Variant report

Variant	rs60329942
Chromosome Location	chr8:19680259-19680260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19678232..19681276-chr8:19686891..19689465,3	K562	blood:

Variant related genes	Relation type
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17091534	0.85[EUR][1000 genomes]
rs3213914	0.81[ASN][1000 genomes]
rs3899017	0.81[EUR][1000 genomes]
rs57462676	0.83[EUR][1000 genomes]
rs57837509	0.82[EUR][1000 genomes]
rs59259846	0.82[EUR][1000 genomes]
rs59565447	0.81[EUR][1000 genomes]
rs61180388	0.83[EUR][1000 genomes]
rs62496731	0.84[EUR][1000 genomes]
rs67989257	0.84[EUR][1000 genomes]
rs6993525	0.80[EUR][1000 genomes]
rs7012358	0.84[EUR][1000 genomes]
rs7461774	0.81[EUR][1000 genomes]
rs7819535	0.80[ASN][1000 genomes]
rs7835372	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19676000-19681000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:19676000-19683800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19676000-19689600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:19676000-19699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:19676400-19680400	Weak transcription	Small Intestine	intestine
7	chr8:19676400-19680600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:19676400-19680600	Weak transcription	Fetal Brain Male	brain
9	chr8:19676400-19683800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:19676400-19684600	Weak transcription	Right Ventricle	heart
11	chr8:19676400-19689600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:19676600-19681000	Weak transcription	Fetal Heart	heart
13	chr8:19676600-19705800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:19676600-19707200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:19676600-19707800	Strong transcription	Osteobl	bone
16	chr8:19676800-19682600	Strong transcription	Fetal Lung	lung
17	chr8:19676800-19685000	Strong transcription	K562	blood
18	chr8:19676800-19685200	Strong transcription	HMEC	breast
19	chr8:19676800-19686800	Strong transcription	Hela-S3	cervix
20	chr8:19676800-19702400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:19676800-19707400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:19677000-19683000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:19677000-19686800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:19677000-19694800	Strong transcription	Fetal Muscle Leg	muscle
25	chr8:19677000-19700400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr8:19677000-19701200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:19677000-19703800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:19677000-19706200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:19677000-19706800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:19677000-19707000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr8:19677000-19710600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:19677200-19682400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:19677200-19682400	Strong transcription	NHLF	lung
34	chr8:19677200-19682600	Strong transcription	NHDF-Ad	bronchial
35	chr8:19677200-19682800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:19677200-19682800	Strong transcription	Fetal Intestine Large	intestine
37	chr8:19677200-19682800	Strong transcription	HUVEC	blood vessel
38	chr8:19677200-19683000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr8:19677200-19683000	Strong transcription	HSMM	muscle
40	chr8:19677200-19684800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:19677200-19684800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:19677200-19685200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:19677200-19687600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:19677200-19697400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr8:19677200-19697600	Strong transcription	Brain Anterior Caudate	brain
46	chr8:19677200-19700600	Strong transcription	Primary B cells from cord blood	blood
47	chr8:19677200-19700600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:19677200-19701000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:19677200-19703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:19677200-19703800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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