Variant report

Variant	rs2244812
Chromosome Location	chr7:120996240-120996241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120995819..120998464-chr7:121018904..121020746,2	K562	blood:
2	chr7:120994379..120997968-chr7:121032765..121037049,4	K562	blood:
3	chr7:120994398..120996999-chr7:121076063..121078486,2	K562	blood:
4	chr7:120993925..120996278-chr7:120998295..120999894,2	MCF-7	breast:
5	chr7:120986190..120988228-chr7:120994808..120997127,2	K562	blood:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2254595	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2536172	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2536180	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2536182	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2536185	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2536189	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2707466	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2908004	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4727924	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793554	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7807894	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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 target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	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
rs2244812	FAM3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120970600-121016800	Weak transcription	Gastric	stomach
2	chr7:120970600-121025400	Weak transcription	Spleen	Spleen
3	chr7:120970800-121000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:120973800-120998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:120977800-120999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:120978800-121017400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:120979800-121019400	Weak transcription	Thymus	Thymus
8	chr7:120979800-121034800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:120980800-121019600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:120981000-121015200	Weak transcription	Pancreas	Pancrea
11	chr7:120983000-120996600	Weak transcription	Fetal Lung	lung
12	chr7:120983000-121009600	Weak transcription	Hela-S3	cervix
13	chr7:120983800-121000200	Weak transcription	Fetal Kidney	kidney
14	chr7:120984000-121017600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:120984200-121001200	Weak transcription	NHLF	lung
16	chr7:120984200-121009800	Weak transcription	Fetal Brain Male	brain
17	chr7:120984200-121035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:120984800-121009600	Weak transcription	A549	lung
19	chr7:120985000-121001200	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:120985000-121009600	Weak transcription	Small Intestine	intestine
21	chr7:120985200-121000000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:120985200-121013000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:120986200-121029600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:120986400-121026000	Weak transcription	Colonic Mucosa	Colon
25	chr7:120986400-121026000	Weak transcription	Psoas Muscle	Psoas
26	chr7:120987600-120996600	Weak transcription	K562	blood
27	chr7:120987600-121003800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:120989200-120999000	Weak transcription	HepG2	liver
29	chr7:120989200-121015400	Weak transcription	Brain Anterior Caudate	brain
30	chr7:120989600-121016800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:120989800-120996400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:120990400-120998800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:120990400-121002400	Strong transcription	NH-A	brain
34	chr7:120990400-121005000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:120990400-121005200	Strong transcription	Dnd41	blood
36	chr7:120990400-121006000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:120990400-121006200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:120990400-121007000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:120990400-121008600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:120990600-120998000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:120990600-120998000	Strong transcription	Fetal Intestine Large	intestine
42	chr7:120990600-120998200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:120990600-120998800	Strong transcription	Osteobl	bone
44	chr7:120990600-121000000	Strong transcription	NHDF-Ad	bronchial
45	chr7:120990600-121004200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:120990600-121004800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr7:120990600-121005000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:120990600-121006600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:120990600-121008800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:120990600-121009000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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