15:42784000-42787000	Weak transcription	A549	lung
49	chr15:42784000-42787000	Weak transcription	HSMMtube	muscle
50	chr15:42784000-42787000	Enhancers	HUVEC	blood vessel

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