Variant report

Variant	rs7910389
Chromosome Location	chr10:91091862-91091863
allele	C/T
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	POLR2A	chr10:91091747-91094224	GM19099	blood:	n/a	n/a
2	NR2F2	chr10:91091776-91092167	K562	blood:	n/a	n/a
3	EP300	chr10:91091835-91093070	GM12878	blood:	n/a	chr10:91092457-91092467 chr10:91092235-91092249 chr10:91092192-91092206
4	MTA3	chr10:91091814-91094217	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:91091824-91095564	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:91091691-91094196	GM18526	blood:	n/a	n/a
7	MYBL2	chr10:91091761-91092519	HepG2	liver:	n/a	n/a
8	PML	chr10:91091814-91094354	GM12878	blood:	n/a	n/a
9	IKZF1	chr10:91091829-91094282	GM12878	blood:	n/a	n/a
10	HNF4G	chr10:91091856-91092178	HepG2	liver:	n/a	chr10:91092041-91092056 chr10:91091970-91091985
11	FOXM1	chr10:91091825-91094360	GM12878	blood:	n/a	n/a
12	FOXA1	chr10:91091808-91092595	HepG2	liver:	n/a	chr10:91092454-91092466
13	SP1	chr10:91091739-91092146	HepG2	liver:	n/a	n/a
14	BHLHE40	chr10:91091817-91092203	HepG2	liver:	n/a	n/a
15	MTA3	chr10:91091807-91094338	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:91091832-91092184	HepG2	liver:	n/a	n/a
17	IRF1	chr10:91091828-91093371	K562	blood:	n/a	chr10:91092187-91092201 chr10:91092189-91092209 chr10:91092233-91092247 chr10:91092228-91092245 chr10:91092231-91092245 chr10:91092233-91092244 chr10:91092232-91092246 chr10:91092238-91092258 chr10:91092238-91092251 chr10:91092190-91092203 chr10:91092234-91092248 chr10:91092190-91092201 chr10:91092185-91092206 chr10:91092232-91092243 chr10:91092233-91092246 chr10:91092190-91092203 chr10:91092232-91092252 chr10:91092228-91092249 chr10:91092234-91092244 chr10:91092191-91092205 chr10:91092189-91092203 chr10:91092233-91092246 chr10:91092236-91092250 chr10:91092183-91092203 chr10:91092412-91092428 chr10:91092191-91092201 chr10:91092233-91092246 chr10:91093190-91093199 chr10:91092190-91092204 chr10:91092233-91092245 chr10:91092230-91092247
18	RELA	chr10:91091771-91094241	GM19099	blood:	n/a	chr10:91094017-91094026 chr10:91094017-91094026 chr10:91093847-91093856 chr10:91093847-91093856
19	POLR2A	chr10:91091742-91094086	GM19193	blood:	n/a	n/a
20	BHLHE40	chr10:91091306-91094227	GM12878	blood:	n/a	chr10:91092944-91092957
21	FOSL2	chr10:91091817-91092090	HepG2	liver:	n/a	n/a
22	BCLAF1	chr10:91091836-91092731	GM12878	blood:	n/a	chr10:91092192-91092201 chr10:91092235-91092244
23	ATF2	chr10:91091825-91093457	GM12878	blood:	n/a	n/a
24	EBF1	chr10:91091796-91094345	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:91091839-91092118	HepG2	liver:	n/a	n/a
26	POU2F2	chr10:91091800-91094222	GM12878	blood:	n/a	chr10:91093265-91093277 chr10:91092469-91092490 chr10:91092468-91092490
27	STAT5A	chr10:91091815-91093422	GM12878	blood:	n/a	chr10:91093270-91093282 chr10:91092190-91092201 chr10:91092239-91092250 chr10:91092233-91092244
28	POLR2A	chr10:91091652-91094449	GM12891	blood:	n/a	n/a
29	PAX5	chr10:91091854-91092776	GM12878	blood:	n/a	chr10:91092235-91092244 chr10:91092192-91092201
30	MEF2A	chr10:91091812-91092460	GM12878	blood:	n/a	n/a
31	FOXM1	chr10:91091811-91093150	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:91091857-91094173	GM18951	blood:	n/a	n/a
33	RCOR1	chr10:91091810-91091980	HepG2	liver:	n/a	n/a
34	ZNF384	chr10:91091837-91092283	K562	blood:	n/a	n/a
35	HNF4A	chr10:91091829-91092180	HepG2	liver:	n/a	chr10:91091971-91091986
36	RELA	chr10:91091834-91094242	GM18951	blood:	n/a	chr10:91094017-91094026 chr10:91094017-91094026 chr10:91093847-91093856 chr10:91093847-91093856
37	NFIC	chr10:91091764-91094469	GM12878	blood:	n/a	n/a
38	NR2F2	chr10:91091786-91092212	K562	blood:	n/a	n/a
39	BCLAF1	chr10:91091860-91093422	GM12878	blood:	n/a	chr10:91092192-91092201 chr10:91092235-91092244
40	HEY1	chr10:91091826-91092255	HepG2	liver:	n/a	n/a
41	MYBL2	chr10:91091769-91092193	HepG2	liver:	n/a	n/a
42	STAT5A	chr10:91091811-91094278	GM12878	blood:	n/a	chr10:91093270-91093282 chr10:91092190-91092201 chr10:91092239-91092250 chr10:91092233-91092244
43	HNF4A	chr10:91091835-91092101	HepG2	liver:	n/a	chr10:91091971-91091986
44	STAT2	chr10:91091849-91092529	K562	blood:	n/a	chr10:91092190-91092201 chr10:91092187-91092202 chr10:91092239-91092250 chr10:91092230-91092245 chr10:91092233-91092244
45	ZNF384	chr10:91091857-91092589	GM12878	blood:	n/a	n/a
46	RUNX3	chr10:91091832-91094282	GM12878	blood:	n/a	chr10:91092747-91092762 chr10:91092753-91092762 chr10:91092753-91092762
47	NR2F2	chr10:91091823-91092252	HepG2	liver:	n/a	n/a
48	CHD2	chr10:91091850-91094227	GM12878	blood:	n/a	chr10:91093268-91093278
49	POLR2A	chr10:91091809-91094323	GM12878	blood:	n/a	n/a
50	RELA	chr10:91091797-91094312	GM12891	blood:	n/a	chr10:91094017-91094026 chr10:91094017-91094026 chr10:91093847-91093856 chr10:91093847-91093856

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91086403..91089519-chr10:91091273..91094339,4	K562	blood:

Variant related genes	Relation type
IFIT3	TF binding region
ENSG00000119917	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10509571	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10509572	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10788642	0.82[ASN][1000 genomes]
rs10887950	0.82[AMR][1000 genomes]
rs10887953	0.83[ASN][1000 genomes]
rs10887957	0.81[ASN][1000 genomes]
rs11203063	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11203066	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11203070	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11203072	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11203090	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11203099	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11203105	0.83[ASN][1000 genomes]
rs11203106	0.83[ASN][1000 genomes]
rs11203115	0.82[ASN][1000 genomes]
rs11819073	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12248331	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12255504	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12356008	0.80[ASN][1000 genomes]
rs12766862	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12772449	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12781453	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1332330	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1591051	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17096301	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17120001	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17120004	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2070845	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2274878	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34032344	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34234196	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34712773	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35830608	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35833529	0.81[AMR][1000 genomes]
rs3740027	0.90[AMR][1000 genomes]
rs3780878	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4339948	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4630205	0.81[EUR][1000 genomes]
rs59564102	0.85[ASN][1000 genomes]
rs6586182	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6586183	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073534	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7085361	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7088579	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7097569	0.81[AMR][1000 genomes]
rs71479013	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7897619	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897873	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916812	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs884407	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9733018	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS 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	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7910389	IFIT5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91087200-91093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:91088000-91099800	Weak transcription	Gastric	stomach
3	chr10:91088200-91092000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:91088200-91092000	Weak transcription	Aorta	Aorta
5	chr10:91088200-91092400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:91088200-91093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:91088200-91093400	Weak transcription	Esophagus	oesophagus
8	chr10:91088400-91092000	Enhancers	Fetal Intestine Large	intestine
9	chr10:91088400-91092200	Weak transcription	HMEC	breast
10	chr10:91088600-91092200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:91088800-91092000	Weak transcription	A549	lung
12	chr10:91088800-91092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:91088800-91092200	Enhancers	Left Ventricle	heart
14	chr10:91088800-91092600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:91089000-91092000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr10:91089000-91092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:91089000-91092000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:91089000-91092200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:91089000-91092200	Weak transcription	Fetal Heart	heart
20	chr10:91089200-91092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:91089200-91092000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:91089400-91092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:91089600-91092000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr10:91090000-91092400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:91090200-91092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr10:91090200-91107600	Weak transcription	Pancreas	Pancrea
27	chr10:91090400-91092000	Weak transcription	Right Ventricle	heart
28	chr10:91090400-91092000	Weak transcription	HSMM	muscle
29	chr10:91090400-91092000	Weak transcription	HUVEC	blood vessel
30	chr10:91090400-91092200	Weak transcription	Lung	lung
31	chr10:91090400-91092600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr10:91090400-91092600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:91090600-91092000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:91090600-91092000	Weak transcription	NH-A	brain
35	chr10:91090600-91092200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:91090600-91092200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:91090600-91092200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:91090600-91092600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr10:91090800-91092000	Weak transcription	Stomach Mucosa	stomach
40	chr10:91090800-91092200	Enhancers	Brain Angular Gyrus	brain
41	chr10:91091000-91092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr10:91091000-91092000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:91091000-91092000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:91091000-91092000	Weak transcription	Placenta	Placenta
45	chr10:91091000-91092000	Enhancers	Thymus	Thymus
46	chr10:91091000-91092200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:91091000-91092200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:91091000-91092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr10:91091200-91092000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr10:91091200-91094000	Enhancers	Fetal Brain Male	brain

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