Variant report

Variant	rs11546665
Chromosome Location	chr19:36260566-36260567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36070062..36072134-chr19:36260013..36261585,2	K562	blood:
2	chr19:36258097..36260654-chr19:36262475..36265649,5	MCF-7	breast:
3	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11546662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881242	0.87[EUR][1000 genomes]
rs16970649	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17776834	0.88[AMR][1000 genomes]
rs2227278	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2234360	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2234375	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2267585	0.84[EUR][1000 genomes]
rs2267586	0.83[EUR][1000 genomes]
rs231217	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2871893	0.82[EUR][1000 genomes]
rs2871894	0.81[EUR][1000 genomes]
rs34562867	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35297478	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3817622	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3893069	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4580318	0.84[EUR][1000 genomes]
rs4992668	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55955981	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56237993	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56813196	0.91[EUR][1000 genomes]
rs56849855	0.86[AMR][1000 genomes]
rs57180990	0.84[EUR][1000 genomes]
rs58142685	0.88[AMR][1000 genomes]
rs58255615	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58496446	0.84[EUR][1000 genomes]
rs61351824	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61375471	0.84[EUR][1000 genomes]
rs73590543	0.83[AMR][1000 genomes]
rs73590544	0.80[AMR][1000 genomes]
rs73590559	0.86[AMR][1000 genomes]
rs73590564	0.94[AMR][1000 genomes]
rs73590568	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73590576	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73590585	0.91[AMR][1000 genomes]
rs73590591	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73590598	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73592416	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73592448	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73592461	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73592484	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73599271	0.83[EUR][1000 genomes]
rs73599272	0.81[EUR][1000 genomes]
rs73599274	0.81[EUR][1000 genomes]
rs73599279	0.81[EUR][1000 genomes]
rs73599281	0.81[EUR][1000 genomes]
rs73599286	0.84[EUR][1000 genomes]
rs73599289	0.84[EUR][1000 genomes]
rs73600880	0.84[EUR][1000 genomes]
rs73600881	0.84[EUR][1000 genomes]
rs73600885	0.83[EUR][1000 genomes]
rs73600893	0.82[EUR][1000 genomes]
rs73602833	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36249800-36265600	Weak transcription	Right Atrium	heart
2	chr19:36249800-36265800	Weak transcription	Fetal Kidney	kidney
3	chr19:36250000-36265600	Weak transcription	Brain Substantia Nigra	brain
4	chr19:36250200-36265400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:36250400-36265400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:36250400-36265600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:36250400-36265600	Weak transcription	Psoas Muscle	Psoas
8	chr19:36250400-36265800	Weak transcription	Small Intestine	intestine
9	chr19:36250400-36266000	Weak transcription	Aorta	Aorta
10	chr19:36250600-36265400	Weak transcription	Stomach Mucosa	stomach
11	chr19:36250800-36265400	Weak transcription	Brain Angular Gyrus	brain
12	chr19:36250800-36265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:36251000-36263800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:36251000-36265600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:36251000-36265600	Weak transcription	Fetal Brain Male	brain
16	chr19:36251000-36265800	Weak transcription	HUVEC	blood vessel
17	chr19:36251000-36266000	Weak transcription	HSMM	muscle
18	chr19:36251400-36260800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:36251400-36261400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:36251400-36261600	Strong transcription	Thymus	Thymus
21	chr19:36251400-36265600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:36252000-36265600	Weak transcription	NHDF-Ad	bronchial
23	chr19:36252400-36260600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:36253200-36266000	Weak transcription	HSMMtube	muscle
25	chr19:36253400-36262800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:36253400-36265400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:36253400-36265600	Weak transcription	Hela-S3	cervix
28	chr19:36253400-36265600	Weak transcription	NH-A	brain
29	chr19:36253600-36265400	Weak transcription	K562	blood
30	chr19:36253600-36265600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:36254000-36265200	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:36256000-36265400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr19:36256200-36265200	Weak transcription	Colonic Mucosa	Colon
34	chr19:36256200-36265400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:36256200-36265600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:36256200-36265600	Weak transcription	Left Ventricle	heart
37	chr19:36256200-36265800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:36256200-36265800	Weak transcription	GM12878-XiMat	blood
39	chr19:36256200-36266000	Weak transcription	Liver	Liver
40	chr19:36256400-36265600	Weak transcription	Brain Hippocampus Middle	brain
41	chr19:36256400-36265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:36256400-36265600	Weak transcription	NHEK	skin
43	chr19:36257000-36264000	Weak transcription	Fetal Lung	lung
44	chr19:36257000-36265400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:36257000-36265400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:36257000-36265400	Weak transcription	Brain Anterior Caudate	brain
47	chr19:36257000-36265400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:36257000-36265600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:36257200-36263200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:36257200-36265400	Weak transcription	Adipose Nuclei	Adipose

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