Variant report

Variant	rs6665058
Chromosome Location	chr1:95177368-95177369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10874885	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165226	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11582204	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12406332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245477	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532250	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532251	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532252	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640061	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640062	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640063	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802097	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802098	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802099	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802100	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802101	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802102	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802103	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2933916	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2933917	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2997377	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34670167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847346	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4847348	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs841329	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871916	chr1:95143999-95189230	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1001043	chr1:95158042-95185906	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6665058	FAM69A	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:95168200-95178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:95168200-95179600	Weak transcription	Placenta	Placenta
4	chr1:95168200-95179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
6	chr1:95168400-95178400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:95168400-95179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon
9	chr1:95172000-95179000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:95173200-95178600	Weak transcription	A549	lung
11	chr1:95173400-95179000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:95173400-95179000	Weak transcription	Ovary	ovary
13	chr1:95173400-95179000	Weak transcription	Osteobl	bone
14	chr1:95173400-95179200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:95173400-95179200	Weak transcription	HSMMtube	muscle
16	chr1:95173400-95200600	Weak transcription	Right Atrium	heart
17	chr1:95173600-95178600	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:95174600-95177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:95174600-95178200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:95174600-95178600	Weak transcription	Fetal Intestine Large	intestine
21	chr1:95174600-95178800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:95174600-95186000	Weak transcription	Fetal Thymus	thymus
23	chr1:95174800-95177400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:95174800-95178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:95174800-95178400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:95175000-95178400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:95175000-95178600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:95175000-95178800	Strong transcription	Fetal Intestine Small	intestine
29	chr1:95175000-95179800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:95175600-95178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:95175600-95179200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:95175800-95178400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:95175800-95178800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:95175800-95179400	Weak transcription	Lung	lung
35	chr1:95175800-95185400	Weak transcription	Spleen	Spleen
36	chr1:95175800-95192600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:95175800-95193000	Weak transcription	Fetal Stomach	stomach
38	chr1:95176000-95178200	Weak transcription	NHEK	skin
39	chr1:95176000-95179000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:95176000-95179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:95176200-95178400	Weak transcription	NHLF	lung
42	chr1:95176200-95178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:95176200-95178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:95176200-95178800	Weak transcription	HMEC	breast
45	chr1:95176200-95178800	Weak transcription	HSMM	muscle
46	chr1:95176200-95189200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:95176400-95178200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:95176400-95178800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:95176400-95178800	Weak transcription	HepG2	liver
50	chr1:95176400-95179200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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