Variant report

Variant	rs7249716
Chromosome Location	chr19:40434436-40434437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10421180	1.00[MEX][hapmap]
rs11882408	1.00[MEX][hapmap]
rs58000341	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7249716	FCGBP	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40418200-40435800	Weak transcription	Brain Anterior Caudate	brain
2	chr19:40420200-40441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:40423400-40435800	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:40430000-40440800	Weak transcription	Primary B cells from cord blood	blood
5	chr19:40431400-40435600	Weak transcription	Adipose Nuclei	Adipose
6	chr19:40432200-40434800	Active TSS	Fetal Intestine Large	intestine
7	chr19:40433200-40440200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:40433400-40438600	Weak transcription	Placenta	Placenta
9	chr19:40433600-40434600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:40433600-40434800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:40433600-40434800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:40433800-40434800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:40434000-40440000	Weak transcription	Stomach Mucosa	stomach
14	chr19:40434000-40440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:40434200-40434600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:40434200-40435000	Active TSS	Fetal Intestine Small	intestine
17	chr19:40434200-40435800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:40434200-40438600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr19:40434200-40440000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:40434200-40440000	Weak transcription	Fetal Stomach	stomach
21	chr19:40434400-40434800	Enhancers	Primary T cells from cord blood	blood
22	chr19:40434400-40435800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:40434400-40437000	Weak transcription	Colonic Mucosa	Colon
24	chr19:40434400-40439200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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