Variant report

Variant	rs73545769
Chromosome Location	chr8:11651164-11651165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11650636..11652578-chr8:11653838..11655597,2	K562	blood:
2	chr8:11650546..11652103-chr8:11660021..11661839,2	MCF-7	breast:
3	chr8:11644178..11646906-chr8:11648968..11651779,2	K562	blood:
4	chr8:11643528..11645314-chr8:11650082..11652912,2	MCF-7	breast:
5	chr8:11649932..11653064-chr8:11653128..11655366,3	K562	blood:
6	chr8:11648977..11652066-chr8:11653536..11656484,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17573	1.00[AMR][1000 genomes]
rs2230070	1.00[AMR][1000 genomes]
rs58313162	1.00[AMR][1000 genomes]
rs61141262	1.00[AMR][1000 genomes]
rs6981167	1.00[AMR][1000 genomes]
rs6996115	1.00[AMR][1000 genomes]
rs6998335	1.00[AMR][1000 genomes]
rs73534705	1.00[AMR][1000 genomes]
rs73534706	1.00[AMR][1000 genomes]
rs73535986	1.00[AMR][1000 genomes]
rs73535989	1.00[AMR][1000 genomes]
rs73535993	1.00[AMR][1000 genomes]
rs73537868	1.00[AMR][1000 genomes]
rs73545763	1.00[AMR][1000 genomes]
rs7818491	1.00[AMR][1000 genomes]
rs7823403	1.00[AMR][1000 genomes]
rs7824489	1.00[AMR][1000 genomes]
rs7837707	1.00[AMR][1000 genomes]
rs8191524	1.00[AMR][1000 genomes]
rs8191532	1.00[AMR][1000 genomes]
rs8191533	1.00[AMR][1000 genomes]
rs8191580	1.00[AMR][1000 genomes]
rs8191628	1.00[AMR][1000 genomes]
rs8191653	1.00[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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
3	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
4	chr8:11640800-11658600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:11641000-11658000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:11641000-11659600	Weak transcription	Right Atrium	heart
7	chr8:11641200-11658400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:11641200-11659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:11641600-11653600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:11641800-11653200	Weak transcription	Stomach Mucosa	stomach
11	chr8:11642000-11654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:11642200-11653000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:11642600-11652800	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:11643000-11653000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:11643400-11653000	Weak transcription	Fetal Kidney	kidney
16	chr8:11643400-11653000	Weak transcription	HSMM	muscle
17	chr8:11643600-11658200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:11643800-11653000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:11643800-11653800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:11643800-11654000	Weak transcription	GM12878-XiMat	blood
21	chr8:11643800-11654400	Weak transcription	Gastric	stomach
22	chr8:11643800-11659400	Weak transcription	Brain Angular Gyrus	brain
23	chr8:11643800-11659600	Weak transcription	Aorta	Aorta
24	chr8:11644000-11653000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:11644200-11653000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:11644200-11653200	Weak transcription	Colonic Mucosa	Colon
27	chr8:11644200-11658400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:11644400-11653000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:11644400-11659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:11644600-11653000	Weak transcription	Placenta	Placenta
31	chr8:11644600-11654600	Weak transcription	Lung	lung
32	chr8:11644600-11654600	Weak transcription	Spleen	Spleen
33	chr8:11644600-11659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:11644800-11654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:11644800-11659000	Weak transcription	Primary T cells from cord blood	blood
36	chr8:11645000-11654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:11645000-11658600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:11645200-11654400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:11645600-11652800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:11645600-11653000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:11645600-11653000	Weak transcription	HSMMtube	muscle
42	chr8:11645600-11653600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:11645600-11654800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:11645600-11658200	Weak transcription	Primary B cells from cord blood	blood
45	chr8:11645800-11653000	Weak transcription	Fetal Intestine Small	intestine
46	chr8:11645800-11653000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:11645800-11654000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:11645800-11654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:11645800-11654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:11645800-11654400	Weak transcription	Dnd41	blood

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