Variant report

Variant	rs73926983
Chromosome Location	chr2:47165638-47165639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:47165560-47165710	AG09319	gingival:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47164600..47167090-chr2:47190950..47193614,2	K562	blood:
2	chr2:47165446..47170208-chr2:47173646..47177856,9	MCF-7	breast:
3	chr2:47163957..47166011-chr2:47167875..47170723,3	K562	blood:
4	chr2:47139886..47146981-chr2:47165365..47170438,17	MCF-7	breast:
5	chr2:47152234..47154718-chr2:47163994..47166479,3	MCF-7	breast:
6	chr2:47142704..47145224-chr2:47163492..47166799,3	K562	blood:

No data

Variant related genes	Relation type
TTC7A	TF binding region
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10084332	0.95[EUR][1000 genomes]
rs10164756	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10165085	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10186980	0.81[EUR][1000 genomes]
rs11897050	0.95[EUR][1000 genomes]
rs13391660	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13398748	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13406024	0.95[EUR][1000 genomes]
rs13407588	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13409489	0.98[EUR][1000 genomes]
rs13417753	0.95[EUR][1000 genomes]
rs13424086	0.83[EUR][1000 genomes]
rs13430346	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13430703	0.98[EUR][1000 genomes]
rs17035878	0.83[EUR][1000 genomes]
rs17035912	1.00[EUR][1000 genomes]
rs28405928	0.83[EUR][1000 genomes]
rs28465613	0.81[EUR][1000 genomes]
rs28529158	0.95[EUR][1000 genomes]
rs28612371	0.95[EUR][1000 genomes]
rs28770495	0.83[EUR][1000 genomes]
rs4300885	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4314044	0.98[EUR][1000 genomes]
rs4583513	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6729569	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6755386	0.98[EUR][1000 genomes]
rs73926967	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926970	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926978	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926980	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926986	1.00[EUR][1000 genomes]
rs73926988	1.00[EUR][1000 genomes]
rs7577816	1.00[EUR][1000 genomes]
rs7603884	1.00[EUR][1000 genomes]
rs9973769	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73926983	MCFD2	cis	Artery Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
2	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
3	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
7	chr2:47153800-47166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:47154000-47166400	Weak transcription	Hela-S3	cervix
9	chr2:47154400-47166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:47155800-47166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:47157200-47166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:47157400-47166600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:47160000-47167200	Weak transcription	Fetal Stomach	stomach
14	chr2:47160600-47166800	Weak transcription	GM12878-XiMat	blood
15	chr2:47161600-47166600	Weak transcription	Primary B cells from cord blood	blood
16	chr2:47161600-47166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:47161600-47166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:47161600-47166800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:47162400-47166800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:47163800-47166400	Weak transcription	Osteobl	bone
21	chr2:47164000-47166600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:47164400-47166800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:47164800-47166000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:47165000-47166400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:47165000-47166400	Weak transcription	Fetal Thymus	thymus
26	chr2:47165000-47166400	Weak transcription	Thymus	Thymus
27	chr2:47165000-47166400	Weak transcription	HepG2	liver
28	chr2:47165000-47166600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:47165000-47166600	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:47165000-47166600	Weak transcription	Spleen	Spleen
31	chr2:47165200-47166400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:47165200-47166400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:47165200-47166400	Weak transcription	A549	lung
34	chr2:47165200-47166400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:47165400-47166400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:47165400-47167000	Weak transcription	Right Atrium	heart

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