Variant report

Variant	rs149870
Chromosome Location	chr13:51089608-51089609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50655760..50657850-chr13:51088498..51090922,2	K562	blood:
2	chr13:51087212..51089990-chr13:51483181..51484978,2	K562	blood:

Variant related genes	Relation type
ENSG00000233672	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000136104	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1239949	0.84[YRI][hapmap]
rs201742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs201744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs201745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs201746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs201747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs201749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35828380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs671786	0.85[YRI][hapmap];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1835159	chr13:51061044-51091390	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1815534	chr13:51061044-51092946	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816672	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1830736	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1834352	chr13:51061044-51092946	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1841390	chr13:51061044-51092946	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1843375	chr13:51061044-51092946	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51084200-51093200	Weak transcription	Spleen	Spleen
2	chr13:51084400-51093000	Weak transcription	Lung	lung
3	chr13:51086200-51093000	Weak transcription	Placenta	Placenta
4	chr13:51086400-51092400	Weak transcription	Pancreas	Pancrea
5	chr13:51087200-51092200	Weak transcription	Brain Angular Gyrus	brain
6	chr13:51087200-51095400	Weak transcription	Right Ventricle	heart
7	chr13:51087600-51092200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:51087600-51092400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:51087600-51092400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:51087600-51093000	Weak transcription	Psoas Muscle	Psoas
11	chr13:51087600-51094800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:51087600-51095200	Weak transcription	Small Intestine	intestine
13	chr13:51087600-51095600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:51087800-51092400	Weak transcription	NHLF	lung
15	chr13:51087800-51092400	Weak transcription	Osteobl	bone
16	chr13:51087800-51092800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr13:51087800-51093000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:51087800-51093200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:51088000-51090800	Weak transcription	Fetal Kidney	kidney
21	chr13:51088000-51091000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:51088000-51091000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr13:51088000-51091800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:51088000-51092400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:51088000-51092400	Weak transcription	HSMM	muscle
26	chr13:51088000-51092600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr13:51088000-51092800	Weak transcription	Adipose Nuclei	Adipose
28	chr13:51088000-51092800	Weak transcription	Brain Germinal Matrix	brain
29	chr13:51088000-51095200	Weak transcription	Stomach Mucosa	stomach
30	chr13:51088000-51095400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr13:51088200-51090400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr13:51088200-51090800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:51088200-51091000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr13:51088200-51091000	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:51088200-51092000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:51088200-51092400	Weak transcription	HSMMtube	muscle
37	chr13:51088200-51092600	Weak transcription	Fetal Stomach	stomach
38	chr13:51088200-51093000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr13:51088200-51100800	Weak transcription	Primary B cells from cord blood	blood
40	chr13:51088400-51092200	Weak transcription	Brain Substantia Nigra	brain
41	chr13:51088400-51092400	Weak transcription	Brain Anterior Caudate	brain
42	chr13:51088400-51092600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr13:51088600-51090200	Weak transcription	Liver	Liver
44	chr13:51088600-51092600	Weak transcription	HepG2	liver
45	chr13:51088800-51090600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr13:51089000-51090400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:51089200-51089800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:51089200-51090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:51089200-51090800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr13:51089200-51090800	Weak transcription	Fetal Lung	lung

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