Variant report

Variant	rs11588374
Chromosome Location	chr1:10636874-10636875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10864462	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11121582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11121583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11121592	0.82[EUR][1000 genomes]
rs11121595	0.82[AFR][1000 genomes]
rs11580310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11585463	0.90[EUR][1000 genomes]
rs11587326	0.88[EUR][1000 genomes]
rs12063765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12075572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12077637	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12083820	0.96[EUR][1000 genomes]
rs12738718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1411401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34106242	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34697250	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6702343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7552996	0.83[EUR][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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1015079	chr1:10611403-10645176	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1009596	chr1:10626249-10652605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:10606000-10638000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:10607600-10641400	Weak transcription	Lung	lung
8	chr1:10616400-10638200	Weak transcription	Esophagus	oesophagus
9	chr1:10623600-10645600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:10624800-10646000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:10626000-10637800	Weak transcription	Psoas Muscle	Psoas
12	chr1:10626400-10637800	Weak transcription	Liver	Liver
13	chr1:10627800-10641000	Weak transcription	Fetal Stomach	stomach
14	chr1:10627800-10643000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:10628000-10640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:10628000-10650200	Weak transcription	Fetal Lung	lung
17	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:10628800-10651200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:10629600-10639000	Weak transcription	Right Ventricle	heart
20	chr1:10629800-10638000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:10629800-10643600	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:10630000-10638800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:10630800-10638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:10635200-10637000	Weak transcription	Fetal Thymus	thymus
28	chr1:10635200-10638000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:10635200-10638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:10635200-10638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:10635200-10639000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:10635400-10637000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:10635600-10638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:10635600-10638800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:10635600-10639600	Weak transcription	Placenta	Placenta
36	chr1:10635800-10650800	Weak transcription	HSMMtube	muscle
37	chr1:10636000-10639000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:10636000-10639000	Weak transcription	Osteobl	bone
39	chr1:10636000-10650600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:10636200-10637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:10636200-10638000	Weak transcription	A549	lung
42	chr1:10636200-10638000	Weak transcription	HSMM	muscle
43	chr1:10636200-10655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:10636200-10656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:10636400-10639000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:10636400-10656200	Weak transcription	NHEK	skin
47	chr1:10636600-10638600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:10636600-10639200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:10636600-10658000	Weak transcription	Spleen	Spleen
50	chr1:10636800-10637400	Strong transcription	Fetal Intestine Small	intestine

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