Variant report

Variant	rs7831069
Chromosome Location	chr8:42691008-42691009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42690843..42692420-chr8:42694647..42697217,2	MCF-7	breast:
2	chr8:42690461..42692574-chr8:42695990..42698767,2	K562	blood:
3	chr8:42688180..42692034-chr8:42697379..42699248,3	MCF-7	breast:
4	chr8:42690762..42694163-chr8:42697373..42699760,3	MCF-7	breast:
5	chr8:42685435..42688953-chr8:42689231..42695334,5	K562	blood:

Variant related genes	Relation type
ENSG00000131931	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10087388	0.92[ASN][1000 genomes]
rs10107916	0.97[ASN][1000 genomes]
rs1081885	0.82[ASN][1000 genomes]
rs1081886	0.85[ASN][1000 genomes]
rs1625050	0.85[ASN][1000 genomes]
rs2692077	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28539345	0.92[ASN][1000 genomes]
rs6986338	0.92[ASN][1000 genomes]
rs773069	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs773070	0.87[ASN][1000 genomes]
rs773071	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs773072	0.85[ASN][1000 genomes]
rs7812948	0.92[ASN][1000 genomes]
rs7835435	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839894	0.86[ASN][1000 genomes]
rs7841772	0.80[AMR][1000 genomes]
rs7841832	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7831069	FNTA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42670000-42697400	Weak transcription	Right Ventricle	heart
2	chr8:42678400-42696600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:42679600-42697400	Weak transcription	Aorta	Aorta
4	chr8:42681000-42693200	Weak transcription	HepG2	liver
5	chr8:42684200-42696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:42686000-42693200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:42686800-42692800	Weak transcription	Left Ventricle	heart
8	chr8:42686800-42694200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:42686800-42696800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:42687000-42691600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:42687000-42691800	Weak transcription	HSMM	muscle
12	chr8:42687000-42692000	Weak transcription	A549	lung
13	chr8:42687000-42693000	Weak transcription	Thymus	Thymus
14	chr8:42687000-42694800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:42687000-42696600	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:42687200-42692000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:42687200-42692000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:42687200-42693200	Weak transcription	Ovary	ovary
19	chr8:42687200-42695000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:42687200-42695200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:42687200-42696400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:42687200-42696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:42687400-42691600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:42687600-42696400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:42688000-42692000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:42688200-42694800	Weak transcription	Pancreas	Pancrea
27	chr8:42688200-42696800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:42688400-42691600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:42688400-42694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:42688600-42691400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:42688600-42692000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:42688600-42697600	Weak transcription	Spleen	Spleen
33	chr8:42688800-42691200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:42688800-42693200	Weak transcription	Fetal Stomach	stomach
35	chr8:42688800-42696600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:42688800-42697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:42689000-42691400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:42689000-42691600	Weak transcription	Primary B cells from cord blood	blood
39	chr8:42689000-42691600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:42689000-42691600	Weak transcription	Liver	Liver
41	chr8:42689000-42691600	Weak transcription	Fetal Lung	lung
42	chr8:42689000-42691800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:42689000-42692000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:42689200-42691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:42689200-42691600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:42689200-42691800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:42689200-42691800	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:42689200-42691800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:42689200-42691800	Weak transcription	NH-A	brain
50	chr8:42689200-42692000	Weak transcription	Osteobl	bone

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