Variant report

Variant	rs7719748
Chromosome Location	chr5:94966590-94966591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94966091..94968092-chr5:94982916..94985244,2	K562	blood:
2	chr5:94886893..94893129-chr5:94964551..94970811,6	K562	blood:
3	chr5:94966247..94968273-chr5:94969392..94971548,2	MCF-7	breast:
4	chr5:94889263..94893129-chr5:94966214..94970811,5	K562	blood:
5	chr5:94965737..94968208-chr5:94982520..94985192,3	K562	blood:
6	chr5:94965792..94968676-chr5:94971451..94974340,3	K562	blood:
7	chr5:94965792..94967759-chr5:94971451..94974340,2	K562	blood:

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction
ENSG00000198677	Chromatin interaction
ENSG00000164291	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10064488	1.00[MEX][hapmap]
rs11951489	0.87[YRI][hapmap]
rs11951853	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs11953243	1.00[AMR][1000 genomes]
rs17084925	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs17084945	0.87[YRI][hapmap]
rs60323781	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6556873	1.00[MEX][hapmap]
rs6876866	1.00[YRI][hapmap]
rs7703196	1.00[MEX][hapmap]
rs7706030	1.00[ASW][hapmap]
rs7708307	1.00[MEX][hapmap]
rs7710252	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7711473	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9763677	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7719748	FAM118A	trans	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94957800-94967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:94958200-94967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:94959800-94967800	Weak transcription	Pancreas	Pancrea
4	chr5:94960000-94967000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:94961000-94966600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:94961400-94967400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:94963400-94967200	Enhancers	Fetal Intestine Large	intestine
8	chr5:94964800-94967000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:94965400-94966800	Weak transcription	Adipose Nuclei	Adipose
10	chr5:94966000-94967200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:94966000-94968400	Enhancers	HSMMtube	muscle
12	chr5:94966200-94967200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:94966200-94968400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr5:94966200-94968400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:94966200-94968400	Enhancers	Fetal Intestine Small	intestine
16	chr5:94966200-94968600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:94966400-94966600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:94966400-94967200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:94966400-94967200	Enhancers	Osteobl	bone
20	chr5:94966400-94967400	Enhancers	HSMM	muscle
21	chr5:94966400-94968000	Enhancers	Small Intestine	intestine
22	chr5:94966400-94968200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:94966400-94968200	Enhancers	NHLF	lung
24	chr5:94966400-94968400	Enhancers	NHDF-Ad	bronchial

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