Variant report

Variant	rs35028518
Chromosome Location	chr10:980785-980786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:980532-981462	HepG2	liver:	n/a	chr10:980795-980806
2	MAX	chr10:980635-981453	HepG2	liver:	n/a	chr10:980795-980806
3	HNF4A	chr10:980706-981015	HepG2	liver:	n/a	chr10:980943-980951 chr10:980937-980952 chr10:980935-980953 chr10:980938-980950 chr10:980937-980952 chr10:980937-980952 chr10:980936-980951
4	HNF4A	chr10:980747-981290	HepG2	liver:	n/a	chr10:980943-980951 chr10:980937-980952 chr10:980935-980953 chr10:980938-980950 chr10:980937-980952 chr10:980937-980952 chr10:981162-981176 chr10:981162-981177 chr10:980936-980951
5	POLR2A	chr10:980713-981409	HepG2	liver:	n/a	n/a
6	EP300	chr10:980707-981276	HepG2	liver:	n/a	n/a
7	MAX	chr10:980740-980978	HepG2	liver:	n/a	chr10:980795-980806
8	MXI1	chr10:980700-981194	HepG2	liver:	n/a	n/a
9	MAX	chr10:980723-980936	K562	blood:	n/a	chr10:980795-980806
10	CTCF	chr10:980720-980870	RPTEC	kidney:	n/a	n/a
11	CTCF	chr10:980760-980910	GM12868	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:980765-980815	HCF	heart:	n/a
2	chr10:980765-980815	HL-60	blood:	n/a
3	chr10:980765-980815	NT2-D1	testis:	n/a
4	chr10:980765-980815	ovcar-3	ovarian:	n/a
5	chr10:980765-980815	PrEC	prostate:	n/a
6	chr10:980765-980815	HPAEpiC	pulmonary alveolar:	n/a
7	chr10:980765-980815	GM12892	blood:	n/a
8	chr10:980765-980815	HNPCEpiC	eye:	n/a
9	chr10:980765-980815	IMR90	lung:	fetal
10	chr10:980765-980815	GM12891	blood:	n/a
11	chr10:980765-980815	PANC-1	pancreas:	n/a
12	chr10:980765-980815	AG09319	gingival:	n/a
13	chr10:980765-980815	GM19239	blood:	n/a
14	chr10:980765-980815	SK-N-SH_RA	brain:	n/a
15	chr10:980765-980815	BE2_C	brain:	n/a
16	chr10:980765-980815	Hela-S3	cervix:	n/a
17	chr10:980765-980815	ProgFib	skin:	n/a
18	chr10:980765-980815	AG04450	lung:	fetal
19	chr10:980765-980815	MCF-7	breast:	n/a
20	chr10:980765-980815	AG04449	skin:	fetal
21	chr10:980765-980815	Caco-2	colon:	n/a
22	chr10:980765-980815	A549	lung:	n/a
23	chr10:980765-980815	NB4	blood:	n/a
24	chr10:980765-980815	GM12878	blood:	n/a
25	chr10:980765-980815	SK-N-SH	brain:	n/a
26	chr10:980765-980815	HCT-116	colon:	n/a
27	chr10:980765-980815	NH-A	brain:	n/a
28	chr10:980765-980815	GM06990	blood:	n/a
29	chr10:980765-980815	PFSK-1	brain:	n/a
30	chr10:980765-980815	SK-N-MC	brain:	n/a
31	chr10:980765-980815	U87	brain:	n/a
32	chr10:980765-980815	Jurkat	blood:	n/a
33	chr10:980765-980815	HAEpiC	amniotic membrane:	n/a
34	chr10:980765-980815	HEEpiC	esophagus:	n/a
35	chr10:980765-980815	AoSMC	blood vessel:	n/a
36	chr10:980765-980815	K562	blood:	n/a
37	chr10:980765-980815	SKMC	muscle:	n/a
38	chr10:980765-980815	HMEC	breast:	n/a
39	chr10:980765-980815	HRPEpiC	eye:	n/a
40	chr10:980765-980815	BJ	skin:	n/a
41	chr10:980765-980815	HRCEpiC	kidney:	n/a
42	chr10:980765-980815	HepG2	liver:	n/a
43	chr10:980765-980815	NHDF-neo	bronchial:	n/a
44	chr10:980765-980815	HUVEC	blood vessel:	n/a
45	chr10:980765-980815	LNCaP	prostate:	n/a
46	chr10:980765-980815	HIPEpiC	eye:	n/a
47	chr10:980765-980815	ECC-1	luminal epithelium:	n/a
48	chr10:980765-980815	AG09309	skin:	n/a
49	chr10:980765-980815	HEK293	kidney:	embryo
50	chr10:980765-980815	T-47D	breast:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:975309..980832-chr10:1031626..1035973,12	K562	blood:
2	chr10:976647..980794-chr10:1093154..1097319,8	MCF-7	breast:
3	chr10:979434..982350-chr10:995576..997645,2	MCF-7	breast:
4	chr10:974636..980819-chr10:1029938..1037009,15	MCF-7	breast:
5	chr10:980753..982426-chr17:57919026..57921181,2	MCF-7	breast:
6	chr10:980642..983775-chr10:1008969..1010804,3	K562	blood:

No data

Variant related genes	Relation type
LARP4B	TF binding region
LARP4B	CpG island
ENSG00000067064	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000205740	Chromatin interaction
ENSG00000047056	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1013504	1.00[ASN][1000 genomes]
rs10903358	1.00[ASN][1000 genomes]
rs10904557	1.00[ASN][1000 genomes]
rs10904558	1.00[ASN][1000 genomes]
rs10904564	1.00[ASN][1000 genomes]
rs10904565	1.00[ASN][1000 genomes]
rs10904566	1.00[ASN][1000 genomes]
rs11253396	1.00[ASN][1000 genomes]
rs11253397	1.00[ASN][1000 genomes]
rs11253398	1.00[ASN][1000 genomes]
rs11253399	1.00[ASN][1000 genomes]
rs11253401	1.00[ASN][1000 genomes]
rs11253403	1.00[ASN][1000 genomes]
rs11253414	1.00[ASN][1000 genomes]
rs11253419	1.00[ASN][1000 genomes]
rs11253420	1.00[ASN][1000 genomes]
rs11253421	1.00[ASN][1000 genomes]
rs11253424	1.00[ASN][1000 genomes]
rs11253425	1.00[ASN][1000 genomes]
rs11253430	1.00[ASN][1000 genomes]
rs11253434	1.00[ASN][1000 genomes]
rs11253435	1.00[ASN][1000 genomes]
rs11253440	1.00[ASN][1000 genomes]
rs11253441	1.00[ASN][1000 genomes]
rs11253504	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253518	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253530	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253537	1.00[ASN][1000 genomes]
rs11253538	1.00[ASN][1000 genomes]
rs11253539	1.00[ASN][1000 genomes]
rs11253540	1.00[ASN][1000 genomes]
rs11253549	1.00[ASN][1000 genomes]
rs11253550	1.00[ASN][1000 genomes]
rs11253557	1.00[ASN][1000 genomes]
rs11253558	1.00[ASN][1000 genomes]
rs11253559	1.00[ASN][1000 genomes]
rs11253560	1.00[ASN][1000 genomes]
rs11595057	1.00[ASN][1000 genomes]
rs11595385	1.00[ASN][1000 genomes]
rs12354914	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356155	1.00[ASN][1000 genomes]
rs12356612	1.00[ASN][1000 genomes]
rs12357633	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12358255	1.00[ASN][1000 genomes]
rs12359796	1.00[ASN][1000 genomes]
rs1250891	1.00[ASN][1000 genomes]
rs12761180	1.00[ASN][1000 genomes]
rs12762228	1.00[ASN][1000 genomes]
rs12765343	1.00[ASN][1000 genomes]
rs12767043	1.00[ASN][1000 genomes]
rs12767062	1.00[ASN][1000 genomes]
rs12768348	1.00[ASN][1000 genomes]
rs12769002	1.00[ASN][1000 genomes]
rs12770173	1.00[ASN][1000 genomes]
rs12771179	1.00[ASN][1000 genomes]
rs12771539	1.00[ASN][1000 genomes]
rs12771845	1.00[ASN][1000 genomes]
rs12772979	1.00[ASN][1000 genomes]
rs12773961	1.00[ASN][1000 genomes]
rs12774985	1.00[ASN][1000 genomes]
rs12776447	1.00[ASN][1000 genomes]
rs12777021	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12777800	1.00[ASN][1000 genomes]
rs12777801	1.00[ASN][1000 genomes]
rs12778271	1.00[ASN][1000 genomes]
rs12781100	1.00[ASN][1000 genomes]
rs12781329	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782936	1.00[ASN][1000 genomes]
rs1536336	1.00[ASN][1000 genomes]
rs17221456	1.00[ASN][1000 genomes]
rs17221463	1.00[ASN][1000 genomes]
rs17221491	1.00[ASN][1000 genomes]
rs17293580	1.00[ASN][1000 genomes]
rs17293608	1.00[ASN][1000 genomes]
rs1871621	1.00[ASN][1000 genomes]
rs1871622	1.00[ASN][1000 genomes]
rs2253475	1.00[ASN][1000 genomes]
rs28512382	1.00[ASN][1000 genomes]
rs34115136	1.00[ASN][1000 genomes]
rs34159706	1.00[ASN][1000 genomes]
rs34251037	1.00[ASN][1000 genomes]
rs34270668	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34318754	1.00[ASN][1000 genomes]
rs34383514	1.00[ASN][1000 genomes]
rs34480046	1.00[ASN][1000 genomes]
rs34487581	1.00[ASN][1000 genomes]
rs34527494	1.00[ASN][1000 genomes]
rs34778553	1.00[ASN][1000 genomes]
rs34848170	1.00[ASN][1000 genomes]
rs34885925	1.00[ASN][1000 genomes]
rs34982663	1.00[ASN][1000 genomes]
rs35306767	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35342920	1.00[ASN][1000 genomes]
rs35363972	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35443149	1.00[ASN][1000 genomes]
rs35666723	1.00[ASN][1000 genomes]
rs35667562	1.00[ASN][1000 genomes]
rs35670857	1.00[ASN][1000 genomes]
rs35709890	1.00[ASN][1000 genomes]
rs35957139	1.00[ASN][1000 genomes]
rs35967867	1.00[ASN][1000 genomes]
rs41260144	1.00[ASN][1000 genomes]
rs55697724	1.00[ASN][1000 genomes]
rs55708963	1.00[ASN][1000 genomes]
rs55742421	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222464	1.00[ASN][1000 genomes]
rs61830900	1.00[ASN][1000 genomes]
rs61830926	1.00[ASN][1000 genomes]
rs61830931	1.00[ASN][1000 genomes]
rs61830933	1.00[ASN][1000 genomes]
rs61831436	1.00[ASN][1000 genomes]
rs61833260	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61833265	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66462130	1.00[ASN][1000 genomes]
rs66797613	1.00[ASN][1000 genomes]
rs67205460	1.00[ASN][1000 genomes]
rs67696450	1.00[ASN][1000 genomes]
rs7070876	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7071974	1.00[ASN][1000 genomes]
rs7071982	1.00[ASN][1000 genomes]
rs7072970	1.00[ASN][1000 genomes]
rs7085476	1.00[ASN][1000 genomes]
rs7088956	1.00[ASN][1000 genomes]
rs7092353	1.00[ASN][1000 genomes]
rs7093665	1.00[ASN][1000 genomes]
rs7094031	1.00[ASN][1000 genomes]
rs72778228	1.00[ASN][1000 genomes]
rs7914758	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv1043812	chr10:776547-981126	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv540406	chr10:776547-981126	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	41 gene(s)	inside rSNPs	diseases
9	nsv948978	chr10:813426-1019115	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv825207	chr10:957020-1005451	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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 target site	39 gene(s)	inside rSNPs	diseases
17	nsv825208	chr10:965883-1004836	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:978200-985000	Weak transcription	Spleen	Spleen
2	chr10:978200-985400	Weak transcription	Brain Angular Gyrus	brain
3	chr10:978400-980800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:978400-982200	Weak transcription	Lung	lung
5	chr10:978400-982200	Weak transcription	GM12878-XiMat	blood
6	chr10:978400-982400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr10:978400-984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:978400-985800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:979000-980800	Weak transcription	Left Ventricle	heart
10	chr10:979200-981000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:979200-983200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:979200-984800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:979400-980800	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:979400-981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:979400-983000	Weak transcription	Placenta	Placenta
16	chr10:979400-983800	Weak transcription	Psoas Muscle	Psoas
17	chr10:979800-985000	Weak transcription	Dnd41	blood
18	chr10:980000-985000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:980600-981200	Enhancers	Fetal Kidney	kidney
20	chr10:980600-981600	Flanking Active TSS	HepG2	liver

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