Variant report

Variant	rs8027800
Chromosome Location	chr15:42653586-42653587
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	chr15:42639887..42641455-chr15:42653362..42655559,2	K562	blood:
2	chr15:42632246..42634380-chr15:42651943..42654549,2	K562	blood:

Variant related genes	Relation type
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16972927	0.83[EUR][1000 genomes]
rs16972930	0.83[EUR][1000 genomes]
rs16972969	0.83[EUR][1000 genomes]
rs16973015	0.83[EUR][1000 genomes]
rs16973018	0.83[EUR][1000 genomes]
rs16973022	0.83[EUR][1000 genomes]
rs16973097	0.80[AFR][1000 genomes]
rs16973175	0.88[AFR][1000 genomes]
rs16973177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973182	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973184	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973188	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973200	0.83[EUR][1000 genomes]
rs16973206	1.00[EUR][1000 genomes]
rs17593	1.00[EUR][1000 genomes]
rs28364371	0.81[AFR][1000 genomes]
rs28364372	0.92[AFR][1000 genomes]
rs28364383	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364387	0.83[EUR][1000 genomes]
rs28364399	0.83[EUR][1000 genomes]
rs28364423	0.83[EUR][1000 genomes]
rs4307925	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4486855	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4516202	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5029919	0.86[EUR][1000 genomes]
rs7167683	1.00[EUR][1000 genomes]
rs7174880	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728507	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs728508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs728510	0.83[EUR][1000 genomes]
rs8024452	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8026890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033108	0.83[EUR][1000 genomes]
rs8033734	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033882	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033960	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038771	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038967	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039470	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040129	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040726	0.83[EUR][1000 genomes]
rs934877	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	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
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
2	chr15:42619600-42656200	Weak transcription	HMEC	breast
3	chr15:42627600-42654600	Weak transcription	HSMM	muscle
4	chr15:42636400-42656600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:42637200-42653600	Weak transcription	Brain Germinal Matrix	brain
6	chr15:42639400-42658600	Weak transcription	Hela-S3	cervix
7	chr15:42641400-42657400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:42642400-42655400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:42643000-42654800	Strong transcription	Liver	Liver
10	chr15:42645000-42656600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:42645000-42656800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:42645600-42654400	Weak transcription	NHLF	lung
13	chr15:42645600-42655000	Weak transcription	Right Ventricle	heart
14	chr15:42645600-42655200	Weak transcription	Pancreas	Pancrea
15	chr15:42645600-42663000	Weak transcription	NHDF-Ad	bronchial
16	chr15:42645600-42663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:42645600-42677800	Weak transcription	Spleen	Spleen
18	chr15:42646000-42654000	Weak transcription	Colon Smooth Muscle	Colon
19	chr15:42646000-42654600	Weak transcription	GM12878-XiMat	blood
20	chr15:42646000-42654800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr15:42646000-42655400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:42646000-42656200	Weak transcription	NHEK	skin
23	chr15:42646000-42662600	Weak transcription	Brain Substantia Nigra	brain
24	chr15:42646000-42678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:42646400-42654800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:42646600-42656000	Weak transcription	Colonic Mucosa	Colon
27	chr15:42647200-42653600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:42647200-42656600	Weak transcription	Brain Angular Gyrus	brain
29	chr15:42647200-42658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:42647400-42656800	Weak transcription	Brain Anterior Caudate	brain
31	chr15:42647800-42656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:42647800-42678200	Weak transcription	Ovary	ovary
33	chr15:42649200-42654200	Strong transcription	Lung	lung
34	chr15:42649400-42654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:42649600-42656800	Weak transcription	Left Ventricle	heart
36	chr15:42649600-42659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:42649800-42654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:42649800-42659800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:42649800-42673200	Weak transcription	Thymus	Thymus
40	chr15:42650000-42656200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:42650200-42659600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:42650600-42653800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:42650600-42661000	Weak transcription	Esophagus	oesophagus
44	chr15:42650600-42661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:42650800-42654800	Weak transcription	Adipose Nuclei	Adipose
46	chr15:42650800-42654800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:42650800-42659400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:42650800-42664000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:42651200-42653800	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr15:42651200-42659600	Weak transcription	Primary T cells from cord blood	blood

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