Variant report

Variant	rs2445549
Chromosome Location	chr11:86816526-86816527
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86809033..86811037-chr11:86814602..86817030,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10792903	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs186198	1.00[YRI][hapmap]
rs2124579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2124581	0.86[MEX][hapmap]
rs2374996	0.80[EUR][1000 genomes]
rs2445538	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2445543	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445552	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445558	0.94[ASN][1000 genomes]
rs2445564	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445565	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2445570	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445581	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2445587	0.82[JPT][hapmap]
rs2451066	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512327	0.86[MEX][hapmap]
rs2512335	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512347	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2512352	0.86[MEX][hapmap]
rs2512353	0.86[MEX][hapmap]
rs2512361	0.81[JPT][hapmap]
rs2512370	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2512379	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512382	0.86[MEX][hapmap]
rs2512390	0.86[MEX][hapmap]
rs2512392	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512478	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap]
rs2512486	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2512488	0.86[MEX][hapmap]
rs2512493	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2512502	0.91[JPT][hapmap];0.81[MEX][hapmap];0.89[YRI][hapmap]
rs2513206	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2513207	0.86[MEX][hapmap]
rs2513208	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513219	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513220	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513225	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513232	0.83[JPT][hapmap]
rs2513234	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3740659	0.91[JPT][hapmap];0.81[MEX][hapmap];0.89[YRI][hapmap]
rs564932	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs7481222	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs965467	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs989689	0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv468776	chr11:86788716-86826422	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv555706	chr11:86788716-86826422	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2445549	TMEM135	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86787400-86819600	Weak transcription	NH-A	brain
2	chr11:86787600-86825200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:86787800-86817400	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:86787800-86819400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:86788200-86817800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:86788200-86824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:86788200-86830400	Weak transcription	Right Ventricle	heart
8	chr11:86788600-86836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:86798000-86820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:86798200-86817800	Weak transcription	Fetal Thymus	thymus
11	chr11:86798400-86821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:86799400-86817800	Weak transcription	Psoas Muscle	Psoas
13	chr11:86799600-86821000	Weak transcription	Primary B cells from cord blood	blood
14	chr11:86801600-86817800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:86803600-86817800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:86803600-86817800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:86804400-86824800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:86804600-86817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:86804600-86824600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:86804600-86839400	Weak transcription	Fetal Kidney	kidney
21	chr11:86804800-86817800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:86805000-86818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:86806800-86817800	Weak transcription	Aorta	Aorta
24	chr11:86806800-86829600	Weak transcription	Primary T cells from cord blood	blood
25	chr11:86806800-86835800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:86808800-86817800	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:86808800-86819400	Weak transcription	Dnd41	blood
28	chr11:86808800-86819600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:86808800-86824600	Weak transcription	Adipose Nuclei	Adipose
30	chr11:86809000-86817800	Weak transcription	Gastric	stomach
31	chr11:86809000-86819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:86809000-86819400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:86809000-86819600	Weak transcription	Stomach Mucosa	stomach
34	chr11:86809000-86844000	Weak transcription	Ovary	ovary
35	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
36	chr11:86809200-86818000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:86809400-86817800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:86809400-86819800	Weak transcription	Liver	Liver
39	chr11:86809400-86825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:86809600-86817800	Weak transcription	Fetal Intestine Small	intestine
41	chr11:86810600-86816600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:86813400-86818000	Weak transcription	K562	blood
43	chr11:86813600-86817800	Weak transcription	Fetal Lung	lung
44	chr11:86813600-86819400	Weak transcription	HepG2	liver
45	chr11:86813600-86819800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:86813600-86825000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:86814000-86817800	Weak transcription	Spleen	Spleen
48	chr11:86814400-86816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:86814800-86817800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:86815800-86816600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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