Variant report

Variant	rs598869
Chromosome Location	chr11:74046975-74046976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74046011..74047710-chr11:74054931..74057499,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1044782	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1053021	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10736795	0.87[ASN][1000 genomes]
rs10793072	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793073	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793074	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793075	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793077	0.83[ASN][1000 genomes]
rs10793078	0.85[ASN][1000 genomes]
rs10793079	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10793080	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10793081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898981	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10898983	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11236061	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236068	0.92[ASN][1000 genomes]
rs11236073	0.85[ASN][1000 genomes]
rs11236087	0.96[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11236088	0.96[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1145687	0.84[ASN][1000 genomes]
rs11559629	0.90[ASN][1000 genomes]
rs2887119	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3168173	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35170680	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3741130	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3862799	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3867268	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3867270	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3867271	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs3867272	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs479968	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs480358	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs486758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944041	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4944887	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs519083	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs538103	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs563626	0.80[AMR][1000 genomes]
rs58950228	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs592644	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs595798	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs596976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs597729	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61902399	0.84[ASN][1000 genomes]
rs623065	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs625632	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs634608	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs637921	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs641271	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs646047	0.92[ASN][1000 genomes]
rs655719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs657329	0.92[ASN][1000 genomes]
rs6592557	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs662393	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs673103	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7120394	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7926851	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7928036	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7930193	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7934621	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7940145	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7941916	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7944333	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7945908	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs7947911	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs598869	KRTAP5-11	cis	cerebellum	SCAN
rs598869	UCP2	cis	multi-tissue	Pritchard
rs598869	HNRNPA1P40	cis	Thyroid	GTEx
rs598869	C2CD3	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74031200-74071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74033200-74047200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:74037000-74055400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:74037200-74050000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:74037400-74051600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:74037400-74052200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:74037400-74078800	Weak transcription	Small Intestine	intestine
8	chr11:74037600-74051600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:74037600-74052800	Weak transcription	A549	lung
10	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
11	chr11:74038000-74047000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:74038000-74047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:74038000-74047200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:74038000-74047400	Weak transcription	Brain Germinal Matrix	brain
15	chr11:74038000-74050400	Weak transcription	Gastric	stomach
16	chr11:74038000-74071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:74038000-74077400	Weak transcription	Psoas Muscle	Psoas
18	chr11:74038000-74077600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:74038000-74084400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:74038200-74047000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:74038200-74049000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:74038200-74050400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:74038200-74052800	Weak transcription	Ovary	ovary
24	chr11:74038200-74053600	Weak transcription	Spleen	Spleen
25	chr11:74038200-74058200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:74038200-74065000	Weak transcription	Aorta	Aorta
27	chr11:74038200-74071000	Weak transcription	Fetal Stomach	stomach
28	chr11:74038200-74071400	Weak transcription	Left Ventricle	heart
29	chr11:74038200-74071400	Weak transcription	Lung	lung
30	chr11:74038200-74082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:74038200-74084400	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:74038400-74051800	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:74038400-74052800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:74038400-74084400	Weak transcription	Liver	Liver
35	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
36	chr11:74038600-74051600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:74038600-74071400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:74038800-74048200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:74038800-74070600	Weak transcription	Fetal Brain Male	brain
40	chr11:74039000-74053000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:74039200-74055200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:74039400-74071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:74039600-74047000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:74039600-74047600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:74039600-74052200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:74039800-74066200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:74040600-74047000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:74040800-74049800	Weak transcription	Thymus	Thymus
49	chr11:74040800-74051400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:74041600-74049800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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