Variant report

Variant	rs1043348
Chromosome Location	chr13:39584373-39584374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39583306..39585732-chr13:39594165..39596602,2	K562	blood:
2	chr13:39581808..39584670-chr13:39588176..39590668,3	K562	blood:
3	chr13:39581567..39584670-chr13:39588176..39591409,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1012243	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11147746	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12427448	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12428949	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12584883	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12585367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058909	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17059019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826235	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2148419	0.89[ASN][1000 genomes]
rs3751375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60968029	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61737582	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563659	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7323843	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73456199	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943225	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs943233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv977227	chr13:39584329-39585449	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39572200-39584600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr13:39573400-39584800	Weak transcription	K562	blood
3	chr13:39574600-39585000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:39577000-39584600	Weak transcription	Left Ventricle	heart
5	chr13:39579000-39585000	Weak transcription	Gastric	stomach
6	chr13:39580000-39584400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:39580000-39584400	Weak transcription	Dnd41	blood
8	chr13:39580200-39584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:39580200-39584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:39580200-39584600	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:39580200-39584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:39580200-39585000	Weak transcription	Fetal Stomach	stomach
13	chr13:39580200-39585000	Weak transcription	NH-A	brain
14	chr13:39580400-39584600	Weak transcription	Fetal Brain Female	brain
15	chr13:39580400-39585000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:39580400-39585000	Weak transcription	Lung	lung
17	chr13:39580600-39584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:39580800-39584400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:39580800-39584400	Weak transcription	Fetal Lung	lung
20	chr13:39580800-39584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr13:39580800-39584800	Weak transcription	Colon Smooth Muscle	Colon
22	chr13:39580800-39586200	Weak transcription	Colonic Mucosa	Colon
23	chr13:39581000-39584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr13:39581000-39584600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:39581000-39584600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:39581200-39584400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr13:39581200-39584400	Weak transcription	Fetal Kidney	kidney
28	chr13:39581200-39584600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:39581200-39585000	Weak transcription	Aorta	Aorta
30	chr13:39581200-39585000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:39581200-39585000	Weak transcription	Thymus	Thymus
32	chr13:39581400-39584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:39581400-39584600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:39581400-39584600	Weak transcription	A549	lung
35	chr13:39581400-39584600	Weak transcription	HMEC	breast
36	chr13:39581400-39584600	Weak transcription	NHEK	skin
37	chr13:39581400-39585400	Weak transcription	Fetal Intestine Small	intestine
38	chr13:39581600-39584600	Weak transcription	HepG2	liver
39	chr13:39581600-39585000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:39581600-39590800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:39581600-39592000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:39581600-39592400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:39581800-39584600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr13:39581800-39585000	Weak transcription	Esophagus	oesophagus
45	chr13:39581800-39585000	Weak transcription	Spleen	Spleen
46	chr13:39581800-39585400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:39581800-39589400	Strong transcription	Brain Germinal Matrix	brain
48	chr13:39581800-39592200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:39581800-39593200	Strong transcription	HSMM	muscle
50	chr13:39581800-39597000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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