Variant report

Variant	rs728507
Chromosome Location	chr15:42655742-42655743
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	chr15:42651311..42654489-chr15:42654589..42658638,4	K562	blood:

Variant related genes	Relation type
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

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]
rs16973177	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16973182	1.00[EUR][1000 genomes]
rs16973184	1.00[EUR][1000 genomes]
rs16973188	1.00[EUR][1000 genomes]
rs16973200	0.83[EUR][1000 genomes]
rs16973206	1.00[EUR][1000 genomes]
rs17593	1.00[EUR][1000 genomes]
rs28364383	1.00[EUR][1000 genomes]
rs28364387	0.83[EUR][1000 genomes]
rs28364399	0.83[EUR][1000 genomes]
rs28364423	0.83[EUR][1000 genomes]
rs4307925	1.00[EUR][1000 genomes]
rs4486855	1.00[EUR][1000 genomes]
rs4516202	1.00[EUR][1000 genomes]
rs5029919	0.86[EUR][1000 genomes]
rs7167683	1.00[EUR][1000 genomes]
rs7174880	1.00[EUR][1000 genomes]
rs728508	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs728509	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs728510	0.83[EUR][1000 genomes]
rs8024452	1.00[EUR][1000 genomes]
rs8026890	1.00[EUR][1000 genomes]
rs8027800	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8033108	0.83[EUR][1000 genomes]
rs8033734	1.00[EUR][1000 genomes]
rs8033882	1.00[EUR][1000 genomes]
rs8033960	1.00[EUR][1000 genomes]
rs8035332	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8035521	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8038771	1.00[EUR][1000 genomes]
rs8038967	1.00[EUR][1000 genomes]
rs8039470	1.00[EUR][1000 genomes]
rs8040129	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:67 , 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	chr15:42636400-42656600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:42639400-42658600	Weak transcription	Hela-S3	cervix
5	chr15:42641400-42657400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:42645000-42656600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:42645000-42656800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:42645600-42663000	Weak transcription	NHDF-Ad	bronchial
9	chr15:42645600-42663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:42645600-42677800	Weak transcription	Spleen	Spleen
11	chr15:42646000-42656200	Weak transcription	NHEK	skin
12	chr15:42646000-42662600	Weak transcription	Brain Substantia Nigra	brain
13	chr15:42646000-42678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:42646600-42656000	Weak transcription	Colonic Mucosa	Colon
15	chr15:42647200-42656600	Weak transcription	Brain Angular Gyrus	brain
16	chr15:42647200-42658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:42647400-42656800	Weak transcription	Brain Anterior Caudate	brain
18	chr15:42647800-42656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:42647800-42678200	Weak transcription	Ovary	ovary
20	chr15:42649600-42656800	Weak transcription	Left Ventricle	heart
21	chr15:42649600-42659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:42649800-42659800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:42649800-42673200	Weak transcription	Thymus	Thymus
24	chr15:42650000-42656200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:42650200-42659600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:42650600-42661000	Weak transcription	Esophagus	oesophagus
27	chr15:42650600-42661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:42650800-42659400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:42650800-42664000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:42651200-42659600	Weak transcription	Primary T cells from cord blood	blood
31	chr15:42652400-42656400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:42652400-42660600	Weak transcription	Aorta	Aorta
33	chr15:42652400-42665400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:42652600-42656600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr15:42652600-42656800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:42652600-42657200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:42652800-42684400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:42653000-42656600	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:42653000-42656800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr15:42653200-42659200	Enhancers	Psoas Muscle	Psoas
41	chr15:42653200-42691600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:42653400-42658000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
43	chr15:42653400-42659600	Weak transcription	Fetal Intestine Small	intestine
44	chr15:42653800-42656400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
45	chr15:42654200-42656200	Weak transcription	Lung	lung
46	chr15:42654200-42657800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr15:42654200-42677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:42654400-42656200	Weak transcription	Fetal Stomach	stomach
49	chr15:42654400-42665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:42654800-42656000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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