Variant report

Variant	rs11608792
Chromosome Location	chr12:122608209-122608210
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	chr12:122608180-122608330	GM12868	blood:	n/a	n/a
2	CTCF	chr12:122608202-122608271	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr12:122608120-122608270	GM12870	blood:	n/a	n/a
4	CTCF	chr12:122608200-122608350	AG04450	lung:	n/a	n/a
5	RAD21	chr12:122607460-122608336	HCT-116	colon:	n/a	chr12:122607917-122607936
6	RAD21	chr12:122607452-122608225	A549	lung:	n/a	chr12:122607917-122607936
7	CTCF	chr12:122608120-122608270	AG04449	skin:	n/a	n/a
8	CTCF	chr12:122607559-122608247	K562	blood:	n/a	chr12:122607920-122607936 chr12:122607914-122607935 chr12:122607919-122607937
9	RAD21	chr12:122607469-122608296	MCF-7	breast:	n/a	chr12:122607917-122607936
10	TCF12	chr12:122607519-122608223	A549	lung:	n/a	n/a
11	EP300	chr12:122607659-122608314	A549	lung:	n/a	chr12:122607860-122607876
12	CTCF	chr12:122608200-122608350	HepG2	liver:	n/a	n/a
13	CTCF	chr12:122607537-122608515	A549	lung:	n/a	chr12:122607920-122607936 chr12:122607914-122607935 chr12:122607919-122607937
14	CTCF	chr12:122608060-122608210	AG09309	skin:	n/a	n/a
15	RAD21	chr12:122607516-122608241	A549	lung:	n/a	chr12:122607917-122607936
16	RAD21	chr12:122607330-122608595	SK-N-SH	brain:	n/a	chr12:122607917-122607936 chr12:122608467-122608480
17	SMC3	chr12:122607389-122608651	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr12:122607530-122608258	HCT-116	colon:	n/a	chr12:122607920-122607936 chr12:122607914-122607935 chr12:122607919-122607937
19	CTCF	chr12:122608145-122608305	GM10266	blood:	n/a	n/a
20	CTCF	chr12:122608187-122608255	GM12878	blood:	n/a	n/a
21	CTCF	chr12:122607523-122608684	SK-N-SH	brain:	n/a	chr12:122607920-122607936 chr12:122607914-122607935 chr12:122607919-122607937
22	RAD21	chr12:122607473-122608348	HCT-116	colon:	n/a	chr12:122607917-122607936
23	CTCF	chr12:122608143-122608234	GM19239	blood:	n/a	n/a
24	BCL3	chr12:122607559-122608420	A549	lung:	n/a	chr12:122608207-122608220 chr12:122607831-122607844
25	CTCF	chr12:122607433-122608450	HCT-116	colon:	n/a	chr12:122607920-122607936 chr12:122607914-122607935 chr12:122607919-122607937
26	RAD21	chr12:122607600-122608219	MCF-7	breast:	n/a	chr12:122607917-122607936

No.	Distal block	Cell Line	Cell type
1	chr12:122607579..122610037-chr12:122611336..122613459,2	MCF-7	breast:
2	chr12:122515031..122519836-chr12:122606166..122610448,7	MCF-7	breast:
3	chr12:122601261..122606063-chr12:122607168..122609213,4	K562	blood:
4	chr12:122491907..122493455-chr12:122607305..122608643,21	MCF-7	breast:
5	chr12:122493626..122494203-chr12:122607434..122608220,2	K562	blood:
6	chr12:122491967..122493498-chr12:122607388..122608388,14	K562	blood:
7	chr12:122492257..122492931-chr12:122607541..122608235,2	MCF-7	breast:
8	chr12:122584007..122585799-chr12:122606891..122609136,2	K562	blood:
9	chr12:122492379..122495152-chr12:122604029..122610434,5	MCF-7	breast:

Variant related genes	Relation type
MLXIP	TF binding region
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1047796	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1047813	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744177	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10744335	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770189	0.81[EUR][1000 genomes]
rs10773037	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846525	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11057184	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11057654	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11057905	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11059094	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060477	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061156	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11061602	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11608788	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11609875	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835818	0.84[EUR][1000 genomes]
rs12366611	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12812519	0.81[EUR][1000 genomes]
rs1976859	0.83[EUR][1000 genomes]
rs2280573	0.83[EUR][1000 genomes]
rs2280574	0.83[EUR][1000 genomes]
rs28385906	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28401575	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28410367	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28414202	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28421373	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28430881	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28450064	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28453771	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28461580	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464252	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28478366	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478717	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28498002	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28498376	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28503672	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28506952	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28517281	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28529535	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28530689	0.91[EUR][1000 genomes]
rs28545660	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28548845	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28569273	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28580546	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28585613	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28591322	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28605425	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28607028	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613772	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28626850	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28629903	0.86[EUR][1000 genomes]
rs28631172	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28639626	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28642975	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28649184	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28652632	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28683032	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28691281	0.83[EUR][1000 genomes]
rs28699616	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28737311	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28739522	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28759327	0.83[EUR][1000 genomes]
rs34047484	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34123446	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34439774	0.86[EUR][1000 genomes]
rs34532891	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34739240	0.81[EUR][1000 genomes]
rs34741056	0.92[EUR][1000 genomes]
rs34974633	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35159488	0.81[EUR][1000 genomes]
rs35249105	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35676267	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35764187	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36079122	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3809117	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3892367	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758653	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4758654	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758685	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758686	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4758687	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4758688	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758690	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758691	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56072019	0.82[EUR][1000 genomes]
rs61952902	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61952904	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61952920	0.90[EUR][1000 genomes]
rs61952922	0.95[EUR][1000 genomes]
rs61952923	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6489238	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6489242	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6489244	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7137049	0.83[EUR][1000 genomes]
rs7312210	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73217796	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7484733	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485054	0.86[EUR][1000 genomes]
rs7485380	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485447	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7486198	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7487292	0.81[ASN][1000 genomes]
rs7487608	0.85[ASN][1000 genomes]
rs7488268	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7488393	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7488857	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7953704	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7955571	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955575	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7962500	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7964148	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7967127	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7975001	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
5	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
7	chr12:122603200-122610000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:122604400-122611200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:122604800-122608400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:122604800-122608600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122605200-122608600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:122605200-122608600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:122605200-122608600	Enhancers	Ovary	ovary
14	chr12:122605200-122608600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:122605400-122608600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:122605800-122608400	Enhancers	Psoas Muscle	Psoas
17	chr12:122605800-122608600	Enhancers	Colonic Mucosa	Colon
18	chr12:122606000-122608400	Enhancers	Primary hematopoietic stem cells	blood
19	chr12:122606000-122608400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:122606000-122608400	Enhancers	Fetal Thymus	thymus
21	chr12:122606000-122608600	Enhancers	Adipose Nuclei	Adipose
22	chr12:122606000-122608800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:122606200-122608600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:122606200-122608600	Genic enhancers	Fetal Intestine Small	intestine
25	chr12:122606200-122608600	Genic enhancers	Fetal Stomach	stomach
26	chr12:122606200-122608600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:122606400-122608600	Enhancers	Primary T cells from cord blood	blood
28	chr12:122606400-122611200	Enhancers	Fetal Muscle Leg	muscle
29	chr12:122607200-122610800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:122607400-122608400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:122607400-122608400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:122607400-122608400	Enhancers	Dnd41	blood
33	chr12:122607400-122608400	Enhancers	HUVEC	blood vessel
34	chr12:122607400-122608600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:122607400-122608600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:122607400-122608600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:122607400-122608600	Enhancers	Esophagus	oesophagus
38	chr12:122607400-122608600	Enhancers	Fetal Intestine Large	intestine
39	chr12:122607400-122608600	Enhancers	Pancreas	Pancrea
40	chr12:122607400-122608600	Enhancers	Right Atrium	heart
41	chr12:122607400-122611600	Enhancers	Liver	Liver
42	chr12:122607600-122608400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:122607600-122608400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:122607600-122608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:122607600-122608400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:122607600-122608400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:122607600-122608400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:122607600-122608400	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:122607600-122608400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:122607600-122608400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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