Variant report

Variant	rs17371561
Chromosome Location	chr1:92981239-92981240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92977725..92979355-chr1:92980937..92983105,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17380378	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34324830	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35846792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71650498	1.00[AFR][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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17371561	FAM69A	cis	Artery Tibial	GTEx
rs17371561	FAM69A	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92967800-92986000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:92968200-93042800	Weak transcription	HSMM	muscle
4	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:92969600-92984200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:92969800-92996800	Weak transcription	NH-A	brain
8	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:92970600-92981800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:92972600-93013400	Weak transcription	Ovary	ovary
12	chr1:92973000-92983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:92973400-92987400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
16	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
17	chr1:92977400-92993200	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:92977600-92995000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:92977600-92995800	Weak transcription	Right Ventricle	heart
20	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:92977800-92986800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:92977800-92987400	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:92977800-92995000	Weak transcription	Lung	lung
25	chr1:92978000-92982800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:92978000-92995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:92978600-92982200	Strong transcription	Liver	Liver
28	chr1:92978800-92991600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:92979400-92982200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:92979600-92992600	Weak transcription	Left Ventricle	heart
31	chr1:92979600-92993000	Weak transcription	Placenta	Placenta
32	chr1:92979600-93002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:92980400-92982200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:92980400-92982600	Enhancers	Dnd41	blood
35	chr1:92980600-92982600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:92980600-92983200	Weak transcription	Fetal Lung	lung
37	chr1:92981000-92982600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:92981200-92981600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:92981200-92982400	Enhancers	Primary monocytes fromperipheralblood	blood

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