Variant report

Variant	rs11943048
Chromosome Location	chr4:57254568-57254569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr4:57252989-57254633	GM12878	blood:	n/a	n/a
2	MXI1	chr4:57253067-57254838	IMR90	lung:	n/a	n/a
3	MXI1	chr4:57253290-57254771	K562	blood:	n/a	n/a
4	POLR2A	chr4:57254296-57254812	GM12891	blood:	n/a	n/a
5	POLR2A	chr4:57254214-57255273	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr4:57254412-57254888	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr4:57254123-57254633	K562	blood:	n/a	n/a
8	POLR2A	chr4:57252843-57257309	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:57253098-57255111	K562	blood:	n/a	n/a
10	POLR2A	chr4:57254374-57254980	GM12891	blood:	n/a	n/a
11	POLR2A	chr4:57254389-57254899	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:57253046-57257192	GM12891	blood:	n/a	n/a
13	MYC	chr4:57253085-57254910	K562	blood:	n/a	n/a
14	TEAD4	chr4:57253207-57254944	K562	blood:	n/a	n/a
15	POLR2A	chr4:57252977-57254602	MCF10A-Er-Src	breast:	n/a	n/a
16	MAFK	chr4:57253106-57254744	K562	blood:	n/a	n/a
17	GATA1	chr4:57253159-57256476	PBDE	blood:	n/a	chr4:57253785-57253794 chr4:57255968-57255978 chr4:57256193-57256204
18	CREB1	chr4:57253006-57254730	K562	blood:	n/a	n/a
19	POLR2A	chr4:57254355-57254951	MCF-7	breast:	n/a	n/a
20	POLR2A	chr4:57254382-57254920	U87	brain:	n/a	n/a
21	POLR2A	chr4:57254342-57254891	GM12892	blood:	n/a	n/a
22	POLR2A	chr4:57254524-57255036	PFSK-1	brain:	n/a	n/a
23	TAL1	chr4:57253164-57254807	K562	blood:	n/a	n/a
24	POLR2A	chr4:57254212-57255258	GM12878	blood:	n/a	n/a
25	TBL1XR1	chr4:57254201-57254745	K562	blood:	n/a	n/a
26	POLR2A	chr4:57252887-57254837	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr4:57253157-57254673	K562	blood:	n/a	n/a
28	POLR2A	chr4:57254305-57254985	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:57254478-57254857	K562	blood:	n/a	n/a
30	POLR2A	chr4:57253055-57255008	HepG2	liver:	n/a	n/a
31	POLR2A	chr4:57253047-57255279	PBDE	blood:	n/a	n/a
32	POLR2A	chr4:57253068-57254980	HL-60	blood:	n/a	n/a
33	POLR2A	chr4:57254532-57254998	GM12892	blood:	n/a	n/a
34	POLR2A	chr4:57253052-57254820	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:57253060-57254937	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:57253030-57254913	K562	blood:	n/a	n/a
37	BHLHE40	chr4:57254567-57254807	K562	blood:	n/a	n/a
38	POLR2A	chr4:57253107-57259459	K562	blood:	n/a	n/a
39	POLR2A	chr4:57252968-57254912	GM12878	blood:	n/a	n/a
40	MYC	chr4:57253200-57254813	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr4:57253045-57254989	GM12878	blood:	n/a	n/a
42	CHD2	chr4:57254395-57254676	K562	blood:	n/a	n/a
43	POLR2A	chr4:57253190-57255024	HepG2	liver:	n/a	n/a
44	ATF1	chr4:57253190-57254720	K562	blood:	n/a	n/a
45	CREB1	chr4:57252984-57254637	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:57253098-57254890	K562	blood:	n/a	n/a
47	YY1	chr4:57254541-57254907	K562	blood:	n/a	n/a
48	POLR2A	chr4:57254254-57255015	K562	blood:	n/a	n/a
49	POLR2A	chr4:57253088-57255150	K562	blood:	n/a	n/a
50	MXI1	chr4:57252900-57254796	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57252171..57255208-chr4:57332200..57335252,5	K562	blood:
2	chr4:57252130..57255932-chr4:57332416..57336369,6	K562	blood:
3	chr4:57251780..57255283-chr4:57300557..57304376,5	MCF-7	breast:
4	chr4:57254546..57256143-chr4:57396737..57398873,2	K562	blood:
5	chr4:57250870..57256510-chr4:57298204..57303491,14	K562	blood:
6	chr4:57252113..57256281-chr4:57265528..57268374,5	MCF-7	breast:
7	chr4:57251940..57255035-chr4:57332077..57334754,4	MCF-7	breast:
8	chr4:57252573..57255971-chr4:57298663..57303783,6	MCF-7	breast:
9	chr4:56813904..56818311-chr4:57252529..57254894,5	K562	blood:
10	chr4:57252189..57254981-chr4:57775973..57777493,2	MCF-7	breast:
11	chr4:57250870..57256080-chr4:57298204..57304153,16	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAICS-3	chr4:57253640-57259528	NONHSAT096500

No data

Variant related genes	Relation type
AASDH	TF binding region
ENSG00000128059	Chromatin interaction
ENSG00000084093	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000174799	Chromatin interaction
ENSG00000249693	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1042040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124570	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11538098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11722404	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11728068	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11732985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734595	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11935357	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11937997	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11946745	0.84[EUR][1000 genomes]
rs13102012	0.89[MEX][hapmap]
rs13109030	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13122196	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13122422	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13122832	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123301	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs13123542	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13124065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124696	0.89[MEX][hapmap]
rs13129188	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13131846	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13132553	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13135151	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13140746	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13146014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13148435	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13148656	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13150137	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13150967	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401908	1.00[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs1401911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030363	0.91[EUR][1000 genomes]
rs3796544	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6554346	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6554347	0.82[CEU][hapmap];0.89[MEX][hapmap]
rs6554350	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6554353	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6554354	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6811153	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6811616	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6811652	0.91[EUR][1000 genomes]
rs6812222	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6815480	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6818283	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6818340	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6820922	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6854326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6857561	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7437329	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7654543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656361	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7673373	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682041	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7682608	0.92[EUR][1000 genomes]
rs7695701	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7699157	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs956275	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995463	0.92[CEU][hapmap];0.86[CHB][hapmap];0.91[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	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11943048	AASDH	cis	parietal	SCAN
rs11943048	AASDH	cis	multi-tissue	Pritchard
rs11943048	RPL21P44	cis	cerebellum	SCAN
rs11943048	AASDH	cis	Skin Sun Exposed Lower leg	GTEx
rs11943048	AASDH	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57252200-57254600	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:57252200-57255000	Active TSS	NHLF	lung
3	chr4:57252200-57255200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:57252200-57255200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:57252200-57255200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:57252400-57254600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:57252400-57255000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr4:57252400-57255000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:57252400-57255000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:57252400-57255000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:57252400-57255200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr4:57252400-57255400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:57252400-57255600	Active TSS	K562	blood
14	chr4:57252600-57254600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:57252600-57254600	Active TSS	Colonic Mucosa	Colon
16	chr4:57252600-57254600	Active TSS	Fetal Brain Female	brain
17	chr4:57252600-57254600	Active TSS	Fetal Stomach	stomach
18	chr4:57252600-57254600	Active TSS	Psoas Muscle	Psoas
19	chr4:57252600-57254600	Active TSS	Right Ventricle	heart
20	chr4:57252600-57254600	Active TSS	Thymus	Thymus
21	chr4:57252600-57254600	Active TSS	HMEC	breast
22	chr4:57252600-57254800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:57252600-57255000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:57252600-57255000	Active TSS	A549	lung
25	chr4:57252600-57255000	Active TSS	HSMMtube	muscle
26	chr4:57252600-57255400	Active TSS	GM12878-XiMat	blood
27	chr4:57252600-57255400	Active TSS	NHDF-Ad	bronchial
28	chr4:57252800-57255000	Active TSS	Fetal Muscle Trunk	muscle
29	chr4:57253000-57254600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:57253000-57254600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:57253000-57254600	Active TSS	Aorta	Aorta
32	chr4:57253000-57254600	Active TSS	Left Ventricle	heart
33	chr4:57253000-57254600	Active TSS	Ovary	ovary
34	chr4:57253000-57254600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr4:57253000-57254800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr4:57253000-57254800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:57253000-57254800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:57253000-57254800	Active TSS	Rectal Smooth Muscle	rectum
39	chr4:57253000-57254800	Active TSS	Stomach Mucosa	stomach
40	chr4:57253200-57254600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:57253200-57254600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:57253600-57254600	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr4:57253800-57254600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr4:57253800-57254600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr4:57253800-57254800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr4:57253800-57255000	Active TSS	Right Atrium	heart
47	chr4:57253800-57255200	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr4:57253800-57255200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:57254000-57254600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr4:57254000-57254800	Flanking Active TSS	Primary T cells from cord blood	blood

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