Variant report

Variant	rs304434
Chromosome Location	chr10:91174674-91174675
allele	C/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	POLR2A	chr10:91173608-91175392	GM12878	blood:	n/a	n/a
2	CHD1	chr10:91174007-91175505	GM12878	blood:	n/a	chr10:91174671-91174681
3	POLR2A	chr10:91173843-91174733	PBDE	blood:	n/a	n/a
4	TAF1	chr10:91174219-91174682	H1-neurons	neurons:	n/a	n/a
5	MAX	chr10:91174177-91175556	GM12878	blood:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
6	MAX	chr10:91174139-91175590	HepG2	liver:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
7	BCLAF1	chr10:91173965-91174715	GM12878	blood:	n/a	chr10:91174321-91174330
8	ELF1	chr10:91174373-91175168	MCF-7	breast:	n/a	chr10:91174989-91175001 chr10:91174999-91175008 chr10:91174995-91175007
9	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
10	POLR2A	chr10:91174048-91174793	U87	brain:	n/a	n/a
11	CTBP2	chr10:91174066-91175091	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA1	chr10:91173874-91175539	PBDE	blood:	n/a	chr10:91175287-91175297 chr10:91174172-91174181
13	RCOR1	chr10:91174211-91174697	K562	blood:	n/a	n/a
14	MXI1	chr10:91174074-91175142	HepG2	liver:	n/a	n/a
15	TAF1	chr10:91173944-91175228	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr10:91174136-91174703	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr10:91173633-91175510	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr10:91174247-91174674	PFSK-1	brain:	n/a	n/a
19	TBL1XR1	chr10:91173990-91175486	GM12878	blood:	n/a	n/a
20	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
21	MAX	chr10:91173961-91175539	HepG2	liver:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
22	POLR2A	chr10:91174211-91174715	HepG2	liver:	n/a	n/a
23	SMC3	chr10:91173906-91174988	GM12878	blood:	n/a	n/a
24	RELA	chr10:91173972-91175518	GM15510	blood:	n/a	n/a
25	MAX	chr10:91174231-91175521	H1-hESC	embryonic stem cell:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
26	POLR2A	chr10:91174089-91174680	Hela-S3	cervix:	n/a	n/a
27	POU2F2	chr10:91174317-91174763	GM12878	blood:	n/a	n/a
28	POLR2A	chr10:91174283-91175238	MCF-7	breast:	n/a	n/a
29	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
30	YY1	chr10:91174355-91174792	SK-N-SH_RA	brain:	n/a	chr10:91174376-91174387
31	HA-E2F1	chr10:91174135-91174918	MCF-7	breast:	n/a	chr10:91174446-91174455 chr10:91174452-91174461
32	POLR2A	chr10:91174094-91175417	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:91174024-91174752	U87	brain:	n/a	n/a
34	MYBL2	chr10:91174263-91174718	HepG2	liver:	n/a	n/a
35	KAP1	chr10:91173807-91175476	HEK293	kidney:	n/a	n/a
36	CTCF	chr10:91174540-91174690	HA-sp	spinal cord:	n/a	n/a
37	E2F6	chr10:91174252-91175612	H1-hESC	embryonic stem cell:	n/a	chr10:91174446-91174455 chr10:91175046-91175056 chr10:91174452-91174461
38	POLR2A	chr10:91174173-91174970	HepG2	liver:	n/a	n/a
39	TCF3	chr10:91174585-91175269	GM12878	blood:	n/a	chr10:91175046-91175059
40	POLR2A	chr10:91173805-91175564	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:91174324-91175149	A549	lung:	n/a	n/a
42	RUNX3	chr10:91174004-91175532	GM12878	blood:	n/a	chr10:91175121-91175138
43	MAX	chr10:91174250-91175575	H1-hESC	embryonic stem cell:	n/a	chr10:91175372-91175379 chr10:91175372-91175381 chr10:91175371-91175380
44	SMC3	chr10:91173915-91174715	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr10:91174049-91174909	GM12891	blood:	n/a	n/a
46	POLR2A	chr10:91174307-91174767	HepG2	liver:	n/a	n/a
47	YY1	chr10:91174266-91174695	SK-N-SH_RA	brain:	n/a	chr10:91174376-91174387
48	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
49	GTF2F1	chr10:91173743-91174675	Hela-S3	cervix:	n/a	n/a
50	TBP	chr10:91174094-91175428	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:91174651-91174701	HPAEpiC	pulmonary alveolar:	n/a
2	chr10:91174651-91174701	Hepatocyte	liver:	n/a
3	chr10:91174667-91174717	H1-hESC	embryonic stem cell:	embryo
4	chr10:91174667-91174717	NB4	blood:	n/a
5	chr10:91174651-91174701	NT2-D1	testis:	n/a
6	chr10:91174651-91174701	HEEpiC	esophagus:	n/a
7	chr10:91174651-91174701	MCF10A-Er-Src	breast:	n/a
8	chr10:91174667-91174717	AoSMC	blood vessel:	n/a
9	chr10:91174651-91174701	Jurkat	blood:	n/a
10	chr10:91174667-91174717	MCF10A-Er-Src	breast:	n/a
11	chr10:91174667-91174717	BJ	skin:	n/a
12	chr10:91174651-91174701	GM12878	blood:	n/a
13	chr10:91174667-91174717	AG09319	gingival:	n/a
14	chr10:91174667-91174717	NH-A	brain:	n/a
15	chr10:91174667-91174717	HPAEpiC	pulmonary alveolar:	n/a
16	chr10:91174651-91174701	K562	blood:	n/a
17	chr10:91174651-91174701	GM19239	blood:	n/a
18	chr10:91174667-91174717	BE2_C	brain:	n/a
19	chr10:91174667-91174717	ECC-1	luminal epithelium:	n/a
20	chr10:91174651-91174701	IMR90	lung:	fetal
21	chr10:91174651-91174701	PANC-1	pancreas:	n/a
22	chr10:91174667-91174717	Jurkat	blood:	n/a
23	chr10:91174667-91174717	GM12878	blood:	n/a
24	chr10:91174651-91174701	HCPEpiC	choroid plexus:	n/a
25	chr10:91174667-91174717	NT2-D1	testis:	n/a
26	chr10:91174667-91174717	SK-N-SH_RA	brain:	n/a
27	chr10:91174667-91174717	HepG2	liver:	n/a
28	chr10:91174651-91174701	H1-hESC	embryonic stem cell:	embryo
29	chr10:91174667-91174717	AG10803	skin:	n/a
30	chr10:91174667-91174717	RPTEC	kidney:	n/a
31	chr10:91174667-91174717	HMEC	breast:	n/a
32	chr10:91174651-91174701	AG10803	skin:	n/a
33	chr10:91174667-91174717	HNPCEpiC	eye:	n/a
34	chr10:91174667-91174717	GM06990	blood:	n/a
35	chr10:91174667-91174717	GM12891	blood:	n/a
36	chr10:91174667-91174717	HEEpiC	esophagus:	n/a
37	chr10:91174667-91174717	AG09309	skin:	n/a
38	chr10:91174651-91174701	HCT-116	colon:	n/a
39	chr10:91174667-91174717	SK-N-MC	brain:	n/a
40	chr10:91174667-91174717	K562	blood:	n/a
41	chr10:91174651-91174701	HCM	heart:	n/a
42	chr10:91174667-91174717	Hela-S3	cervix:	n/a
43	chr10:91174651-91174701	ECC-1	luminal epithelium:	n/a
44	chr10:91174667-91174717	HL-60	blood:	n/a
45	chr10:91174667-91174717	PANC-1	pancreas:	n/a
46	chr10:91174651-91174701	AG04449	skin:	fetal
47	chr10:91174667-91174717	Hepatocyte	liver:	n/a
48	chr10:91174651-91174701	Hela-S3	cervix:	n/a
49	chr10:91174651-91174701	HUVEC	blood vessel:	n/a
50	chr10:91174667-91174717	SK-N-SH	brain:	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
LIPA	CpG island
ENSG00000232936	Chromatin interaction
ENSG00000249962	Chromatin interaction
ENSG00000107798	Chromatin interaction
ENSG00000185745	Chromatin interaction
ENSG00000152782	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs184236	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs188589	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188591	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2484046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484047	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs303173	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303209	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303210	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303213	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303215	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs303216	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs303218	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs304411	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs304412	0.87[AMR][1000 genomes]
rs304413	0.84[AMR][1000 genomes]
rs304436	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304441	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304442	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304447	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs304450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304492	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304497	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs304500	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs304502	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304503	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304505	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304506	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs781501	0.80[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs304434	IFIT5	cis	Nerve Tibial	GTEx
rs304434	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs304434	IFIT5	cis	Esophagus Muscularis	GTEx
rs304434	IFIT5	cis	Artery Tibial	GTEx
rs304434	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs304434	IFIT5	cis	Thyroid	GTEx
rs304434	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	chr10:91173600-91174800	Active TSS	HMEC	breast
5	chr10:91173600-91175000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr10:91173600-91175000	Active TSS	Primary T cells fromperipheralblood	blood
7	chr10:91173600-91175000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:91173600-91175000	Active TSS	Fetal Thymus	thymus
9	chr10:91173600-91175200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:91173600-91175200	Active TSS	Fetal Muscle Leg	muscle
11	chr10:91173600-91175400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:91173600-91175400	Active TSS	Fetal Brain Female	brain
13	chr10:91173600-91175400	Active TSS	Fetal Muscle Trunk	muscle
14	chr10:91173600-91175600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:91173600-91175600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:91173600-91175600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:91173600-91175600	Active TSS	Aorta	Aorta
18	chr10:91173600-91175600	Active TSS	Fetal Kidney	kidney
19	chr10:91173600-91176000	Active TSS	GM12878-XiMat	blood
20	chr10:91173600-91176200	Active TSS	Right Atrium	heart
21	chr10:91173600-91176200	Active TSS	HSMM	muscle
22	chr10:91173800-91174800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:91173800-91174800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:91173800-91175000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:91173800-91175000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:91173800-91175000	Active TSS	Dnd41	blood
27	chr10:91173800-91175200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr10:91173800-91175200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:91173800-91175200	Active TSS	Fetal Intestine Small	intestine
30	chr10:91173800-91175200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr10:91173800-91175400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr10:91173800-91175400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr10:91173800-91175400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr10:91173800-91175400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:91173800-91175400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr10:91173800-91175400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr10:91173800-91175400	Active TSS	Small Intestine	intestine
38	chr10:91173800-91175400	Active TSS	Thymus	Thymus
39	chr10:91173800-91175600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:91173800-91175600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:91173800-91175600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:91173800-91175600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:91173800-91175600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:91173800-91175600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:91173800-91175600	Active TSS	Brain Substantia Nigra	brain
46	chr10:91173800-91175600	Active TSS	Colonic Mucosa	Colon
47	chr10:91173800-91175600	Active TSS	Colon Smooth Muscle	Colon
48	chr10:91173800-91175600	Active TSS	Left Ventricle	heart
49	chr10:91173800-91175600	Active TSS	Ovary	ovary
50	chr10:91173800-91175600	Active TSS	Psoas Muscle	Psoas

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