Variant report

Variant	rs11804321
Chromosome Location	chr1:93009313-93009314
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	chr1:93008775..93011605-chr1:93017435..93019676,2	K562	blood:
2	chr1:92987883..92989891-chr1:93008621..93010399,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11577426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11578004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11578098	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11581176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11588044	1.00[CHB][hapmap]
rs11588509	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588545	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11589122	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11591094	0.85[ASN][1000 genomes]
rs11800409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11800771	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11800848	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11801763	0.88[YRI][hapmap]
rs11803097	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11805007	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11807962	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11808092	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11809055	0.85[ASN][1000 genomes]
rs11810217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12407622	1.00[CHB][hapmap]
rs12731107	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12733238	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12738833	1.00[YRI][hapmap]
rs12743005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12743520	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12749786	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12755781	1.00[CHB][hapmap]
rs12756786	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12757533	1.00[CHB][hapmap]
rs1333743	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1415296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17519972	1.00[CHB][hapmap]
rs2391158	1.00[CHB][hapmap]
rs34202284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34221961	1.00[ASN][1000 genomes]
rs34231012	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34734076	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34812295	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs36114576	0.85[ASN][1000 genomes]
rs3790450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41286801	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41313373	0.85[ASN][1000 genomes]
rs4642892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4949888	1.00[CHB][hapmap]
rs56044027	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56307974	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406332	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660889	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6689470	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6697978	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67026262	0.85[ASN][1000 genomes]
rs67646822	0.85[ASN][1000 genomes]
rs67876779	0.85[ASN][1000 genomes]
rs68160001	0.85[ASN][1000 genomes]
rs72722469	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722475	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722484	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722498	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724515	1.00[ASN][1000 genomes]
rs72724555	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11804321	EVI5	cis	multi-tissue	Pritchard

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92972600-93013400	Weak transcription	Ovary	ovary
3	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
4	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:92981800-93033400	Weak transcription	NHEK	skin
7	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
8	chr1:92994600-93066000	Weak transcription	Placenta	Placenta
9	chr1:92999400-93016600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:93001400-93024200	Weak transcription	Psoas Muscle	Psoas
11	chr1:93004400-93010400	Weak transcription	Gastric	stomach
12	chr1:93004400-93012400	Weak transcription	Fetal Kidney	kidney
13	chr1:93004400-93012600	Weak transcription	Fetal Intestine Large	intestine
14	chr1:93004400-93022200	Weak transcription	Pancreas	Pancrea
15	chr1:93004400-93028400	Weak transcription	Primary B cells from cord blood	blood
16	chr1:93004400-93032400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:93004400-93033000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:93004400-93042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:93004400-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:93004400-93070000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:93005000-93010200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:93005000-93010400	Weak transcription	Small Intestine	intestine
23	chr1:93005000-93021600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:93007000-93014000	Weak transcription	Aorta	Aorta
25	chr1:93007400-93021400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:93007600-93009400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:93007600-93011200	Weak transcription	HSMMtube	muscle
28	chr1:93007800-93042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:93008400-93009600	Strong transcription	Liver	Liver
30	chr1:93008400-93010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:93008600-93010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:93008800-93010600	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:93008800-93010600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:93008800-93012000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:93009000-93009800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:93009000-93010200	Weak transcription	Left Ventricle	heart
37	chr1:93009000-93011000	Enhancers	K562	blood
38	chr1:93009200-93009400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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