Variant report

Variant	rs1012243
Chromosome Location	chr13:39628344-39628345
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	chr13:39531190..39533683-chr13:39627978..39630971,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1043348	0.83[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11147746	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427448	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428640	0.86[EUR][1000 genomes]
rs12428949	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12584883	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12585367	0.83[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17058909	0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs17059019	0.83[CHB][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17826235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148419	1.00[ASN][1000 genomes]
rs3751375	0.83[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60968029	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61737582	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6563659	0.90[JPT][hapmap]
rs7323843	0.83[EUR][1000 genomes]
rs73456199	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs943225	0.90[JPT][hapmap];0.82[YRI][hapmap]
rs943233	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	nsv1035255	chr13:39618302-39715336	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39613000-39629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:39613000-39636200	Weak transcription	Spleen	Spleen
3	chr13:39613200-39636400	Weak transcription	Gastric	stomach
4	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
5	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
6	chr13:39613200-39647200	Weak transcription	Lung	lung
7	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
8	chr13:39613600-39629000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:39613600-39629200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:39613600-39629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:39613800-39639200	Weak transcription	Fetal Stomach	stomach
12	chr13:39614000-39628400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:39614000-39634400	Weak transcription	Fetal Kidney	kidney
14	chr13:39614400-39644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:39615000-39628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:39615000-39629800	Weak transcription	Brain Germinal Matrix	brain
17	chr13:39615000-39634400	Weak transcription	Fetal Brain Male	brain
18	chr13:39615000-39636200	Weak transcription	Fetal Intestine Small	intestine
19	chr13:39615000-39638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:39615200-39631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:39615200-39637600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:39617200-39628800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr13:39618200-39629200	Weak transcription	NHDF-Ad	bronchial
24	chr13:39618600-39643800	Weak transcription	Ovary	ovary
25	chr13:39619200-39631800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr13:39619600-39632600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:39619800-39629600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr13:39619800-39629600	Weak transcription	Placenta	Placenta
29	chr13:39620000-39633600	Weak transcription	GM12878-XiMat	blood
30	chr13:39620000-39644200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:39622600-39631800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr13:39622600-39643000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr13:39622800-39631400	Weak transcription	Fetal Lung	lung
34	chr13:39622800-39639000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr13:39623600-39629400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr13:39623600-39629400	Weak transcription	HSMM	muscle
37	chr13:39623600-39636200	Weak transcription	Fetal Intestine Large	intestine
38	chr13:39624000-39644400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr13:39625800-39630600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr13:39627000-39628400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr13:39627000-39628600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:39627000-39628800	Active TSS	Brain Substantia Nigra	brain
43	chr13:39627000-39629000	Active TSS	Brain Anterior Caudate	brain
44	chr13:39627200-39628400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr13:39627200-39628800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr13:39627200-39628800	Active TSS	Brain Angular Gyrus	brain
47	chr13:39627200-39628800	Active TSS	Brain Cingulate Gyrus	brain
48	chr13:39627200-39628800	Active TSS	Fetal Muscle Trunk	muscle
49	chr13:39627200-39629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:39627200-39629400	Active TSS	Brain Hippocampus Middle	brain

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