Variant report

Variant	rs11175467
Chromosome Location	chr12:65006184-65006185
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	chr12:65002580-65006225	GM18505	blood:	n/a	n/a
2	POLR2A	chr12:65002217-65006352	K562	blood:	n/a	n/a
3	SIN3A	chr12:65005693-65006306	GM12878	blood:	n/a	n/a
4	MYC	chr12:65003855-65006189	K562	blood:	n/a	chr12:65003947-65003957 chr12:65005352-65005362 chr12:65004589-65004599
5	POU2F2	chr12:65005631-65006217	GM12878	blood:	n/a	chr12:65005904-65005916 chr12:65005954-65005967
6	MXI1	chr12:65002568-65006219	IMR90	lung:	n/a	chr12:65004599-65004608
7	RUNX3	chr12:65004592-65006197	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:65003499-65006200	GM19193	blood:	n/a	n/a
9	WRNIP1	chr12:65004888-65006200	GM12878	blood:	n/a	n/a
10	MXI1	chr12:65003561-65006209	GM12878	blood:	n/a	chr12:65004599-65004608
11	POLR2A	chr12:65002666-65006196	Raji	blood:	n/a	n/a
12	CHD1	chr12:65004413-65006197	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:65002591-65006222	GM12878	blood:	n/a	n/a
14	MTA3	chr12:65004489-65006246	GM12878	blood:	n/a	n/a
15	MAZ	chr12:65002564-65006201	IMR90	lung:	n/a	chr12:65002881-65002890 chr12:65002880-65002889 chr12:65003947-65003957 chr12:65005352-65005362 chr12:65004589-65004599
16	POLR2A	chr12:65002537-65006274	GM12891	blood:	n/a	n/a
17	UBTF	chr12:65003885-65006210	K562	blood:	n/a	n/a
18	MXI1	chr12:65002434-65006373	SK-N-SH	brain:	n/a	chr12:65004599-65004608
19	RELA	chr12:65002651-65006235	GM12891	blood:	n/a	n/a
20	ZNF384	chr12:65005962-65006349	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:65001714..65006897-chr12:65088342..65093997,11	MCF-7	breast:
2	chr12:64913800..64915930-chr12:65005783..65007721,2	K562	blood:
3	chr12:65002182..65006670-chr12:65087134..65093452,10	MCF-7	breast:
4	chr12:64796580..64799507-chr12:65002415..65006757,4	K562	blood:
5	chr12:65004550..65006753-chr12:65173633..65175877,2	MCF-7	breast:
6	chr12:65004483..65006802-chr12:65074574..65078170,3	MCF-7	breast:
7	chr12:65001130..65003993-chr12:65004405..65007719,4	K562	blood:
8	chr12:65001959..65007139-chr12:65021874..65025265,5	K562	blood:
9	chr12:65004967..65007120-chr12:65061292..65063041,2	K562	blood:
10	chr12:65001526..65007900-chr12:65015799..65021807,8	K562	blood:
11	chr12:65002651..65005528-chr12:65005572..65007081,2	MCF-7	breast:
12	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256670	TF binding region
ENSG00000111490	Chromatin interaction
ENSG00000268028	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000207546	Chromatin interaction
ENSG00000184575	Chromatin interaction
ENSG00000256670	Chromatin interaction
ENSG00000225195	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11175469	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299132	1.00[ASN][1000 genomes]
rs12315116	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12828124	1.00[ASN][1000 genomes]
rs34100626	1.00[ASN][1000 genomes]
rs56379182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58306163	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58562693	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59517579	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730726	1.00[ASN][1000 genomes]
rs73319644	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
5	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65001800-65006200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:65001800-65006600	Active TSS	A549	lung
3	chr12:65002400-65006200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:65002400-65006400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:65002600-65006200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:65002600-65006200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:65002600-65006200	Active TSS	Fetal Kidney	kidney
8	chr12:65002600-65006200	Active TSS	Fetal Muscle Trunk	muscle
9	chr12:65002600-65006200	Active TSS	HSMM	muscle
10	chr12:65002600-65006400	Active TSS	Right Ventricle	heart
11	chr12:65002600-65007000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:65002600-65007800	Active TSS	GM12878-XiMat	blood
13	chr12:65002800-65006200	Active TSS	Colonic Mucosa	Colon
14	chr12:65002800-65006200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr12:65002800-65006400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:65002800-65006400	Active TSS	Left Ventricle	heart
17	chr12:65002800-65006600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:65002800-65006600	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr12:65002800-65006600	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr12:65002800-65006600	Active TSS	Colon Smooth Muscle	Colon
21	chr12:65002800-65007400	Active TSS	Aorta	Aorta
22	chr12:65003000-65006200	Active TSS	Small Intestine	intestine
23	chr12:65003000-65006400	Active TSS	Ovary	ovary
24	chr12:65003000-65006400	Active TSS	Right Atrium	heart
25	chr12:65003000-65006800	Active TSS	Fetal Stomach	stomach
26	chr12:65003000-65007200	Active TSS	Primary T cells fromperipheralblood	blood
27	chr12:65003000-65007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:65003200-65006200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:65003200-65006400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:65003200-65006600	Active TSS	Rectal Smooth Muscle	rectum
31	chr12:65003200-65006800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:65003200-65007600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:65003400-65006200	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:65003400-65006400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr12:65003400-65006600	Active TSS	Lung	lung
36	chr12:65003400-65006800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:65003400-65007600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:65003600-65006200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:65003600-65006400	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:65003600-65006400	Active TSS	Duodenum Mucosa	Duodenum
41	chr12:65003600-65006800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:65003800-65006600	Active TSS	Primary T cells from cord blood	blood
43	chr12:65003800-65006600	Active TSS	HUVEC	blood vessel
44	chr12:65004200-65006400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:65004400-65006200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:65004600-65006200	Flanking Active TSS	Dnd41	blood
47	chr12:65004800-65006200	Flanking Active TSS	Thymus	Thymus
48	chr12:65004800-65006800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:65004800-65007000	Active TSS	Stomach Smooth Muscle	stomach
50	chr12:65004800-65007200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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