Variant report

Variant	rs41274318
Chromosome Location	chr18:43684330-43684331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:318)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:43684047-43685014	HUVEC	blood vessel:	n/a	n/a
2	CEBPB	chr18:43684130-43684392	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr18:43684056-43684902	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr18:43684188-43684505	GM12892	blood:	n/a	n/a
5	TAF1	chr18:43684000-43684921	H1-hESC	embryonic stem cell:	n/a	n/a
6	WRNIP1	chr18:43684072-43684402	GM12878	blood:	n/a	n/a
7	CHD2	chr18:43684102-43684712	Hela-S3	cervix:	n/a	chr18:43684362-43684372
8	EGR1	chr18:43684101-43684504	K562	blood:	n/a	chr18:43684303-43684313 chr18:43684458-43684467
9	IRF1	chr18:43683892-43684570	K562	blood:	n/a	chr18:43684302-43684316 chr18:43684074-43684088
10	SIN3AK20	chr18:43684056-43684949	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr18:43684104-43684714	HUVEC	blood vessel:	n/a	n/a
12	ZNF143	chr18:43683996-43684576	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr18:43684004-43684903	NB4	blood:	n/a	chr18:43684303-43684313
14	MAX	chr18:43683884-43684740	A549	lung:	n/a	chr18:43684303-43684313
15	E2F6	chr18:43684017-43684624	K562	blood:	n/a	chr18:43684412-43684424 chr18:43684149-43684160
16	POLR2A	chr18:43684007-43684960	MCF10A-Er-Src	breast:	n/a	n/a
17	SIX5	chr18:43684037-43684482	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr18:43683868-43684689	U87	brain:	n/a	n/a
19	E2F6	chr18:43684036-43684451	K562	blood:	n/a	chr18:43684412-43684424 chr18:43684149-43684160
20	TAF1	chr18:43684174-43684505	PFSK-1	brain:	n/a	n/a
21	HCFC1	chr18:43684013-43685024	K562	blood:	n/a	n/a
22	YY1	chr18:43684139-43684512	HepG2	liver:	n/a	n/a
23	BHLHE40	chr18:43684149-43684616	K562	blood:	n/a	n/a
24	RELA	chr18:43684088-43684892	GM15510	blood:	n/a	n/a
25	TAF1	chr18:43684070-43684799	SK-N-SH	brain:	n/a	n/a
26	TBP	chr18:43684056-43684978	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr18:43683911-43684903	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr18:43684070-43684549	HCT-116	colon:	n/a	n/a
29	POLR2A	chr18:43683912-43685025	PBDE	blood:	n/a	n/a
30	ELF1	chr18:43684114-43684493	K562	blood:	n/a	n/a
31	ZBTB7A	chr18:43684153-43684410	K562	blood:	n/a	n/a
32	GTF2B	chr18:43684155-43684418	K562	blood:	n/a	n/a
33	TBP	chr18:43684031-43684956	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr18:43684125-43684606	H1-hESC	embryonic stem cell:	n/a	chr18:43684362-43684372
35	POLR2A	chr18:43684096-43684793	GM12891	blood:	n/a	n/a
36	POLR2A	chr18:43684130-43684773	HepG2	liver:	n/a	n/a
37	YY1	chr18:43684117-43684528	K562	blood:	n/a	n/a
38	FOXP2	chr18:43684075-43684408	SK-N-MC	brain:	n/a	n/a
39	YY1	chr18:43684065-43684673	GM12878	blood:	n/a	n/a
40	POLR2A	chr18:43684084-43684824	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr18:43684066-43684991	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr18:43684154-43684920	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPD	chr18:43684181-43684409	HepG2	liver:	n/a	n/a
44	GABPA	chr18:43684069-43684942	MCF-7	breast:	n/a	chr18:43684303-43684312
45	E2F6	chr18:43683841-43684770	H1-hESC	embryonic stem cell:	n/a	chr18:43684412-43684424 chr18:43684149-43684160
46	ZNF263	chr18:43684327-43685160	HEK293-T-REx	kidney:	n/a	chr18:43684502-43684523
47	EP300	chr18:43684064-43684450	K562	blood:	n/a	chr18:43684067-43684081
48	PAX5	chr18:43684080-43684475	GM12878	blood:	n/a	n/a
49	POLR2A	chr18:43684100-43684954	PANC-1	pancreas:	n/a	n/a
50	HCFC1	chr18:43683835-43685318	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:43684326-43684376	SKMC	muscle:	n/a
2	chr18:43684326-43684376	Hela-S3	cervix:	n/a
3	chr18:43684326-43684376	AG10803	skin:	n/a
4	chr18:43684326-43684376	BE2_C	brain:	n/a
5	chr18:43684326-43684376	BJ	skin:	n/a
6	chr18:43684326-43684376	MCF-7	breast:	n/a
7	chr18:43684326-43684376	RPTEC	kidney:	n/a
8	chr18:43684326-43684376	HRE	kidney:	n/a
9	chr18:43684326-43684376	GM06990	blood:	n/a
10	chr18:43684326-43684376	CMK	blood:	n/a
11	chr18:43684326-43684376	K562	blood:	n/a
12	chr18:43684326-43684376	HEK293	kidney:	embryo
13	chr18:43684326-43684376	AoSMC	blood vessel:	n/a
14	chr18:43684326-43684376	Jurkat	blood:	n/a
15	chr18:43684326-43684376	HMEC	breast:	n/a
16	chr18:43684326-43684376	A549	lung:	n/a
17	chr18:43684326-43684376	AG09309	skin:	n/a
18	chr18:43684326-43684376	SAEC	small airway:	n/a
19	chr18:43684326-43684376	HRPEpiC	eye:	n/a
20	chr18:43684326-43684376	T-47D	breast:	n/a
21	chr18:43684326-43684376	NHDF-neo	bronchial:	n/a
22	chr18:43684326-43684376	HRCEpiC	kidney:	n/a
23	chr18:43684326-43684376	IMR90	lung:	fetal
24	chr18:43684326-43684376	HL-60	blood:	n/a
25	chr18:43684326-43684376	AG09319	gingival:	n/a
26	chr18:43684326-43684376	ovcar-3	ovarian:	n/a
27	chr18:43684326-43684376	NB4	blood:	n/a
28	chr18:43684326-43684376	NT2-D1	testis:	n/a
29	chr18:43684326-43684376	HUVEC	blood vessel:	n/a
30	chr18:43684326-43684376	GM19239	blood:	n/a
31	chr18:43684326-43684376	HCF	heart:	n/a
32	chr18:43684326-43684376	HepG2	liver:	n/a
33	chr18:43684326-43684376	HCPEpiC	choroid plexus:	n/a
34	chr18:43684326-43684376	HNPCEpiC	eye:	n/a
35	chr18:43684326-43684376	Hepatocyte	liver:	n/a
36	chr18:43684326-43684376	PANC-1	pancreas:	n/a
37	chr18:43684326-43684376	H1-hESC	embryonic stem cell:	embryo
38	chr18:43684326-43684376	HCT-116	colon:	n/a
39	chr18:43684326-43684376	SK-N-SH	brain:	n/a
40	chr18:43684326-43684376	HIPEpiC	eye:	n/a
41	chr18:43684326-43684376	ECC-1	luminal epithelium:	n/a
42	chr18:43684326-43684376	GM12892	blood:	n/a
43	chr18:43684326-43684376	HCM	heart:	n/a
44	chr18:43684326-43684376	HPAEpiC	pulmonary alveolar:	n/a
45	chr18:43684326-43684376	NHBE	bronchial:	n/a
46	chr18:43684326-43684376	U87	brain:	n/a
47	chr18:43684326-43684376	HEEpiC	esophagus:	n/a
48	chr18:43684326-43684376	LNCaP	prostate:	n/a
49	chr18:43684326-43684376	ProgFib	skin:	n/a
50	chr18:43684326-43684376	MCF10A-Er-Src	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43677240..43681670-chr18:43684014..43685946,4	K562	blood:
2	chr18:43676160..43680812-chr18:43682051..43685941,8	K562	blood:
3	chr18:43676858..43680433-chr18:43682158..43685518,5	MCF-7	breast:

No data

Variant related genes	Relation type
ATP5A1	TF binding region
HAUS1	TF binding region
ATP5A1	CpG island
HAUS1	CpG island
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35071785	0.86[EUR][1000 genomes]
rs41274316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743028	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61261514	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68059007	0.88[EUR][1000 genomes]
rs72903405	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903407	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72903427	0.93[EUR][1000 genomes]
rs72903432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72903438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903445	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903447	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903448	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903449	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72903451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903452	0.98[EUR][1000 genomes]
rs72903454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903458	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8084445	0.98[EUR][1000 genomes]
rs8084557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8095711	0.93[EUR][1000 genomes]
rs8098010	0.98[EUR][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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv962965	chr18:43678008-43706302	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs41274318	HAUS1	cis	Heart Left Ventricle	GTEx
rs41274318	HAUS1	cis	Artery Aorta	GTEx
rs41274318	HAUS1	cis	Nerve Tibial	GTEx
rs41274318	HAUS1	cis	Muscle Skeletal	GTEx
rs41274318	HAUS1	cis	Thyroid	GTEx
rs41274318	HAUS1	cis	Esophagus Muscularis	GTEx
rs41274318	HAUS1	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43678800-43684400	Weak transcription	Spleen	Spleen
2	chr18:43683800-43684400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr18:43683800-43684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr18:43683800-43684800	Active TSS	Brain Angular Gyrus	brain
5	chr18:43683800-43685000	Active TSS	Brain Substantia Nigra	brain
6	chr18:43683800-43685200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:43683800-43685400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr18:43683800-43685400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr18:43683800-43685400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:43683800-43685400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:43683800-43685400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr18:43683800-43685400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:43683800-43685400	Active TSS	NHDF-Ad	bronchial
14	chr18:43683800-43685600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:43683800-43685600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr18:43683800-43685600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr18:43683800-43685800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:43683800-43685800	Active TSS	Brain Germinal Matrix	brain
19	chr18:43684000-43684400	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr18:43684000-43684400	Weak transcription	Fetal Heart	heart
21	chr18:43684000-43684400	Weak transcription	Small Intestine	intestine
22	chr18:43684000-43684400	Weak transcription	Stomach Mucosa	stomach
23	chr18:43684000-43684400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr18:43684000-43684600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr18:43684000-43684800	Active TSS	Primary T cells from cord blood	blood
26	chr18:43684000-43684800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr18:43684000-43684800	Active TSS	Rectal Smooth Muscle	rectum
28	chr18:43684000-43685000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:43684000-43685000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:43684000-43685000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr18:43684000-43685000	Active TSS	Brain Anterior Caudate	brain
32	chr18:43684000-43685000	Active TSS	Duodenum Mucosa	Duodenum
33	chr18:43684000-43685000	ZNF genes & repeats	Fetal Brain Male	brain
34	chr18:43684000-43685000	Active TSS	Left Ventricle	heart
35	chr18:43684000-43685000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr18:43684000-43685000	Active TSS	HSMMtube	muscle
37	chr18:43684000-43685200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr18:43684000-43685200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr18:43684000-43685200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr18:43684000-43685200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:43684000-43685200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:43684000-43685200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr18:43684000-43685200	Active TSS	Aorta	Aorta
44	chr18:43684000-43685200	Active TSS	Brain Cingulate Gyrus	brain
45	chr18:43684000-43685200	Active TSS	Brain Hippocampus Middle	brain
46	chr18:43684000-43685200	Active TSS	Colonic Mucosa	Colon
47	chr18:43684000-43685200	Active TSS	Fetal Intestine Large	intestine
48	chr18:43684000-43685200	Active TSS	Fetal Intestine Small	intestine
49	chr18:43684000-43685200	Active TSS	Psoas Muscle	Psoas
50	chr18:43684000-43685200	Active TSS	Right Atrium	heart

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