Variant report

Variant	rs73034362
Chromosome Location	chr2:179262044-179262045
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr2:179261806-179262139	K562	blood:	n/a	n/a
2	CTCF	chr2:179261819-179262048	GM10248	blood:	n/a	n/a
3	CTCF	chr2:179261776-179262051	Lung_OC	lung:	n/a	n/a
4	CTCF	chr2:179261777-179262053	Medullo	brain:	n/a	n/a
5	RAD21	chr2:179261784-179262085	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr2:179261721-179262176	A549	lung:	n/a	n/a
7	MAZ	chr2:179261813-179262237	GM12878	blood:	n/a	n/a
8	RCOR1	chr2:179261783-179262096	GM12878	blood:	n/a	n/a
9	CEBPB	chr2:179261774-179262104	A549	lung:	n/a	chr2:179261930-179261941
10	RAD21	chr2:179261695-179262244	HCT-116	colon:	n/a	n/a
11	CTCF	chr2:179261900-179262050	A549	lung:	n/a	n/a
12	CTCF	chr2:179261750-179262269	HCT-116	colon:	n/a	n/a
13	CTCF	chr2:179261818-179262044	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr2:179261756-179262099	Hela-S3	cervix:	n/a	chr2:179261930-179261941
15	MAFK	chr2:179261714-179262091	IMR90	lung:	n/a	n/a
16	RAD21	chr2:179261777-179262051	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:179261337-179262521	A549	lung:	n/a	n/a
18	CTCF	chr2:179261756-179262052	A549	lung:	n/a	n/a
19	RAD21	chr2:179261790-179262122	GM12878	blood:	n/a	n/a
20	ZC3H11A	chr2:179261864-179262117	K562	blood:	n/a	n/a
21	MAFK	chr2:179261758-179262089	K562	blood:	n/a	n/a
22	CEBPB	chr2:179261763-179262113	HepG2	liver:	n/a	chr2:179261930-179261941
23	RAD21	chr2:179261753-179262110	Hela-S3	cervix:	n/a	n/a
24	ZNF143	chr2:179261770-179262114	GM12878	blood:	n/a	n/a
25	CTCF	chr2:179261803-179262060	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr2:179261816-179262048	Gliobla	brain:	n/a	n/a
27	MAFK	chr2:179261721-179262091	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr2:179261905-179262136	MCF10A-Er-Src	breast:	n/a	n/a
29	SMC3	chr2:179261736-179262116	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr2:179261746-179262169	HepG2	liver:	n/a	n/a
31	KAP1	chr2:179261812-179262229	U2OS	brain:	n/a	n/a
32	ARID3A	chr2:179261736-179262091	HepG2	liver:	n/a	n/a
33	ZNF384	chr2:179261780-179262090	K562	blood:	n/a	n/a
34	SMC3	chr2:179261714-179262330	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr2:179261920-179262070	MCF-7	breast:	n/a	n/a
36	SMC3	chr2:179261787-179262070	K562	blood:	n/a	n/a
37	CEBPB	chr2:179261768-179262106	IMR90	lung:	n/a	chr2:179261930-179261941
38	CTCF	chr2:179261779-179262059	HepG2	liver:	n/a	n/a
39	RAD21	chr2:179261646-179262182	A549	lung:	n/a	n/a
40	RAD21	chr2:179261806-179262120	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr2:179261514-179262151	K562	blood:	n/a	n/a
42	RAD21	chr2:179261653-179262137	HepG2	liver:	n/a	n/a
43	MAZ	chr2:179261787-179262085	K562	blood:	n/a	n/a
44	CTCF	chr2:179261779-179262072	Spleen_OC	spleen:	n/a	n/a
45	RAD21	chr2:179261501-179262336	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr2:179261724-179262115	IMR90	lung:	n/a	n/a
47	RAD21	chr2:179261750-179262099	IMR90	lung:	n/a	n/a
48	MAFF	chr2:179261721-179262098	HepG2	liver:	n/a	chr2:179261882-179261900
49	CTCF	chr2:179261685-179262078	MCF-7	breast:	n/a	n/a
50	JUND	chr2:179261826-179262098	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179261834..179262429-chr2:179387347..179387885,2	MCF-7	breast:
2	chr2:179261524..179262359-chr2:179279136..179280035,4	MCF-7	breast:
3	chr2:178997683..178998228-chr2:179261829..179262407,2	K562	blood:
4	chr2:179261600..179262372-chr2:179360345..179361019,2	MCF-7	breast:
5	chr2:179261404..179262451-chr2:179279050..179279981,4	K562	blood:
6	chr12:122249555..122250118-chr2:179261422..179262180,2	K562	blood:
7	chr2:179170816..179171330-chr2:179261505..179262449,2	MCF-7	breast:
8	chr2:179260703..179263826-chr2:179272434..179275174,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260931	TF binding region
ENSG00000237298	Chromatin interaction
ENSG00000116095	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10497515	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10497516	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12612917	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12615980	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12616943	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12619401	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16866323	1.00[EUR][1000 genomes]
rs2276619	1.00[EUR][1000 genomes]
rs2276620	1.00[EUR][1000 genomes]
rs3731756	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3731758	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765020	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816073	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4491754	1.00[EUR][1000 genomes]
rs55714261	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55821514	0.88[ASN][1000 genomes]
rs56065555	0.94[EUR][1000 genomes]
rs56233214	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56357262	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56839647	0.84[AFR][1000 genomes]
rs59265316	0.96[AFR][1000 genomes]
rs6734446	1.00[EUR][1000 genomes]
rs6736173	1.00[EUR][1000 genomes]
rs6736304	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73034339	0.94[EUR][1000 genomes]
rs73034346	1.00[EUR][1000 genomes]
rs73034347	0.96[AFR][1000 genomes]
rs73034350	0.96[AFR][1000 genomes]
rs73034356	0.96[AFR][1000 genomes]
rs73034359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034366	0.98[AFR][1000 genomes]
rs73034373	0.93[AFR][1000 genomes]
rs73034375	0.81[AFR][1000 genomes]
rs73034377	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7584420	0.94[EUR][1000 genomes];0.95[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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179201800-179268200	Weak transcription	HSMM	muscle
2	chr2:179241800-179262600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:179249000-179262600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:179249000-179269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:179249600-179264000	Weak transcription	Aorta	Aorta
6	chr2:179250800-179266000	Weak transcription	K562	blood
7	chr2:179251000-179268600	Weak transcription	NH-A	brain
8	chr2:179252200-179264200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:179253200-179269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:179253600-179262800	Weak transcription	Liver	Liver
11	chr2:179253600-179266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:179255000-179269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:179255200-179262200	Weak transcription	HSMMtube	muscle
14	chr2:179255400-179262200	Weak transcription	Fetal Brain Female	brain
15	chr2:179255400-179265000	Weak transcription	Psoas Muscle	Psoas
16	chr2:179255600-179268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:179256000-179269200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:179256200-179269200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:179256200-179269200	Weak transcription	HMEC	breast
20	chr2:179257400-179266800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:179260200-179262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:179261000-179266800	Weak transcription	NHDF-Ad	bronchial
23	chr2:179261200-179268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:179262000-179262200	Enhancers	Brain Anterior Caudate	brain
25	chr2:179262000-179262200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:179262000-179262200	Enhancers	GM12878-XiMat	blood
27	chr2:179262000-179262400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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