Variant report

Variant	rs3802969
Chromosome Location	chr11:17821440-17821441
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17820545..17822051-chr11:17823456..17825530,2	K562	blood:
2	chr11:17818302..17822051-chr11:17823456..17827396,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1005008	0.88[EUR][1000 genomes]
rs10160556	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10766440	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10832860	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1236206	0.95[ASN][1000 genomes]
rs1548528	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs2079227	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2158396	0.82[EUR][1000 genomes]
rs2237943	0.86[EUR][1000 genomes]
rs2237944	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs2237946	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2237948	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2237950	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237952	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283250	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283251	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2299634	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3802970	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4757589	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486398	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs7110010	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs718439	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs765989	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs999420	0.83[AFR][1000 genomes];0.87[ASN][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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv526501	chr11:17816412-17824372	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17796800-17828800	Weak transcription	Brain Germinal Matrix	brain
2	chr11:17801600-17821800	Weak transcription	Spleen	Spleen
3	chr11:17802800-17832400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:17805800-17829000	Weak transcription	Fetal Stomach	stomach
5	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
7	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
8	chr11:17808800-17822200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:17808800-17828600	Weak transcription	Fetal Brain Female	brain
10	chr11:17808800-17834600	Weak transcription	Aorta	Aorta
11	chr11:17809000-17833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:17809200-17824800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:17809600-17823600	Weak transcription	HSMMtube	muscle
14	chr11:17810400-17822200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:17810400-17829400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:17811000-17830800	Weak transcription	Primary T cells from cord blood	blood
17	chr11:17814200-17823200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:17815600-17841400	Weak transcription	HepG2	liver
19	chr11:17818600-17843200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:17819200-17823800	Enhancers	Fetal Heart	heart
21	chr11:17819400-17821800	Enhancers	Left Ventricle	heart
22	chr11:17819400-17821800	Enhancers	Psoas Muscle	Psoas
23	chr11:17819400-17821800	Enhancers	Right Ventricle	heart
24	chr11:17820000-17822800	Weak transcription	Fetal Brain Male	brain
25	chr11:17820600-17822400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:17820600-17823800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:17820600-17825200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:17820600-17825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:17820800-17822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:17820800-17822400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:17820800-17832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:17821000-17823400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:17821000-17823600	Weak transcription	NHEK	skin
34	chr11:17821200-17823800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:17821200-17826800	Weak transcription	Right Atrium	heart
36	chr11:17821200-17828200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:17821200-17831800	Weak transcription	Esophagus	oesophagus

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