Variant report

Variant	rs12718597
Chromosome Location	chr7:50428428-50428429
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50426635..50429752-chr7:50434176..50438226,4	K562	blood:
2	chr7:50428041..50429673-chr7:50431471..50433374,2	K562	blood:
3	chr7:50341852..50344681-chr7:50426443..50428898,2	K562	blood:
4	chr7:50242427..50244729-chr7:50426568..50428681,2	K562	blood:

Variant related genes	Relation type
ENSG00000185811	Chromatin interaction
ENSG00000231681	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12534526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12669559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12718730	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12718731	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12718785	0.91[ASN][1000 genomes]
rs7385935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Mean corpuscular volume	19862010	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12718597	FIGNL1	cis	lung	GTEx
rs12718597	FIGNL1	cis	Thyroid	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50411000-50433000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:50411200-50433000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:50416800-50430400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:50416800-50440000	Weak transcription	Gastric	stomach
5	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:50420800-50431800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr7:50421200-50429800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:50421200-50431000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:50421400-50430600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr7:50425000-50432400	Genic enhancers	Primary hematopoietic stem cells	blood
12	chr7:50426000-50430600	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:50427000-50428600	Strong transcription	GM12878-XiMat	blood
14	chr7:50427000-50431000	Genic enhancers	Primary B cells from cord blood	blood
15	chr7:50427200-50428600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:50427200-50429000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:50427200-50429800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:50427200-50431400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr7:50427400-50428600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:50427400-50428800	Transcr. at gene 5' and 3'	Thymus	Thymus
21	chr7:50427400-50432800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:50427600-50428600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:50427600-50429000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:50427600-50432400	Weak transcription	Esophagus	oesophagus
25	chr7:50427600-50437000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:50427800-50428600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:50427800-50428600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:50427800-50428600	Enhancers	Right Atrium	heart
29	chr7:50427800-50428600	Flanking Active TSS	Dnd41	blood
30	chr7:50427800-50437000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:50428000-50429000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:50428000-50429800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:50428000-50433000	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr7:50428200-50428600	Genic enhancers	Primary T cells from cord blood	blood
35	chr7:50428200-50428600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr7:50428200-50428600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:50428200-50428800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:50428200-50429800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:50428200-50429800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:50428200-50430000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:50428200-50441800	Genic enhancers	Fetal Thymus	thymus
42	chr7:50428400-50428600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:50428400-50428600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:50428400-50428600	Genic enhancers	Spleen	Spleen
45	chr7:50428400-50429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:50428400-50431200	Genic enhancers	K562	blood
47	chr7:50428400-50432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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