Variant report

Variant	rs7385935
Chromosome Location	chr7:50430871-50430872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:50430780-50430930	GM12871	blood:	n/a	chr7:50430919-50430928
2	MYC	chr7:50430363-50430888	NB4	blood:	n/a	chr7:50430557-50430566
3	POLR2A	chr7:50430256-50431583	HL-60	blood:	n/a	n/a
4	POLR2A	chr7:50429810-50431606	GM12891	blood:	n/a	n/a
5	TEAD4	chr7:50430559-50430993	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:50430400-50431336	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50341781..50344620-chr7:50429195..50430943,2	K562	blood:

Variant related genes	Relation type
IKZF1	TF binding region
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12534526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12718597	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]
rs12718730	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12718731	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12718785	0.91[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7385935	FIGNL1	cis	lung	GTEx

Chromatin state (count:42 , 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	chr7:50416800-50440000	Weak transcription	Gastric	stomach
4	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:50420800-50431800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr7:50421200-50431000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50425000-50432400	Genic enhancers	Primary hematopoietic stem cells	blood
9	chr7:50427000-50431000	Genic enhancers	Primary B cells from cord blood	blood
10	chr7:50427200-50431400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:50427400-50432800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:50427600-50432400	Weak transcription	Esophagus	oesophagus
13	chr7:50427600-50437000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:50427800-50437000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:50428000-50433000	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr7:50428200-50441800	Genic enhancers	Fetal Thymus	thymus
17	chr7:50428400-50431200	Genic enhancers	K562	blood
18	chr7:50428400-50432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50428600-50431000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:50428600-50431200	Genic enhancers	Dnd41	blood
21	chr7:50428600-50447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:50429000-50431200	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:50429000-50434000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:50429800-50431200	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:50429800-50431400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
26	chr7:50429800-50431400	Genic enhancers	Spleen	Spleen
27	chr7:50429800-50433000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:50429800-50433000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:50429800-50435000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:50430400-50431000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr7:50430400-50431200	Enhancers	Small Intestine	intestine
32	chr7:50430400-50431600	Genic enhancers	GM12878-XiMat	blood
33	chr7:50430600-50431000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:50430600-50431000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr7:50430600-50431400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
36	chr7:50430600-50431400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:50430600-50437400	Genic enhancers	Thymus	Thymus
38	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr7:50430800-50431000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
40	chr7:50430800-50431400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:50430800-50432400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:50430800-50436800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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