Variant report

Variant	rs28503372
Chromosome Location	chr2:72377384-72377385
allele	A/G
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	CTCF	chr2:72377300-72377403	GM19238	blood:	n/a	n/a
2	SMC3	chr2:72376645-72378392	SK-N-SH	brain:	n/a	chr2:72377064-72377078 chr2:72378074-72378088
3	RAD21	chr2:72377237-72378324	MCF-7	breast:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
4	SUZ12	chr2:72375988-72377693	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr2:72377148-72377950	A549	lung:	n/a	chr2:72377322-72377336
6	RAD21	chr2:72377030-72378384	A549	lung:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
7	RAD21	chr2:72377230-72378285	SK-N-SH_RA	brain:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
8	RFX5	chr2:72377309-72377715	HepG2	liver:	n/a	n/a
9	SUZ12	chr2:72375968-72377799	NT2-D1	testis:	n/a	n/a
10	RAD21	chr2:72377227-72378237	ECC-1	luminal epithelium:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
11	E2F6	chr2:72376039-72377812	A549	lung:	n/a	n/a
12	RAD21	chr2:72377287-72378246	HepG2	liver:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
13	SP1	chr2:72377268-72377899	A549	lung:	n/a	chr2:72377322-72377336
14	SMC3	chr2:72377252-72378131	HepG2	liver:	n/a	chr2:72378074-72378088
15	RAD21	chr2:72377347-72378118	HepG2	liver:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
16	CTCF	chr2:72377351-72377971	MCF-7	breast:	n/a	chr2:72377658-72377667
17	CTCF	chr2:72377260-72377410	AG10803	skin:	n/a	n/a
18	RAD21	chr2:72376829-72378435	SK-N-SH	brain:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
19	RAD21	chr2:72377271-72378202	H1-hESC	embryonic stem cell:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
20	MAX	chr2:72371598-72378199	A549	lung:	n/a	chr2:72377135-72377144 chr2:72372838-72372848 chr2:72372537-72372547 chr2:72374470-72374480 chr2:72375058-72375068 chr2:72376080-72376090 chr2:72374306-72374316
21	MAZ	chr2:72377300-72377990	K562	blood:	n/a	n/a
22	CTCF	chr2:72377171-72378368	HCT-116	colon:	n/a	chr2:72378072-72378090 chr2:72378074-72378095 chr2:72377658-72377667 chr2:72378073-72378089
23	RAD21	chr2:72377313-72378187	A549	lung:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
24	ZNF263	chr2:72376991-72377757	HEK293-T-REx	kidney:	n/a	n/a
25	CTCF	chr2:72377276-72377387	GM12891	blood:	n/a	n/a
26	CTCF	chr2:72377260-72377410	GM12867	blood:	n/a	n/a
27	RAD21	chr2:72377178-72378372	HCT-116	colon:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
28	CTCF	chr2:72377367-72378244	HepG2	liver:	n/a	chr2:72378072-72378090 chr2:72378074-72378095 chr2:72377658-72377667 chr2:72378073-72378089
29	ZNF143	chr2:72377218-72377811	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr2:72376230-72377779	ECC-1	luminal epithelium:	n/a	chr2:72377135-72377144
31	CTCF	chr2:72376337-72378708	A549	lung:	n/a	chr2:72378072-72378090 chr2:72378074-72378095 chr2:72376587-72376600 chr2:72377658-72377667 chr2:72378073-72378089 chr2:72377065-72377078
32	POLR2A	chr2:72376923-72377792	H1-neurons	neurons:	n/a	n/a
33	RAD21	chr2:72377267-72378340	A549	lung:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
34	SIN3AK20	chr2:72377061-72377710	A549	lung:	n/a	n/a
35	CTCF	chr2:72377331-72377938	A549	lung:	n/a	chr2:72377658-72377667
36	POLR2A	chr2:72377078-72377895	Hela-S3	cervix:	n/a	n/a
37	BCL3	chr2:72376921-72378279	A549	lung:	n/a	chr2:72376958-72376971
38	RAD21	chr2:72377367-72377838	ECC-1	luminal epithelium:	n/a	chr2:72377659-72377668
39	FOXA2	chr2:72376757-72377843	A549	lung:	n/a	n/a
40	RAD21	chr2:72377169-72378285	MCF-7	breast:	n/a	chr2:72378073-72378092 chr2:72377659-72377668
41	MAX	chr2:72376222-72377830	ECC-1	luminal epithelium:	n/a	chr2:72377135-72377144
42	CTCF	chr2:72377300-72377418	GM19239	blood:	n/a	n/a
43	TCF12	chr2:72375012-72378329	A549	lung:	n/a	chr2:72377118-72377125 chr2:72377018-72377027 chr2:72377343-72377353
44	POLR2A	chr2:72376862-72377770	H1-neurons	neurons:	n/a	n/a
45	ZKSCAN1	chr2:72377269-72377750	Hela-S3	cervix:	n/a	n/a
46	SMC3	chr2:72377311-72378284	Hela-S3	cervix:	n/a	chr2:72378074-72378088
47	RAD21	chr2:72377112-72378071	IMR90	lung:	n/a	chr2:72377659-72377668
48	USF2	chr2:72377321-72377556	HepG2	liver:	n/a	n/a
49	FOSL2	chr2:72377060-72378190	A549	lung:	n/a	n/a
50	CTCF	chr2:72377380-72377853	K562	blood:	n/a	chr2:72377658-72377667

No.	Distal block	Cell Line	Cell type
1	chr2:71775514..71776291-chr2:72377222..72378256,3	MCF-7	breast:
2	chr2:72375894..72377452-chr2:72802054..72803816,2	MCF-7	breast:
3	chr2:72373378..72375248-chr2:72375782..72378239,2	K562	blood:
4	chr2:72377204..72379877-chr2:72380463..72383459,3	MCF-7	breast:
5	chr2:72028780..72029304-chr2:72377142..72377668,2	MCF-7	breast:
6	chr2:72028908..72029874-chr2:72377185..72378148,5	K562	blood:
7	chr2:72377339..72378675-chr2:72806432..72807386,5	MCF-7	breast:
8	chr2:72342481..72343002-chr2:72377243..72378029,2	MCF-7	breast:
9	chr2:72150758..72151644-chr2:72377122..72377984,3	MCF-7	breast:
10	chr2:72150816..72151705-chr2:72377178..72378139,6	MCF-7	breast:
11	chr2:72368510..72373839-chr2:72374615..72379122,7	MCF-7	breast:
12	chr2:72160749..72161681-chr2:72377188..72378098,6	MCF-7	breast:
13	chr2:72098804..72099311-chr2:72377199..72378032,2	MCF-7	breast:
14	chr2:72150800..72151677-chr2:72377276..72378106,3	K562	blood:
15	chr2:71775510..71776018-chr2:72377254..72377932,2	MCF-7	breast:
16	chr2:71775478..71776768-chr2:72377188..72378065,4	K562	blood:
17	chr2:72029603..72032289-chr2:72375774..72377682,2	MCF-7	breast:
18	chr2:72376084..72377923-chr2:72805455..72808072,2	K562	blood:
19	chr2:72028920..72029690-chr2:72376955..72377751,3	MCF-7	breast:
20	chr2:72222448..72223171-chr2:72377349..72378216,3	MCF-7	breast:

Variant related genes	Relation type
CYP26B1	TF binding region
ENSG00000003137	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10173152	1.00[ASN][1000 genomes]
rs10193621	1.00[ASN][1000 genomes]
rs10197528	1.00[ASN][1000 genomes]
rs10203221	1.00[ASN][1000 genomes]
rs10207869	1.00[ASN][1000 genomes]
rs1079144	1.00[ASN][1000 genomes]
rs11680197	1.00[ASN][1000 genomes]
rs11681845	1.00[ASN][1000 genomes]
rs11682749	1.00[ASN][1000 genomes]
rs11684981	1.00[ASN][1000 genomes]
rs11685903	1.00[ASN][1000 genomes]
rs11884225	1.00[ASN][1000 genomes]
rs11884869	1.00[ASN][1000 genomes]
rs11890482	1.00[ASN][1000 genomes]
rs11891573	1.00[ASN][1000 genomes]
rs11894521	1.00[ASN][1000 genomes]
rs11899270	1.00[ASN][1000 genomes]
rs11899672	1.00[ASN][1000 genomes]
rs11902051	1.00[ASN][1000 genomes]
rs11903453	1.00[ASN][1000 genomes]
rs11903908	1.00[ASN][1000 genomes]
rs11903912	1.00[ASN][1000 genomes]
rs13411648	1.00[ASN][1000 genomes]
rs1387	1.00[ASN][1000 genomes]
rs1517179	1.00[ASN][1000 genomes]
rs17007922	1.00[ASN][1000 genomes]
rs17007926	1.00[ASN][1000 genomes]
rs17007939	1.00[ASN][1000 genomes]
rs17007984	1.00[ASN][1000 genomes]
rs17008057	1.00[ASN][1000 genomes]
rs17008082	1.00[ASN][1000 genomes]
rs1914339	1.00[ASN][1000 genomes]
rs34172703	1.00[ASN][1000 genomes]
rs35064163	1.00[ASN][1000 genomes]
rs55700162	1.00[ASN][1000 genomes]
rs55714718	1.00[ASN][1000 genomes]
rs55939880	1.00[ASN][1000 genomes]
rs56173504	1.00[ASN][1000 genomes]
rs56178437	1.00[ASN][1000 genomes]
rs56184446	1.00[ASN][1000 genomes]
rs56718524	1.00[ASN][1000 genomes]
rs57286048	1.00[ASN][1000 genomes]
rs57730885	1.00[ASN][1000 genomes]
rs58035683	1.00[ASN][1000 genomes]
rs58582296	1.00[ASN][1000 genomes]
rs59974816	1.00[ASN][1000 genomes]
rs60806585	1.00[ASN][1000 genomes]
rs60872571	1.00[ASN][1000 genomes]
rs60977474	1.00[ASN][1000 genomes]
rs61037557	1.00[ASN][1000 genomes]
rs61448485	1.00[ASN][1000 genomes]
rs6546751	1.00[ASN][1000 genomes]
rs6546754	1.00[ASN][1000 genomes]
rs6546761	1.00[ASN][1000 genomes]
rs6546763	1.00[ASN][1000 genomes]
rs6546769	1.00[ASN][1000 genomes]
rs66539158	1.00[ASN][1000 genomes]
rs66560019	1.00[ASN][1000 genomes]
rs66827358	1.00[ASN][1000 genomes]
rs66888584	1.00[ASN][1000 genomes]
rs66920016	1.00[ASN][1000 genomes]
rs67085067	1.00[ASN][1000 genomes]
rs6709233	1.00[ASN][1000 genomes]
rs6709493	1.00[ASN][1000 genomes]
rs6711442	1.00[ASN][1000 genomes]
rs6717250	1.00[ASN][1000 genomes]
rs6717899	1.00[ASN][1000 genomes]
rs6718052	1.00[ASN][1000 genomes]
rs6723136	1.00[ASN][1000 genomes]
rs6723380	1.00[ASN][1000 genomes]
rs67235968	1.00[ASN][1000 genomes]
rs6724795	1.00[ASN][1000 genomes]
rs6727580	1.00[ASN][1000 genomes]
rs6731631	1.00[ASN][1000 genomes]
rs6731988	1.00[ASN][1000 genomes]
rs6735400	1.00[ASN][1000 genomes]
rs6738521	1.00[ASN][1000 genomes]
rs6740982	1.00[ASN][1000 genomes]
rs6746583	1.00[ASN][1000 genomes]
rs6746586	1.00[ASN][1000 genomes]
rs6755440	1.00[ASN][1000 genomes]
rs68172337	1.00[ASN][1000 genomes]
rs719119	1.00[ASN][1000 genomes]
rs719120	1.00[ASN][1000 genomes]
rs72835256	1.00[ASN][1000 genomes]
rs72835276	1.00[ASN][1000 genomes]
rs72841783	1.00[ASN][1000 genomes]
rs72841795	1.00[ASN][1000 genomes]
rs72904482	1.00[ASN][1000 genomes]
rs72908315	1.00[ASN][1000 genomes]
rs72908317	1.00[ASN][1000 genomes]
rs7558666	1.00[ASN][1000 genomes]
rs7559116	1.00[ASN][1000 genomes]
rs7565358	1.00[ASN][1000 genomes]
rs7569059	1.00[ASN][1000 genomes]
rs7571483	1.00[ASN][1000 genomes]
rs7575090	1.00[ASN][1000 genomes]
rs7575536	1.00[ASN][1000 genomes]
rs7577354	1.00[ASN][1000 genomes]
rs7577860	1.00[ASN][1000 genomes]
rs7583268	1.00[ASN][1000 genomes]
rs7585598	1.00[ASN][1000 genomes]
rs7587370	1.00[ASN][1000 genomes]
rs7591608	1.00[ASN][1000 genomes]
rs7592404	1.00[ASN][1000 genomes]
rs9309465	1.00[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	nsv582207	chr2:72329603-72389334	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72370000-72377400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:72373800-72377600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:72374000-72377400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr2:72374600-72377600	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr2:72375400-72377400	Active TSS	Brain Substantia Nigra	brain
6	chr2:72375400-72377400	Bivalent Enhancer	Fetal Heart	heart
7	chr2:72375800-72377600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:72375800-72377600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
9	chr2:72375800-72377600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr2:72375800-72377600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr2:72375800-72377800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:72375800-72378000	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr2:72376000-72377600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr2:72376200-72377400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:72376200-72377600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:72376200-72377600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
17	chr2:72376200-72377600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:72376200-72377600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
19	chr2:72376200-72377600	Flanking Active TSS	Right Ventricle	heart
20	chr2:72376200-72377600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
21	chr2:72376200-72377800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr2:72376200-72378000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:72376200-72378000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr2:72376400-72377400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
25	chr2:72376400-72377400	Flanking Active TSS	Esophagus	oesophagus
26	chr2:72376400-72377400	Flanking Bivalent TSS/Enh	A549	lung
27	chr2:72376400-72377600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:72376400-72377600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
30	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
31	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
40	chr2:72376400-72377600	Flanking Active TSS	Ovary	ovary
41	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
42	chr2:72376400-72377600	Flanking Active TSS	Right Atrium	heart
43	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
44	chr2:72376400-72377600	Flanking Bivalent TSS/Enh	NHEK	skin
45	chr2:72376400-72377800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
46	chr2:72376400-72378000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr2:72376600-72377400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:72376600-72377400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:72376600-72377400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:72376600-72378000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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