Variant report

Variant	rs7816419
Chromosome Location	chr8:61662294-61662295
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	chr8:61660270..61663422-chr8:61664798..61667143,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11986627	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926387	0.87[ASN][1000 genomes]
rs35914442	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:61648800-61663800	Weak transcription	HUVEC	blood vessel
3	chr8:61649000-61663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:61651600-61664600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:61652000-61663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:61653200-61663400	Weak transcription	Fetal Brain Female	brain
7	chr8:61655000-61664800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:61655000-61665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:61655600-61663400	Weak transcription	Dnd41	blood
10	chr8:61655600-61663800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:61655600-61663800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:61655600-61664000	Weak transcription	HSMMtube	muscle
13	chr8:61655600-61664200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:61655600-61664200	Weak transcription	Spleen	Spleen
15	chr8:61655600-61671400	Weak transcription	Hela-S3	cervix
16	chr8:61655800-61664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:61655800-61664000	Weak transcription	Fetal Kidney	kidney
18	chr8:61655800-61664400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:61655800-61666200	Weak transcription	Lung	lung
20	chr8:61656000-61663400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:61656000-61663600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:61656000-61663800	Weak transcription	GM12878-XiMat	blood
23	chr8:61656000-61664000	Weak transcription	Fetal Stomach	stomach
24	chr8:61656000-61664600	Weak transcription	Fetal Brain Male	brain
25	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
26	chr8:61656200-61664200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:61656800-61663200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:61656800-61663800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:61656800-61664200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:61656800-61664800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:61657000-61663200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:61657000-61663200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:61657000-61663400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:61657000-61663800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:61657000-61664000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:61657000-61664000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:61657000-61664000	Weak transcription	Adipose Nuclei	Adipose
38	chr8:61657000-61664000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:61657000-61664000	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:61657000-61664200	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:61657000-61664200	Weak transcription	Gastric	stomach
42	chr8:61657000-61664200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:61657000-61664400	Weak transcription	HSMM	muscle
44	chr8:61657000-61664600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:61657000-61690400	Weak transcription	HepG2	liver
46	chr8:61657200-61663400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:61657600-61664000	Weak transcription	Right Ventricle	heart
48	chr8:61658200-61664400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:61658400-61662400	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine

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