Variant report

Variant	rs893612
Chromosome Location	chr15:44152739-44152740
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	chr15:44152030..44153831-chr15:44160698..44163562,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2930532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930534	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475758	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs494774	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
2	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
3	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
4	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
6	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:44120600-44156600	Weak transcription	Fetal Brain Male	brain
9	chr15:44120600-44157800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:44120600-44158600	Weak transcription	Colonic Mucosa	Colon
11	chr15:44120600-44159600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:44120600-44161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:44120600-44164600	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:44120600-44164600	Weak transcription	NHEK	skin
15	chr15:44120600-44165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:44121400-44159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:44121400-44160600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:44122000-44157000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:44124000-44166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:44128200-44167800	Weak transcription	Ovary	ovary
22	chr15:44128600-44167800	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:44129200-44161200	Weak transcription	Brain Substantia Nigra	brain
24	chr15:44131200-44167600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:44133000-44166000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:44135400-44157800	Weak transcription	Fetal Kidney	kidney
27	chr15:44137800-44160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:44142200-44163800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:44142200-44164600	Weak transcription	Brain Angular Gyrus	brain
30	chr15:44142800-44154000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:44142800-44154000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:44142800-44156800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:44143000-44154200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:44143200-44154000	Strong transcription	Hela-S3	cervix
35	chr15:44143200-44154200	Strong transcription	Fetal Thymus	thymus
36	chr15:44144000-44160400	Weak transcription	HSMM	muscle
37	chr15:44144800-44155800	Weak transcription	Brain Germinal Matrix	brain
38	chr15:44144800-44181000	Weak transcription	HepG2	liver
39	chr15:44145200-44155800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr15:44146000-44153400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:44146400-44156800	Strong transcription	Primary T cells from cord blood	blood
42	chr15:44146600-44158200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:44146600-44165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:44146600-44165800	Weak transcription	Osteobl	bone
45	chr15:44146800-44158000	Weak transcription	Brain Anterior Caudate	brain
46	chr15:44146800-44181600	Weak transcription	Gastric	stomach
47	chr15:44147000-44156800	Weak transcription	Fetal Intestine Small	intestine
48	chr15:44147200-44154400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr15:44147600-44172000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:44147800-44160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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