Variant report

Variant	rs4075503
Chromosome Location	chr12:105353244-105353245
allele	A/C
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	NR2F2	chr12:105352903-105353648	MCF-7	breast:	n/a	n/a
2	POLR2A	chr12:105351807-105353413	HepG2	liver:	n/a	n/a
3	GATA1	chr12:105352714-105354240	K562	blood:	n/a	n/a
4	IRF1	chr12:105353208-105353600	K562	blood:	n/a	n/a
5	CUX1	chr12:105353196-105353757	K562	blood:	n/a	n/a
6	FOS	chr12:105353199-105353524	MCF10A-Er-Src	breast:	n/a	chr12:105353357-105353368
7	TBL1XR1	chr12:105353181-105353491	K562	blood:	n/a	n/a
8	GTF2F1	chr12:105352385-105353624	Hela-S3	cervix:	n/a	n/a
9	EP300	chr12:105353110-105353626	Hela-S3	cervix:	n/a	n/a
10	FOSL2	chr12:105353088-105353572	SK-N-SH	brain:	n/a	chr12:105353358-105353369
11	BHLHE40	chr12:105352919-105353529	K562	blood:	n/a	n/a
12	MXI1	chr12:105352901-105353451	HepG2	liver:	n/a	n/a
13	JUN	chr12:105353089-105353535	K562	blood:	n/a	n/a
14	FOS	chr12:105353187-105353559	MCF10A-Er-Src	breast:	n/a	chr12:105353357-105353368
15	MXI1	chr12:105351791-105353502	Hela-S3	cervix:	n/a	chr12:105352490-105352499 chr12:105352492-105352501
16	MAFK	chr12:105353147-105353486	K562	blood:	n/a	n/a
17	MYC	chr12:105351871-105353496	K562	blood:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
18	NR2F2	chr12:105352060-105353669	MCF-7	breast:	n/a	n/a
19	BATF	chr12:105353242-105353530	GM12878	blood:	n/a	chr12:105353355-105353366
20	MAX	chr12:105351719-105353524	MCF-7	breast:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
21	IRF1	chr12:105353186-105353561	K562	blood:	n/a	n/a
22	MYC	chr12:105353202-105353550	MCF10A-Er-Src	breast:	n/a	n/a
23	RCOR1	chr12:105352908-105353502	K562	blood:	n/a	n/a
24	JUN	chr12:105353143-105353598	K562	blood:	n/a	n/a
25	MAZ	chr12:105353000-105353475	K562	blood:	n/a	n/a
26	RXRA	chr12:105352984-105353659	SK-N-SH	brain:	n/a	n/a
27	JUND	chr12:105353001-105353731	SK-N-SH	brain:	n/a	chr12:105353357-105353368
28	MAX	chr12:105352148-105353251	ECC-1	luminal epithelium:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
29	NR2F2	chr12:105352909-105353602	K562	blood:	n/a	n/a
30	GATA3	chr12:105352252-105353628	MCF-7	breast:	n/a	n/a
31	MAZ	chr12:105351387-105354117	IMR90	lung:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
32	JUND	chr12:105352965-105353858	K562	blood:	n/a	chr12:105353357-105353368
33	MAFF	chr12:105353206-105353504	K562	blood:	n/a	n/a
34	FOSL2	chr12:105353235-105353575	HepG2	liver:	n/a	chr12:105353358-105353369
35	MYC	chr12:105352303-105353509	MCF10A-Er-Src	breast:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
36	FOSL1	chr12:105353127-105353550	K562	blood:	n/a	n/a
37	SP1	chr12:105352073-105353533	A549	lung:	n/a	n/a
38	ARID3A	chr12:105353106-105353538	K562	blood:	n/a	n/a
39	JUND	chr12:105352947-105353545	HepG2	liver:	n/a	chr12:105353357-105353368
40	JUN	chr12:105353206-105353514	HUVEC	blood vessel:	n/a	n/a
41	FOS	chr12:105353156-105353618	MCF10A-Er-Src	breast:	n/a	chr12:105353357-105353368
42	JUN	chr12:105353087-105353730	Hela-S3	cervix:	n/a	n/a
43	CCNT2	chr12:105353183-105353482	K562	blood:	n/a	n/a
44	MYC	chr12:105351809-105353749	A549	lung:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105351860-105351871 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
45	NFIC	chr12:105352966-105353806	SK-N-SH	brain:	n/a	n/a
46	MAX	chr12:105352248-105353667	Hela-S3	cervix:	n/a	chr12:105352490-105352501 chr12:105352410-105352419 chr12:105352491-105352500 chr12:105352486-105352505 chr12:105352489-105352502 chr12:105352491-105352501 chr12:105352409-105352418 chr12:105352491-105352501 chr12:105352490-105352499 chr12:105352490-105352501
47	GATA3	chr12:105351716-105353646	A549	lung:	n/a	n/a
48	MYC	chr12:105353243-105353364	Hela-S3	cervix:	n/a	n/a
49	KAP1	chr12:105352278-105353502	U2OS	brain:	n/a	n/a
50	GATA3	chr12:105352251-105353742	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:105351138..105353772-chr12:105378582..105380234,3	MCF-7	breast:
2	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
3	chr12:105352802..105355166-chr12:105362542..105365310,2	MCF-7	breast:
4	chr12:105318476..105323326-chr12:105350867..105355215,4	MCF-7	breast:
5	chr12:105343851..105348812-chr12:105350003..105354386,8	MCF-7	breast:
6	chr12:104528832..104532197-chr12:105351511..105353407,3	MCF-7	breast:
7	chr12:104702212..104703801-chr12:105351869..105353641,2	MCF-7	breast:

Variant related genes	Relation type
SLC41A2	TF binding region
ENSG00000136052	Chromatin interaction
ENSG00000265054	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10861302	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs10861303	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs10861304	0.81[EUR][1000 genomes]
rs10861310	0.92[CEU][hapmap]
rs10861313	0.92[CEU][hapmap]
rs11112286	0.81[EUR][1000 genomes]
rs11112287	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7304326	0.92[CEU][hapmap]
rs7308025	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7308568	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105350400-105353400	Active TSS	Aorta	Aorta
2	chr12:105350600-105353400	Active TSS	Ovary	ovary
3	chr12:105352200-105353400	Flanking Active TSS	HMEC	breast
4	chr12:105352200-105353800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:105352400-105353400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr12:105352400-105353400	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:105352400-105353400	Flanking Active TSS	HSMM	muscle
8	chr12:105352400-105353400	Flanking Active TSS	K562	blood
9	chr12:105352400-105353400	Flanking Active TSS	NHEK	skin
10	chr12:105352400-105353600	Flanking Active TSS	Liver	Liver
11	chr12:105352600-105353400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:105352600-105353400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:105352600-105353600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:105352600-105353600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:105352600-105353600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr12:105352600-105353600	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr12:105352600-105353600	Flanking Active TSS	A549	lung
18	chr12:105352600-105353800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:105352600-105353800	Flanking Active TSS	NHDF-Ad	bronchial
20	chr12:105352600-105353800	Flanking Active TSS	NHLF	lung
21	chr12:105352600-105354000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:105352600-105354000	Enhancers	Esophagus	oesophagus
23	chr12:105352600-105354000	Flanking Active TSS	Hela-S3	cervix
24	chr12:105352600-105354000	Flanking Active TSS	Osteobl	bone
25	chr12:105352600-105354200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:105352600-105354200	Bivalent Enhancer	Fetal Thymus	thymus
27	chr12:105352800-105353400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:105352800-105353400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:105352800-105353400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:105352800-105353400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:105352800-105353400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:105352800-105353600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:105352800-105353600	Enhancers	Primary B cells from cord blood	blood
34	chr12:105352800-105353600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:105352800-105353600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:105352800-105353600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:105352800-105353600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:105352800-105353600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:105352800-105353600	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:105352800-105353600	Enhancers	Brain Hippocampus Middle	brain
41	chr12:105352800-105353600	Enhancers	Small Intestine	intestine
42	chr12:105352800-105353800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:105352800-105353800	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr12:105352800-105353800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr12:105352800-105354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:105352800-105354000	Enhancers	Fetal Muscle Leg	muscle
47	chr12:105352800-105354000	Enhancers	Placenta	Placenta
48	chr12:105352800-105354000	Enhancers	HUVEC	blood vessel
49	chr12:105352800-105354200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:105352800-105354200	Enhancers	Cortex derived primary cultured neurospheres	brain

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