Variant report

Variant	rs11669649
Chromosome Location	chr19:21122691-21122692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10454112	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10454113	0.97[EUR][1000 genomes]
rs10454114	0.97[EUR][1000 genomes]
rs10454115	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1054688	1.00[ASN][1000 genomes]
rs11085402	0.89[EUR][1000 genomes]
rs11085405	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11085406	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11085407	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11085409	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11085410	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11085411	0.86[EUR][1000 genomes]
rs11085412	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11085413	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11085414	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11085415	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11085416	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11665978	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11665995	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11666247	0.89[EUR][1000 genomes]
rs11666887	0.92[EUR][1000 genomes]
rs11667715	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11668256	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11668779	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669114	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11669186	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669193	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11669194	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11669264	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11670246	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11670688	0.91[EUR][1000 genomes]
rs11670696	0.91[EUR][1000 genomes]
rs11672610	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11673251	0.89[EUR][1000 genomes]
rs11673298	0.89[EUR][1000 genomes]
rs11673334	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11879021	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882306	0.87[EUR][1000 genomes]
rs11882679	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11883175	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11883215	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11883317	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12162257	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12162258	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17679995	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2545225	0.83[EUR][1000 genomes]
rs34492986	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35709943	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35717492	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35818717	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35959824	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4327182	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637671	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55715113	0.96[EUR][1000 genomes]
rs55718523	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55721150	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55840212	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55844489	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55848071	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55892094	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55952992	0.89[EUR][1000 genomes]
rs55988249	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55997215	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56004027	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56037237	0.89[EUR][1000 genomes]
rs56094670	0.91[EUR][1000 genomes]
rs56137123	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56137836	0.85[EUR][1000 genomes]
rs56170000	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56204435	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56207286	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56210506	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56216536	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56231962	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56240903	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56274621	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56280451	0.89[EUR][1000 genomes]
rs56321708	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56339351	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56356813	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56373736	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56393308	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56405080	0.89[EUR][1000 genomes]
rs7253466	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260618	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003406	0.91[EUR][1000 genomes]
rs73003409	0.91[EUR][1000 genomes]
rs73003412	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003418	0.89[EUR][1000 genomes]
rs73003491	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003496	0.91[EUR][1000 genomes]
rs73005085	0.83[EUR][1000 genomes]
rs73005103	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73005106	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73005114	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73005122	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73005134	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73007028	0.83[EUR][1000 genomes]
rs73007055	0.87[EUR][1000 genomes]
rs73007056	0.87[EUR][1000 genomes]
rs73007061	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007063	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007067	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007070	0.87[EUR][1000 genomes]
rs73007376	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73017144	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73020056	0.89[EUR][1000 genomes]
rs73020057	0.89[EUR][1000 genomes]
rs73020059	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73020060	0.89[EUR][1000 genomes]
rs73020063	0.89[EUR][1000 genomes]
rs73021506	0.88[EUR][1000 genomes]
rs73021507	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73021512	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73021513	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73021516	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73021542	0.93[EUR][1000 genomes]
rs73021543	0.93[EUR][1000 genomes]
rs73021544	0.93[EUR][1000 genomes]
rs73021545	0.93[EUR][1000 genomes]
rs73021546	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73021547	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1063954	chr19:21000562-21177577	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv578946	chr19:21014403-21151796	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1067455	chr19:21053665-21141787	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv1066170	chr19:21114796-21142630	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11669649	ZNF85	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21106600-21129800	Weak transcription	Stomach Mucosa	stomach
2	chr19:21106800-21125600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:21106800-21128200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:21106800-21131000	Weak transcription	Gastric	stomach
5	chr19:21107000-21123000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:21107000-21124000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:21107000-21125800	Weak transcription	Psoas Muscle	Psoas
8	chr19:21107000-21128000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr19:21107000-21133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:21107200-21123000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:21107200-21124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:21107200-21125400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:21107200-21127200	Weak transcription	Brain Angular Gyrus	brain
14	chr19:21107200-21127400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:21107200-21132600	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:21107200-21133800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:21107400-21125600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:21107400-21125600	Weak transcription	HUVEC	blood vessel
19	chr19:21107400-21128000	Weak transcription	NHDF-Ad	bronchial
20	chr19:21107400-21131600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:21107600-21127000	Weak transcription	Fetal Kidney	kidney
22	chr19:21107600-21133400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:21111800-21131000	Weak transcription	NH-A	brain
24	chr19:21112600-21124400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:21113600-21127200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:21113800-21126000	Strong transcription	Dnd41	blood
27	chr19:21114400-21132800	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:21114800-21125600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:21116000-21126200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:21116600-21133400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:21116800-21126600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:21117000-21124400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:21117600-21126600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:21117800-21122800	Strong transcription	Primary T cells from cord blood	blood
35	chr19:21117800-21128400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr19:21118000-21127200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr19:21118200-21123000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:21118200-21125400	Weak transcription	Osteobl	bone
39	chr19:21118200-21125600	Weak transcription	Placenta	Placenta
40	chr19:21118400-21125000	Weak transcription	Fetal Lung	lung
41	chr19:21118400-21131600	Weak transcription	Fetal Thymus	thymus
42	chr19:21118800-21123200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:21118800-21125000	Weak transcription	Fetal Brain Male	brain
44	chr19:21119000-21124400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:21119200-21129200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:21119600-21125600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:21120000-21123600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:21120000-21133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:21120400-21123000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:21120400-21124200	Strong transcription	HSMM	muscle

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