Variant report

Variant	rs1022854
Chromosome Location	chr13:51828240-51828241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51823005..51824634-chr13:51826907..51829681,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17075482	1.00[CHB][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4941695	0.81[AFR][1000 genomes]
rs4942982	1.00[CHB][hapmap]
rs6561627	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7995246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535627	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9568572	1.00[CHB][hapmap]
rs9591400	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs9596491	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv974015	chr13:51826569-51831493	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51816200-51836600	Weak transcription	Adipose Nuclei	Adipose
2	chr13:51816800-51836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:51818800-51832800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:51820800-51833000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:51821200-51829600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:51821400-51829600	Weak transcription	Right Atrium	heart
7	chr13:51821400-51833200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:51821400-51833800	Weak transcription	Gastric	stomach
9	chr13:51821600-51836200	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:51821600-51839000	Weak transcription	Esophagus	oesophagus
11	chr13:51821600-51845000	Weak transcription	Fetal Brain Male	brain
12	chr13:51821800-51831400	Weak transcription	Fetal Lung	lung
13	chr13:51822200-51833200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:51822600-51831000	Enhancers	Fetal Heart	heart
15	chr13:51824200-51844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:51824400-51836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:51825000-51829000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr13:51825000-51833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:51825200-51832800	Weak transcription	Fetal Thymus	thymus
20	chr13:51825200-51833200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:51825400-51840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr13:51825600-51829400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:51826000-51833600	Weak transcription	Pancreas	Pancrea
24	chr13:51826400-51829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:51826400-51833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:51826400-51833200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:51826400-51833800	Weak transcription	Lung	lung
28	chr13:51826400-51854600	Weak transcription	Aorta	Aorta
29	chr13:51826600-51829800	Weak transcription	Fetal Stomach	stomach
30	chr13:51826600-51830000	Weak transcription	Brain Germinal Matrix	brain
31	chr13:51826600-51830600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:51826600-51832200	Weak transcription	Spleen	Spleen
33	chr13:51826800-51828400	Enhancers	Primary B cells from peripheral blood	blood
34	chr13:51826800-51828600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr13:51826800-51830800	Genic enhancers	Brain Cingulate Gyrus	brain
36	chr13:51827000-51828800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr13:51827000-51829200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:51827000-51829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:51827000-51830000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:51827000-51832600	Weak transcription	Brain Angular Gyrus	brain
41	chr13:51827200-51828400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:51827200-51828400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:51827200-51829400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:51827200-51829400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:51827200-51829800	Weak transcription	Fetal Brain Female	brain
46	chr13:51827200-51830800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr13:51827400-51828600	Enhancers	Primary B cells from cord blood	blood
48	chr13:51827400-51831400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:51827600-51828400	Enhancers	Colon Smooth Muscle	Colon
50	chr13:51827600-51831000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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