Variant report

Variant	rs6593185
Chromosome Location	chr7:50858645-50858646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
2	chr7:50857865..50859927-chr7:50902975..50905675,2	K562	blood:
3	chr7:50425673..50428002-chr7:50857921..50860124,2	K562	blood:
4	chr7:50829955..50831834-chr7:50857481..50859941,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12718869	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs62447566	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62447585	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6593185	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50851000-50859000	Weak transcription	NHLF	lung
2	chr7:50851600-50859000	Weak transcription	Osteobl	bone
3	chr7:50853400-50859800	Weak transcription	Gastric	stomach
4	chr7:50856200-50859200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:50856600-50859600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:50857200-50859000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:50857200-50859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:50857200-50859200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:50857200-50859200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:50857200-50859800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:50857200-50861800	Active TSS	Right Atrium	heart
12	chr7:50857400-50861800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:50857600-50859000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50857600-50859200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:50857800-50858800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:50857800-50858800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:50857800-50859000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:50857800-50859000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:50857800-50859400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:50857800-50859800	Flanking Active TSS	HUVEC	blood vessel
21	chr7:50858000-50859600	Transcr. at gene 5' and 3'	K562	blood
22	chr7:50858200-50858800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:50858200-50858800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:50858200-50858800	Enhancers	Colon Smooth Muscle	Colon
25	chr7:50858200-50858800	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr7:50858200-50858800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr7:50858200-50859000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:50858200-50859000	Enhancers	Fetal Lung	lung
29	chr7:50858200-50859000	Active TSS	Psoas Muscle	Psoas
30	chr7:50858200-50859200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:50858200-50859200	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:50858200-50859400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:50858200-50859400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:50858200-50859600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:50858200-50859600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:50858200-50859600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:50858200-50859600	Enhancers	Placenta	Placenta
38	chr7:50858200-50859600	Enhancers	Stomach Mucosa	stomach
39	chr7:50858200-50859800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:50858200-50859800	Flanking Active TSS	Liver	Liver
41	chr7:50858200-50859800	Flanking Active TSS	NH-A	brain
42	chr7:50858200-50860000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:50858200-50861600	Active TSS	Left Ventricle	heart
44	chr7:50858400-50858800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:50858400-50858800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:50858400-50858800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr7:50858400-50858800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr7:50858400-50858800	Transcr. at gene 5' and 3'	Hela-S3	cervix
49	chr7:50858400-50859000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:50858400-50859000	Active TSS	NHDF-Ad	bronchial

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