Variant report

Variant	rs2414616
Chromosome Location	chr15:59272648-59272649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59271260..59274887-chr15:59397313..59399336,3	K562	blood:
2	chr15:59272151..59273342-chr15:59429978..59430828,6	MCF-7	breast:
3	chr15:59245090..59247424-chr15:59270731..59272689,2	MCF-7	breast:
4	chr15:59270453..59272806-chr15:59287808..59289576,2	K562	blood:
5	chr15:59272370..59273203-chr15:59785181..59785695,2	K562	blood:
6	chr15:59272284..59273222-chr15:59430080..59431038,7	K562	blood:
7	chr15:59271482..59274101-chr15:59428986..59430660,2	MCF-7	breast:
8	chr15:59272484..59273573-chr15:59453101..59454034,3	MCF-7	breast:
9	chr15:59270904..59273461-chr15:59278790..59281623,2	MCF-7	breast:
10	chr15:59264832..59268316-chr15:59270514..59274227,3	K562	blood:
11	chr15:59271834..59273496-chr15:59277776..59280062,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157456	Chromatin interaction
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1613602	1.00[AMR][1000 genomes]
rs1693535	0.83[AFR][1000 genomes]
rs1693536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2899638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2955703	1.00[AMR][1000 genomes]
rs392739	1.00[AMR][1000 genomes]
rs413731	1.00[AMR][1000 genomes]
rs4238332	1.00[AMR][1000 genomes]
rs4238333	1.00[AMR][1000 genomes]
rs442321	1.00[AMR][1000 genomes]
rs4444273	1.00[AMR][1000 genomes]
rs4775100	1.00[AMR][1000 genomes]
rs4775104	1.00[AMR][1000 genomes]
rs4775105	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551943	1.00[AMR][1000 genomes]
rs571030	1.00[AMR][1000 genomes]
rs6494049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs655312	1.00[AMR][1000 genomes]
rs7163754	1.00[AMR][1000 genomes]
rs7178664	1.00[AMR][1000 genomes]
rs7183794	0.85[AFR][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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3431541	chr15:59272553-59272874	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59265600-59279200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:59266000-59274400	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:59268000-59273800	Weak transcription	Adipose Nuclei	Adipose
4	chr15:59268600-59273000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:59268600-59274000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:59268600-59279000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:59268800-59272800	Weak transcription	Primary T cells from cord blood	blood
8	chr15:59268800-59272800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:59268800-59273000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:59268800-59273000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:59268800-59273000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:59268800-59273000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:59268800-59273200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:59269000-59272800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:59269000-59272800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:59269000-59273000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:59269000-59273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:59269600-59274400	Enhancers	Primary B cells from cord blood	blood
19	chr15:59270000-59274000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:59271400-59274200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:59271600-59273400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:59271800-59272800	Enhancers	NHDF-Ad	bronchial
23	chr15:59271800-59273200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr15:59271800-59273600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr15:59271800-59273600	Enhancers	Duodenum Mucosa	Duodenum
26	chr15:59272000-59273000	Weak transcription	NHLF	lung
27	chr15:59272000-59273800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr15:59272200-59274400	Flanking Active TSS	GM12878-XiMat	blood
29	chr15:59272200-59279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:59272400-59272800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr15:59272400-59279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:59272400-59279200	Weak transcription	NHEK	skin
33	chr15:59272600-59273000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:59272600-59273600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr15:59272600-59273600	Weak transcription	Osteobl	bone
36	chr15:59272600-59273800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr15:59272600-59273800	Enhancers	Dnd41	blood
38	chr15:59272600-59274000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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