Variant report

Variant	rs13377828
Chromosome Location	chr12:49879163-49879164
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	chr12:49872294..49876193-chr12:49879137..49882751,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11169055	1.00[AMR][1000 genomes]
rs11830622	1.00[AMR][1000 genomes]
rs11834883	1.00[AMR][1000 genomes]
rs11836969	1.00[AMR][1000 genomes]
rs12296998	1.00[AMR][1000 genomes]
rs12298123	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300085	1.00[AMR][1000 genomes]
rs12306942	1.00[AMR][1000 genomes]
rs12309399	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310046	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311319	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311910	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313583	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314348	1.00[AMR][1000 genomes]
rs12315746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315941	1.00[AMR][1000 genomes]
rs12318913	1.00[AMR][1000 genomes]
rs12320104	1.00[AMR][1000 genomes]
rs12320434	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs12320612	1.00[AMR][1000 genomes]
rs12321717	1.00[AMR][1000 genomes]
rs57970210	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58867453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59250711	1.00[AMR][1000 genomes]
rs59570650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60254449	1.00[AMR][1000 genomes]
rs60507124	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60658484	1.00[AMR][1000 genomes]
rs61227990	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	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv518746	chr12:49870964-49924637	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
3	chr12:49846000-49879800	Weak transcription	Fetal Lung	lung
4	chr12:49850400-49911000	Weak transcription	K562	blood
5	chr12:49853200-49913400	Weak transcription	Thymus	Thymus
6	chr12:49856400-49883400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:49856600-49890200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:49856600-49890200	Weak transcription	Ovary	ovary
9	chr12:49856800-49883600	Weak transcription	Dnd41	blood
10	chr12:49856800-49898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:49859400-49883400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:49859400-49888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:49869600-49890000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:49870200-49884600	Weak transcription	Spleen	Spleen
16	chr12:49872200-49895000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:49873000-49881000	Weak transcription	Lung	lung
18	chr12:49873000-49890400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:49873800-49904600	Weak transcription	Fetal Heart	heart
22	chr12:49874000-49889800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:49874000-49904400	Weak transcription	Fetal Brain Male	brain
24	chr12:49874200-49890600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:49874800-49914200	Weak transcription	Fetal Kidney	kidney
26	chr12:49875800-49880200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:49876000-49879400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:49876400-49880000	Weak transcription	Osteobl	bone
29	chr12:49876400-49881400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:49876400-49894800	Weak transcription	Fetal Intestine Large	intestine
31	chr12:49876400-49897600	Weak transcription	Small Intestine	intestine
32	chr12:49876400-49911200	Weak transcription	Adipose Nuclei	Adipose
33	chr12:49876600-49883000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:49876600-49883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:49876600-49890000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:49876600-49893200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:49876800-49879200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:49876800-49879400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:49876800-49880000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:49876800-49880000	Weak transcription	Left Ventricle	heart
41	chr12:49876800-49881000	Weak transcription	Gastric	stomach
42	chr12:49876800-49883000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:49876800-49888400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:49876800-49890000	Weak transcription	NHLF	lung
45	chr12:49876800-49890200	Weak transcription	Fetal Thymus	thymus
46	chr12:49876800-49890400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:49876800-49898000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:49876800-49905200	Weak transcription	Right Ventricle	heart
49	chr12:49876800-49916200	Weak transcription	Psoas Muscle	Psoas
50	chr12:49877000-49880000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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