Variant report

Variant	rs2414160
Chromosome Location	chr15:52872530-52872531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:52872305-52872626	H1-hESC	embryonic stem cell:	n/a	chr15:52872432-52872443 chr15:52872433-52872442

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52871077..52873977-chr15:52876132..52878207,2	K562	blood:
2	chr15:52870721..52872955-chr15:52893806..52896015,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260618	TF binding region
ENSG00000260618	Chromatin interaction
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1080731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10851521	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs11070907	0.90[CHB][hapmap]
rs11070909	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11853917	0.90[CHB][hapmap]
rs11855616	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857150	0.90[CHB][hapmap]
rs12594964	0.81[ASN][1000 genomes]
rs12898644	0.90[CHB][hapmap]
rs12902679	1.00[CHB][hapmap]
rs12914502	0.90[CHB][hapmap]
rs12915981	1.00[CHB][hapmap]
rs13329393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs17614559	1.00[CHB][hapmap]
rs17651941	0.81[CEU][hapmap]
rs1863512	0.89[CHB][hapmap]
rs2288271	0.90[CHB][hapmap]
rs2414161	1.00[CHB][hapmap]
rs2414163	1.00[CHB][hapmap]
rs2414166	1.00[CHB][hapmap]
rs2414167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs28368342	0.81[EUR][1000 genomes]
rs3751614	1.00[CHB][hapmap]
rs4390542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4548810	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs4774634	0.82[CEU][hapmap];0.80[CHB][hapmap]
rs4776058	0.90[CHB][hapmap]
rs4776063	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs4776065	1.00[CHB][hapmap]
rs4776066	1.00[CHB][hapmap]
rs7167494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8026800	0.90[CHB][hapmap]
rs8030141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs933860	1.00[CHB][hapmap]

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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861400-52873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:52861400-52878600	Weak transcription	Ovary	ovary
4	chr15:52861400-52883600	Weak transcription	Lung	lung
5	chr15:52861600-52873000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:52861600-52873200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:52861600-52873600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:52861600-52874000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:52861600-52880600	Weak transcription	Fetal Intestine Small	intestine
10	chr15:52861600-52883800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:52861600-52884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:52861600-52885000	Weak transcription	Spleen	Spleen
13	chr15:52861600-52901600	Weak transcription	Esophagus	oesophagus
14	chr15:52861800-52873000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:52861800-52873000	Weak transcription	Placenta	Placenta
16	chr15:52861800-52873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:52861800-52873200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:52861800-52873400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:52861800-52873600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:52861800-52873600	Weak transcription	Adipose Nuclei	Adipose
21	chr15:52861800-52873600	Weak transcription	Brain Anterior Caudate	brain
22	chr15:52861800-52873600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:52861800-52873600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:52861800-52873800	Weak transcription	Fetal Thymus	thymus
25	chr15:52861800-52873800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:52861800-52874200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:52861800-52874200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:52861800-52874200	Weak transcription	Fetal Intestine Large	intestine
29	chr15:52861800-52874200	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:52861800-52874200	Weak transcription	HSMM	muscle
31	chr15:52861800-52875000	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:52861800-52875400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:52861800-52875600	Weak transcription	Fetal Stomach	stomach
34	chr15:52861800-52876000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:52861800-52876400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:52861800-52878600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr15:52861800-52882600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:52861800-52882600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:52861800-52883800	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:52861800-52884400	Weak transcription	Thymus	Thymus
41	chr15:52861800-52890600	Weak transcription	Fetal Kidney	kidney
42	chr15:52861800-52896800	Weak transcription	Hela-S3	cervix
43	chr15:52861800-52901600	Weak transcription	A549	lung
44	chr15:52861800-52908400	Weak transcription	Gastric	stomach
45	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
46	chr15:52862000-52901600	Weak transcription	Brain Angular Gyrus	brain
47	chr15:52865200-52873200	Weak transcription	Fetal Lung	lung
48	chr15:52866400-52889800	Weak transcription	Pancreas	Pancrea
49	chr15:52867400-52872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:52867400-52882400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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