Variant report

Variant	rs304451
Chromosome Location	chr10:91175298-91175299
allele	A/C/G/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	chr10:91173608-91175392	GM12878	blood:	n/a	n/a
2	CHD1	chr10:91174007-91175505	GM12878	blood:	n/a	chr10:91174671-91174681
3	MAX	chr10:91174177-91175556	GM12878	blood:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
4	MAX	chr10:91174139-91175590	HepG2	liver:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
5	SIN3A	chr10:91173739-91175457	H1-hESC	embryonic stem cell:	n/a	chr10:91175017-91175026 chr10:91174537-91174548 chr10:91175046-91175059 chr10:91175034-91175043 chr10:91174485-91174499
6	GATA1	chr10:91173874-91175539	PBDE	blood:	n/a	chr10:91175287-91175297 chr10:91174172-91174181
7	POLR2A	chr10:91173633-91175510	MCF10A-Er-Src	breast:	n/a	n/a
8	TBP	chr10:91175121-91175573	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr10:91173990-91175486	GM12878	blood:	n/a	n/a
10	YY1	chr10:91174211-91175387	H1-hESC	embryonic stem cell:	n/a	chr10:91174993-91175007 chr10:91174994-91175008 chr10:91174982-91174996 chr10:91174376-91174387 chr10:91174800-91174811 chr10:91174993-91175002
11	USF2	chr10:91174870-91175545	GM12878	blood:	n/a	chr10:91174992-91175008
12	MAX	chr10:91173961-91175539	HepG2	liver:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
13	RELA	chr10:91173972-91175518	GM15510	blood:	n/a	n/a
14	MAX	chr10:91174231-91175521	H1-hESC	embryonic stem cell:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
15	YY1	chr10:91174120-91175497	GM12891	blood:	n/a	chr10:91174993-91175007 chr10:91174994-91175008 chr10:91174982-91174996 chr10:91174376-91174387 chr10:91174800-91174811 chr10:91174993-91175002
16	POLR2A	chr10:91174094-91175417	GM12878	blood:	n/a	n/a
17	KAP1	chr10:91173807-91175476	HEK293	kidney:	n/a	n/a
18	E2F6	chr10:91174252-91175612	H1-hESC	embryonic stem cell:	n/a	chr10:91174446-91174455 chr10:91175046-91175056 chr10:91174452-91174461
19	MAZ	chr10:91174864-91175504	GM12878	blood:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
20	CTCF	chr10:91175160-91175310	RPTEC	kidney:	n/a	n/a
21	POLR2A	chr10:91173805-91175564	GM12878	blood:	n/a	n/a
22	RUNX3	chr10:91174004-91175532	GM12878	blood:	n/a	chr10:91175121-91175138
23	E2F6	chr10:91174778-91175305	A549	lung:	n/a	chr10:91175046-91175056
24	MAX	chr10:91174250-91175575	H1-hESC	embryonic stem cell:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
25	YY1	chr10:91174277-91175536	GM12892	blood:	n/a	chr10:91174993-91175007 chr10:91174994-91175008 chr10:91174982-91174996 chr10:91174376-91174387 chr10:91174800-91174811 chr10:91174993-91175002
26	EBF1	chr10:91175131-91175525	GM12878	blood:	n/a	chr10:91175345-91175356
27	TBP	chr10:91174094-91175428	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr10:91173681-91175322	GM18951	blood:	n/a	n/a
29	RUNX3	chr10:91174018-91175541	GM12878	blood:	n/a	chr10:91175121-91175138
30	POLR2A	chr10:91173147-91175624	GM12891	blood:	n/a	n/a
31	MAX	chr10:91174848-91175547	A549	lung:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
32	MYC	chr10:91174881-91175322	MCF-7	breast:	n/a	n/a
33	POLR2A	chr10:91174057-91175361	HCT-116	colon:	n/a	n/a
34	GATA3	chr10:91175099-91175419	SH-SY5Y	brain:	n/a	chr10:91175287-91175297
35	USF1	chr10:91175246-91175524	H1-hESC	embryonic stem cell:	n/a	n/a
36	USF1	chr10:91175202-91175499	A549	lung:	n/a	n/a
37	SIN3A	chr10:91174043-91175508	GM12878	blood:	n/a	chr10:91175017-91175026 chr10:91174537-91174548 chr10:91175046-91175059 chr10:91175034-91175043 chr10:91174485-91174499
38	POLR2A	chr10:91174289-91175299	MCF-7	breast:	n/a	n/a
39	MAX	chr10:91174219-91175517	MCF-7	breast:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
40	POLR2A	chr10:91174241-91175481	IMR90	lung:	n/a	n/a
41	POLR2A	chr10:91173811-91175472	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:91174204-91175314	MCF-7	breast:	n/a	n/a
43	POLR2A	chr10:91174999-91175479	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr10:91174878-91175452	T-47D	breast:	n/a	chr10:91175287-91175297
45	SETDB1	chr10:91175085-91175581	U2OS	brain:	n/a	n/a
46	E2F6	chr10:91174151-91175632	A549	lung:	n/a	chr10:91174446-91174455 chr10:91175046-91175056 chr10:91174452-91174461
47	PML	chr10:91173885-91175354	GM12878	blood:	n/a	n/a
48	CHD2	chr10:91175087-91175389	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr10:91175196-91175544	MCF10A-Er-Src	breast:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
50	NFIC	chr10:91174931-91175391	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:91009631..91012227-chr10:91174311..91176643,2	MCF-7	breast:
2	chr10:91157615..91160495-chr10:91173578..91176122,3	MCF-7	breast:
3	chr10:91174610..91176445-chr10:91403039..91405498,2	MCF-7	breast:

Variant related genes	Relation type
LIPA	TF binding region
ENSG00000152782	Chromatin interaction
ENSG00000249962	Chromatin interaction
ENSG00000232936	Chromatin interaction
ENSG00000107798	Chromatin interaction
ENSG00000185745	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs215493	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2458877	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2484045	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303170	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs303172	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs303174	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs303217	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs304439	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304440	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304443	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304448	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304449	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs304478	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs304483	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs304485	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs304494	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs304495	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs304504	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs305371	0.80[AMR][1000 genomes]
rs305375	0.82[AMR][1000 genomes]
rs305376	0.82[AMR][1000 genomes]
rs305377	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs559198	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs627524	0.82[AMR][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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs304451	IFIT5	cis	Artery Tibial	GTEx
rs304451	IFIT5	cis	Nerve Tibial	GTEx
rs304451	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx
rs304451	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs304451	IFIT5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91173400-91175400	Active TSS	Fetal Lung	lung
2	chr10:91173400-91175600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:91173400-91175600	Active TSS	NHDF-Ad	bronchial
4	chr10:91173600-91175400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:91173600-91175400	Active TSS	Fetal Brain Female	brain
6	chr10:91173600-91175400	Active TSS	Fetal Muscle Trunk	muscle
7	chr10:91173600-91175600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:91173600-91175600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr10:91173600-91175600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:91173600-91175600	Active TSS	Aorta	Aorta
11	chr10:91173600-91175600	Active TSS	Fetal Kidney	kidney
12	chr10:91173600-91176000	Active TSS	GM12878-XiMat	blood
13	chr10:91173600-91176200	Active TSS	Right Atrium	heart
14	chr10:91173600-91176200	Active TSS	HSMM	muscle
15	chr10:91173800-91175400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:91173800-91175400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr10:91173800-91175400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr10:91173800-91175400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:91173800-91175400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr10:91173800-91175400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr10:91173800-91175400	Active TSS	Small Intestine	intestine
22	chr10:91173800-91175400	Active TSS	Thymus	Thymus
23	chr10:91173800-91175600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:91173800-91175600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:91173800-91175600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:91173800-91175600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:91173800-91175600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:91173800-91175600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:91173800-91175600	Active TSS	Brain Substantia Nigra	brain
30	chr10:91173800-91175600	Active TSS	Colonic Mucosa	Colon
31	chr10:91173800-91175600	Active TSS	Colon Smooth Muscle	Colon
32	chr10:91173800-91175600	Active TSS	Left Ventricle	heart
33	chr10:91173800-91175600	Active TSS	Ovary	ovary
34	chr10:91173800-91175600	Active TSS	Psoas Muscle	Psoas
35	chr10:91173800-91175800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:91173800-91175800	Active TSS	Right Ventricle	heart
37	chr10:91173800-91175800	Active TSS	NHLF	lung
38	chr10:91173800-91176200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr10:91174000-91175400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:91174000-91175400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr10:91174000-91175400	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr10:91174000-91175400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:91174000-91175400	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr10:91174000-91175400	Active TSS	Esophagus	oesophagus
45	chr10:91174000-91175400	Active TSS	Fetal Stomach	stomach
46	chr10:91174000-91175400	Active TSS	Gastric	stomach
47	chr10:91174000-91175400	Active TSS	Pancreas	Pancrea
48	chr10:91174000-91175400	Active TSS	Spleen	Spleen
49	chr10:91174000-91175400	Active TSS	Hela-S3	cervix
50	chr10:91174000-91175600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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