Variant report

Variant	rs7005541
Chromosome Location	chr8:19819447-19819448
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19796366..19798853-chr8:19819344..19821479,2	K562	blood:

Variant related genes	Relation type
ENSG00000175445	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10091085	1.00[EUR][1000 genomes]
rs10092029	1.00[EUR][1000 genomes]
rs10095784	1.00[EUR][1000 genomes]
rs10100420	1.00[AMR][1000 genomes]
rs10100638	1.00[EUR][1000 genomes]
rs10100898	1.00[EUR][1000 genomes]
rs10100904	1.00[EUR][1000 genomes]
rs10109854	1.00[AMR][1000 genomes]
rs10283151	1.00[EUR][1000 genomes]
rs12015247	1.00[AMR][1000 genomes]
rs17091602	1.00[EUR][1000 genomes]
rs17091626	1.00[EUR][1000 genomes]
rs17091629	1.00[EUR][1000 genomes]
rs2083638	1.00[EUR][1000 genomes]
rs259	1.00[AMR][1000 genomes]
rs279	1.00[EUR][1000 genomes]
rs284	1.00[EUR][1000 genomes]
rs28424158	1.00[EUR][1000 genomes]
rs28439839	1.00[EUR][1000 genomes]
rs28514364	1.00[EUR][1000 genomes]
rs28529022	1.00[AMR][1000 genomes]
rs28595414	1.00[EUR][1000 genomes]
rs28599962	1.00[EUR][1000 genomes]
rs28681081	1.00[EUR][1000 genomes]
rs28716400	1.00[EUR][1000 genomes]
rs2898493	1.00[EUR][1000 genomes]
rs290	1.00[EUR][1000 genomes]
rs307	1.00[EUR][1000 genomes]
rs313	1.00[EUR][1000 genomes]
rs55830938	1.00[AMR][1000 genomes]
rs55914530	1.00[EUR][1000 genomes]
rs56193920	1.00[AMR][1000 genomes]
rs57345602	1.00[AMR][1000 genomes]
rs58065180	1.00[AMR][1000 genomes]
rs59184895	1.00[AMR][1000 genomes]
rs61171174	1.00[AMR][1000 genomes]
rs6651484	1.00[EUR][1000 genomes]
rs73667439	1.00[AMR][1000 genomes]
rs73667442	1.00[AMR][1000 genomes]
rs73667443	1.00[EUR][1000 genomes]
rs73667444	1.00[EUR][1000 genomes]
rs73667445	1.00[EUR][1000 genomes]
rs73667448	1.00[AMR][1000 genomes]
rs73667450	1.00[AMR][1000 genomes]
rs73667452	1.00[AMR][1000 genomes]
rs73667456	1.00[AMR][1000 genomes]
rs73667457	1.00[AMR][1000 genomes]
rs73667458	1.00[AMR][1000 genomes]
rs73667460	1.00[AMR][1000 genomes]
rs73667464	1.00[AMR][1000 genomes]
rs73667466	1.00[AMR][1000 genomes]
rs73667467	1.00[AMR][1000 genomes]
rs73667471	1.00[AMR][1000 genomes]
rs73667473	1.00[EUR][1000 genomes]
rs73667474	1.00[EUR][1000 genomes]
rs73667475	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7822582	1.00[EUR][1000 genomes]
rs7833094	1.00[EUR][1000 genomes]
rs7834459	1.00[EUR][1000 genomes]
rs7843393	1.00[EUR][1000 genomes]
rs7845291	1.00[EUR][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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv890632	chr8:19816371-19853146	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:19799800-19819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:19804400-19819600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:19805000-19824800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:19805800-19824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:19806400-19819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:19806800-19819600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:19808800-19819600	Strong transcription	Left Ventricle	heart
10	chr8:19811800-19822400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:19811800-19826000	Weak transcription	Brain Germinal Matrix	brain
12	chr8:19813600-19823000	Weak transcription	Fetal Brain Male	brain
13	chr8:19814200-19820000	Weak transcription	Psoas Muscle	Psoas
14	chr8:19814200-19821600	Weak transcription	Fetal Brain Female	brain
15	chr8:19814800-19822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:19816000-19819600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:19816800-19819600	Weak transcription	Right Ventricle	heart
18	chr8:19817000-19820200	Weak transcription	Lung	lung
19	chr8:19817000-19824800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:19818400-19820400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:19818400-19822800	Strong transcription	Fetal Lung	lung
22	chr8:19818800-19819600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:19819000-19819600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:19819000-19820600	Genic enhancers	Fetal Heart	heart
25	chr8:19819200-19820000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:19819200-19820400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:19819200-19820400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:19819200-19820600	Genic enhancers	Adipose Nuclei	Adipose
29	chr8:19819200-19820800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:19819200-19821000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:19819400-19820200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:19819400-19820200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:19819400-19820400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:19819400-19820400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:19819400-19820400	Enhancers	Brain Anterior Caudate	brain
36	chr8:19819400-19820600	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:19819400-19820600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:19819400-19820600	Strong transcription	Ovary	ovary
39	chr8:19819400-19820800	Enhancers	H9 Cell Line	embryonic stem cell

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