Variant report

Variant	rs756493
Chromosome Location	chr1:114472650-114472651
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	chr1:114470792-114473521	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:114470836-114473396	K562	blood:	n/a	n/a
3	CREB1	chr1:114471417-114472791	K562	blood:	n/a	n/a
4	CTCF	chr1:114472560-114472710	GM06990	blood:	n/a	chr1:114472663-114472676
5	TBL1XR1	chr1:114472549-114474429	K562	blood:	n/a	n/a
6	ZKSCAN1	chr1:114472547-114472746	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:114471482-114473538	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr1:114472640-114472790	HPF	lung:	n/a	chr1:114472663-114472676
9	CTCF	chr1:114471673-114472861	K562	blood:	n/a	chr1:114472298-114472311 chr1:114472663-114472676
10	POLR2A	chr1:114471073-114473562	GM12878	blood:	n/a	n/a
11	MXI1	chr1:114470648-114473883	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr1:114472520-114472670	HUVEC	blood vessel:	n/a	n/a
13	E2F6	chr1:114472594-114472777	K562	blood:	n/a	n/a
14	POLR2A	chr1:114471538-114473494	K562	blood:	n/a	n/a
15	RCOR1	chr1:114472545-114472681	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:114471293-114473102	GM18526	blood:	n/a	n/a
17	CTCF	chr1:114472616-114472737	K562	blood:	n/a	chr1:114472663-114472676
18	ELF1	chr1:114471516-114473429	K562	blood:	n/a	chr1:114472196-114472208 chr1:114472308-114472320
19	RUNX3	chr1:114472639-114473549	GM12878	blood:	n/a	n/a
20	RAD21	chr1:114472384-114472897	H1-hESC	embryonic stem cell:	n/a	chr1:114472662-114472676
21	ZNF143	chr1:114471389-114472959	GM12878	blood:	n/a	chr1:114472703-114472713
22	SIN3AK20	chr1:114471813-114472832	PANC-1	pancreas:	n/a	n/a
23	SIN3A	chr1:114471570-114473630	H1-hESC	embryonic stem cell:	n/a	chr1:114472939-114472947 chr1:114472289-114472302
24	CTCF	chr1:114472620-114472770	HBMEC	blood vessel:	n/a	chr1:114472663-114472676
25	MXI1	chr1:114471415-114473383	HepG2	liver:	n/a	n/a
26	YY1	chr1:114472482-114472905	GM12878	blood:	n/a	chr1:114472519-114472530 chr1:114472663-114472677
27	POLR2A	chr1:114472646-114473412	GM12891	blood:	n/a	n/a
28	MAZ	chr1:114471330-114474073	IMR90	lung:	n/a	chr1:114472800-114472810 chr1:114473592-114473601
29	CTCF	chr1:114472520-114472670	A549	lung:	n/a	n/a
30	POLR2A	chr1:114471568-114473374	Hela-S3	cervix:	n/a	n/a
31	YY1	chr1:114471477-114472859	GM12892	blood:	n/a	chr1:114472195-114472209 chr1:114472519-114472530 chr1:114472663-114472677 chr1:114472259-114472270 chr1:114472476-114472490
32	GABPA	chr1:114470713-114473802	MCF-7	breast:	n/a	chr1:114472320-114472329
33	CTCF	chr1:114472620-114472770	RPTEC	kidney:	n/a	chr1:114472663-114472676
34	CTCF	chr1:114472620-114472759	NHEK	skin:	n/a	chr1:114472663-114472676
35	CTCF	chr1:114472620-114472770	GM12870	blood:	n/a	chr1:114472663-114472676
36	CTCF	chr1:114472560-114472710	Caco-2	colon:	n/a	chr1:114472663-114472676
37	CTCF	chr1:114472600-114472750	GM12864	blood:	n/a	chr1:114472663-114472676
38	POLR2A	chr1:114470824-114473119	Raji	blood:	n/a	n/a
39	SMARCC1	chr1:114471417-114473585	Hela-S3	cervix:	n/a	n/a
40	TBP	chr1:114470891-114473736	K562	blood:	n/a	n/a
41	ZBTB7A	chr1:114471843-114472840	K562	blood:	n/a	n/a
42	CTCF	chr1:114472579-114472746	ProgFib	skin:	n/a	chr1:114472663-114472676
43	CTCF	chr1:114472560-114472710	HPAF	blood vessel:	n/a	chr1:114472663-114472676
44	CTCF	chr1:114472593-114472735	GM10266	blood:	n/a	chr1:114472663-114472676
45	POLR2A	chr1:114470968-114472954	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:114471669-114473531	NB4	blood:	n/a	n/a
47	CTCF	chr1:114472580-114472730	HCM	heart:	n/a	chr1:114472663-114472676
48	POLR2A	chr1:114470515-114473570	K562	blood:	n/a	n/a
49	ZNF384	chr1:114471741-114474455	K562	blood:	n/a	chr1:114472880-114472888
50	CTCF	chr1:114472620-114472770	GM12872	blood:	n/a	chr1:114472663-114472676

No.	Distal block	Cell Line	Cell type
1	chr1:114471153..114473640-chr17:59476771..59478545,2	MCF-7	breast:
2	chr1:114447396..114448619-chr1:114471602..114472886,11	MCF-7	breast:
3	chr1:108289707..108293879-chr1:114470865..114473423,4	MCF-7	breast:
4	chr1:114447452..114448400-chr1:114471566..114472757,4	Hela-S3	cervix:
5	chr1:114472004..114474163-chr17:56707756..56710387,2	MCF-7	breast:
6	chr1:114472262..114473380-chr1:114505771..114506776,3	MCF-7	breast:
7	chr1:114471318..114473682-chr17:59475992..59478676,2	MCF-7	breast:
8	chr1:114353086..114356383-chr1:114467552..114475359,15	MCF-7	breast:
9	chr1:114299235..114302663-chr1:114470274..114473459,3	K562	blood:
10	chr1:114300069..114302951-chr1:114469985..114474355,4	MCF-7	breast:
11	chr1:114447415..114448376-chr1:114471694..114473083,5	MCF-7	breast:
12	chr1:114351760..114356326-chr1:114471041..114474785,9	K562	blood:
13	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
14	chr1:114301163..114303418-chr1:114471834..114473459,2	K562	blood:
15	chr1:114469554..114476691-chr1:114493097..114498363,7	MCF-7	breast:
16	chr1:114447790..114448383-chr1:114471947..114472675,2	NB4	blood:
17	chr1:114447178..114448996-chr1:114471115..114472973,22	MCF-7	breast:
18	chr1:114300200..114301915-chr1:114470901..114473894,2	MCF-7	breast:
19	chr1:108741161..108744200-chr1:114469971..114473274,3	MCF-7	breast:
20	chr1:114447369..114448385-chr1:114471257..114473158,18	MCF-7	breast:
21	chr1:114352160..114355349-chr1:114470537..114474785,4	K562	blood:
22	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
23	chr1:114470673..114473075-chr16:450178..453136,2	MCF-7	breast:
24	chr1:114439933..114443921-chr1:114470851..114474658,5	K562	blood:
25	chr1:114352067..114356642-chr1:114470131..114477025,16	MCF-7	breast:
26	chr1:114471506..114473104-chr1:114522240..114523784,2	K562	blood:

Variant related genes	Relation type
ENSG00000235527	TF binding region
HIPK1	TF binding region
ENSG00000118655	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000085491	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000242612	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000134215	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000260879	Chromatin interaction
ENSG00000116774	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10494162	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10494163	0.81[ASN][1000 genomes]
rs11102703	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11102706	0.87[ASN][1000 genomes]
rs11102708	0.84[ASN][1000 genomes]
rs11102709	0.83[ASN][1000 genomes]
rs12060750	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12125546	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12127377	0.89[ASN][1000 genomes]
rs12129050	0.84[ASN][1000 genomes]
rs1217444	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1503832	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1553449	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1553450	0.89[ASN][1000 genomes]
rs17852555	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1910485	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1985435	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985436	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41302825	0.85[ASN][1000 genomes]
rs6537800	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6669370	0.85[ASN][1000 genomes]
rs6674384	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7364	0.81[ASN][1000 genomes]
rs7519860	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7545300	0.82[ASN][1000 genomes]
rs7546851	0.91[ASN][1000 genomes]
rs878129	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv3349186	chr1:114471379-114473627	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs756493	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114470800-114473400	Active TSS	Fetal Intestine Large	intestine
2	chr1:114470800-114473400	Active TSS	Fetal Intestine Small	intestine
3	chr1:114470800-114474000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:114470800-114474200	Active TSS	Aorta	Aorta
5	chr1:114470800-114476200	Active TSS	Thymus	Thymus
6	chr1:114471000-114473000	Active TSS	Placenta	Placenta
7	chr1:114471000-114473000	Active TSS	Right Ventricle	heart
8	chr1:114471000-114473200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:114471000-114473200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:114471000-114473400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:114471000-114473400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:114471000-114473400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:114471000-114473400	Active TSS	Stomach Mucosa	stomach
14	chr1:114471000-114473400	Bivalent/Poised TSS	HepG2	liver
15	chr1:114471000-114473600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:114471000-114473600	Active TSS	Ovary	ovary
17	chr1:114471000-114473600	Active TSS	HSMM	muscle
18	chr1:114471000-114473800	Active TSS	Colonic Mucosa	Colon
19	chr1:114471000-114473800	Active TSS	NHDF-Ad	bronchial
20	chr1:114471000-114474000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:114471000-114474200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:114471000-114474200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:114471000-114474800	Active TSS	GM12878-XiMat	blood
24	chr1:114471200-114473200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:114471200-114473200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:114471200-114473400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:114471200-114473400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:114471200-114473400	Active TSS	Placenta Amnion	Placenta Amnion
29	chr1:114471200-114473600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:114471200-114473600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:114471200-114473600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:114471200-114473600	Active TSS	Fetal Muscle Trunk	muscle
33	chr1:114471200-114473600	Active TSS	Lung	lung
34	chr1:114471200-114473600	Active TSS	Pancreas	Pancrea
35	chr1:114471200-114473800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:114471200-114474000	Active TSS	K562	blood
37	chr1:114471200-114474200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr1:114471200-114474400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:114471200-114474800	Active TSS	Psoas Muscle	Psoas
40	chr1:114471400-114472800	Active TSS	Fetal Brain Female	brain
41	chr1:114471400-114473000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:114471400-114473000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:114471400-114473000	Active TSS	Brain Angular Gyrus	brain
44	chr1:114471400-114473000	Active TSS	Brain Hippocampus Middle	brain
45	chr1:114471400-114473200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:114471400-114473200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:114471400-114473200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:114471400-114473200	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr1:114471400-114473200	Active TSS	Brain Cingulate Gyrus	brain
50	chr1:114471400-114473200	Active TSS	Brain Germinal Matrix	brain

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