Variant report

Variant	rs10769874
Chromosome Location	chr11:8160497-8160498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr11:8160192-8160797	HEK293	kidney:	n/a	n/a
2	SETDB1	chr11:8160355-8160787	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
RIC3	TF binding region

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10431030	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769869	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769873	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769876	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769878	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10839976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10839982	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10839984	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10839985	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10839988	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11041742	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11041757	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041773	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607166	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750955	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4331082	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4340037	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4343012	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4384376	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4397840	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4497397	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7110509	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7941531	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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:48 , 50 per page) page: 1

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	chr11:8155800-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:8156000-8189800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:8156200-8160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:8156400-8163200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:8156600-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:8157200-8160800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:8157200-8160800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:8157200-8161400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:8157200-8162000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:8157400-8160800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:8157800-8160800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:8157800-8162400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:8157800-8162400	Weak transcription	Ovary	ovary
26	chr11:8158000-8161400	Weak transcription	Brain Germinal Matrix	brain
27	chr11:8158000-8161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:8158000-8169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:8158200-8162200	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:8158200-8162400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:8158200-8162400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:8158200-8162400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:8158200-8162400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:8158200-8163200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:8158200-8163600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:8158400-8160600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:8158400-8163400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:8158400-8166800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:8159200-8160600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:8159400-8160600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:8159400-8161000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:8159600-8166800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:8159800-8161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:8160000-8160600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:8160200-8160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:8160200-8160600	Enhancers	HMEC	breast
47	chr11:8160200-8160800	Enhancers	NHEK	skin
48	chr11:8160200-8162400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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