Variant report

Variant	rs4929922
Chromosome Location	chr11:8975776-8975777
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	chr11:8973666..8975791-chr11:8980074..8981590,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10743093	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10743095	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769967	0.82[JPT][hapmap]
rs10769968	0.80[EUR][1000 genomes]
rs10769970	0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10769971	0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10769973	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10769979	0.85[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769980	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769981	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10840134	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10840141	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10840142	0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10840147	0.87[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840148	0.87[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10840157	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840158	0.87[ASN][1000 genomes]
rs11042078	0.82[JPT][hapmap]
rs11042103	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs11042125	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042149	0.90[GIH][hapmap];0.82[MEX][hapmap]
rs11042151	0.85[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap]
rs11042152	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042154	0.85[CEU][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes]
rs1109305	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1123936	0.90[GIH][hapmap];0.87[MEX][hapmap]
rs1560569	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1569408	0.80[EUR][1000 genomes]
rs1980428	0.90[GIH][hapmap];0.82[MEX][hapmap]
rs1980429	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1984791	0.85[JPT][hapmap]
rs2012680	0.88[ASN][1000 genomes]
rs2012690	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2012696	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016942	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2568020	0.89[ASN][1000 genomes]
rs2568043	0.82[CEU][hapmap]
rs2568045	0.90[GIH][hapmap];0.87[MEX][hapmap]
rs2568061	0.91[MEX][hapmap]
rs2568065	0.91[MEX][hapmap]
rs2568090	0.82[MEX][hapmap]
rs2653570	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]
rs2653605	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]
rs2742471	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2742474	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2742480	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2742540	0.82[MEX][hapmap]
rs2742552	0.87[MEX][hapmap]
rs34842234	0.80[EUR][1000 genomes]
rs4909952	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910062	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs4910119	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4910156	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910157	0.88[ASN][1000 genomes]
rs4910158	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910200	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119939	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7479407	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7482838	0.88[ASN][1000 genomes]
rs7484180	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7925728	0.85[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7930026	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7937298	0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs7945705	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap]

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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4929922	CYB5R2	cis	parietal	SCAN
rs4929922	TRIM22	cis	parietal	SCAN
rs4929922	MMP26	cis	cerebellum	SCAN
rs4929922	OR52A1	cis	parietal	SCAN
rs4929922	TMEM9B-AS1	cis	lung	GTEx
rs4929922	AKIP1	cis	Thyroid	GTEx
rs4929922	C11orf17	cis	multi-tissue	Pritchard
rs4929922	ST5	cis	parietal	SCAN
rs4929922	TMEM9B	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
3	chr11:8952600-8975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:8955200-8976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:8957000-8980800	Weak transcription	Fetal Heart	heart
7	chr11:8963200-8985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:8965800-8984800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:8966400-8984000	Weak transcription	Fetal Brain Male	brain
10	chr11:8966800-8977000	Weak transcription	Esophagus	oesophagus
11	chr11:8966800-8980800	Weak transcription	Small Intestine	intestine
12	chr11:8967400-8975800	Weak transcription	Brain Germinal Matrix	brain
13	chr11:8968000-8978200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:8968000-8978400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:8968200-8980800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:8968200-8985000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:8968400-8978600	Strong transcription	Liver	Liver
18	chr11:8968400-8979000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:8968400-8979200	Strong transcription	Primary B cells from cord blood	blood
20	chr11:8968600-8976200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:8968600-8977800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:8968600-8978000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:8968600-8978000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:8968600-8978800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr11:8968600-8978800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr11:8968600-8979400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:8968600-8981000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:8968800-8976200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:8968800-8978000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:8968800-8978000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:8968800-8978000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:8968800-8978400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:8968800-8978400	Strong transcription	Fetal Intestine Large	intestine
34	chr11:8968800-8978600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:8968800-8978600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:8968800-8978600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:8968800-8978600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:8968800-8978800	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:8968800-8978800	Strong transcription	Placenta	Placenta
40	chr11:8968800-8978800	Strong transcription	Left Ventricle	heart
41	chr11:8968800-8979200	Strong transcription	Adipose Nuclei	Adipose
42	chr11:8968800-8980800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:8969000-8976200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:8969000-8977800	Strong transcription	Fetal Thymus	thymus
45	chr11:8969000-8978000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:8969000-8978000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:8969000-8978600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:8969000-8979200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:8969200-8977600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr11:8969400-8978600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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