Variant report

Variant	rs73411617
Chromosome Location	chr11:8159843-8159844
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	chr11:8150897..8153800-chr11:8158200..8159860,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11041744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041745	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041755	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041769	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041770	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041771	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041777	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12360649	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12362369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17847552	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17847553	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17847554	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56740207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58706265	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59934287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409635	0.83[ASN][1000 genomes]
rs73409661	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73411659	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945726	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7946652	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8126400-8160600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:8128800-8162600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:8132600-8160800	Weak transcription	Esophagus	oesophagus
4	chr11:8132600-8172200	Weak transcription	Pancreas	Pancrea
5	chr11:8133600-8162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:8148400-8169200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:8148800-8170200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:8149400-8162200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:8149800-8179600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:8150800-8162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:8152200-8162400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:8155200-8166800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:8155400-8160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:8155800-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:8156000-8189800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:8156200-8160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:8156400-8163200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:8156600-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:8157200-8160800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:8157200-8160800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:8157200-8161400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:8157200-8162000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:8157400-8160800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:8157800-8160800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:8157800-8162400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:8157800-8162400	Weak transcription	Ovary	ovary
27	chr11:8158000-8161400	Weak transcription	Brain Germinal Matrix	brain
28	chr11:8158000-8161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:8158000-8169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:8158200-8160200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:8158200-8162200	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:8158200-8162400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:8158200-8162400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:8158200-8162400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:8158200-8162400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:8158200-8163200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:8158200-8163600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:8158400-8160000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:8158400-8160600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:8158400-8163400	Weak transcription	Brain Angular Gyrus	brain
41	chr11:8158400-8166800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:8159200-8160200	Flanking Active TSS	HMEC	breast
43	chr11:8159200-8160600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:8159400-8160200	Flanking Active TSS	NHEK	skin
45	chr11:8159400-8160600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:8159400-8161000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:8159600-8160200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:8159600-8166800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:8159800-8160000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:8159800-8160200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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