Variant report

Variant	rs12718731
Chromosome Location	chr7:50436948-50436949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:50198448..50199345-chr7:50436815..50437783,2	K562	blood:
2	chr7:50243616..50247294-chr7:50434768..50437607,4	K562	blood:
3	chr7:50432500..50434476-chr7:50436749..50439027,3	K562	blood:
4	chr7:50181708..50182551-chr7:50436773..50437381,3	K562	blood:
5	chr7:50244742..50245855-chr7:50436595..50438226,13	K562	blood:
6	chr7:50244683..50245796-chr7:50436572..50437838,9	MCF-7	breast:
7	chr7:50246034..50246838-chr7:50436681..50437592,4	K562	blood:
8	chr7:50244603..50245562-chr7:50436820..50437380,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231681	Chromatin interaction
ENSG00000228005	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12534526	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12669559	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12718597	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12718730	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7385935	0.86[AMR][1000 genomes];0.85[EUR][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12718731	FIGNL1	cis	Thyroid	GTEx
rs12718731	FIGNL1	cis	lung	GTEx
rs12718731	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50416800-50440000	Weak transcription	Gastric	stomach
2	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:50427600-50437000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:50427800-50437000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:50428200-50441800	Genic enhancers	Fetal Thymus	thymus
7	chr7:50428600-50447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:50430600-50437400	Genic enhancers	Thymus	Thymus
9	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:50431200-50437000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:50431200-50460600	Strong transcription	Dnd41	blood
12	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:50432400-50440200	Strong transcription	Primary hematopoietic stem cells	blood
14	chr7:50432800-50438600	Weak transcription	Spleen	Spleen
15	chr7:50434000-50437400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr7:50434800-50437400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:50435400-50437400	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr7:50435800-50437200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:50436200-50437200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr7:50436200-50437200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:50436200-50437600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:50436400-50437000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:50436400-50437000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:50436400-50437400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:50436400-50438000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:50436600-50437000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr7:50436600-50437000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr7:50436600-50437400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr7:50436600-50437400	ZNF genes & repeats	GM12878-XiMat	blood
30	chr7:50436800-50437200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:50436800-50437200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:50436800-50437200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr7:50436800-50437400	Genic enhancers	K562	blood
34	chr7:50436800-50438000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:50436800-50442800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:50436800-50448200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood

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