Variant report

Variant	rs73412044
Chromosome Location	chr12:119617891-119617892
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	GTF2F1	chr12:119617421-119618393	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr12:119617472-119618348	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr12:119616192-119619283	IMR90	lung:	n/a	n/a
4	FOSL1	chr12:119617278-119617945	HCT-116	colon:	n/a	n/a
5	POLR2A	chr12:119616221-119620115	IMR90	lung:	n/a	n/a
6	TBP	chr12:119617420-119617907	Hela-S3	cervix:	n/a	n/a
7	STAT1	chr12:119617275-119619198	Hela-S3	cervix:	n/a	n/a
8	PRDM1	chr12:119617366-119618042	Hela-S3	cervix:	n/a	chr12:119617942-119617955 chr12:119617548-119617563 chr12:119617553-119617562
9	FOSL2	chr12:119617362-119617909	MCF-7	breast:	n/a	n/a
10	EP300	chr12:119617454-119618395	Hela-S3	cervix:	n/a	chr12:119618191-119618205
11	MAZ	chr12:119615893-119617933	IMR90	lung:	n/a	n/a
12	MAFK	chr12:119617117-119618870	IMR90	lung:	n/a	chr12:119617683-119617693
13	RFX5	chr12:119617439-119618018	Hela-S3	cervix:	n/a	n/a
14	JUND	chr12:119617264-119617993	HCT-116	colon:	n/a	n/a
15	GATA3	chr12:119617299-119617966	MCF-7	breast:	n/a	n/a
16	MAFK	chr12:119617397-119619074	Hela-S3	cervix:	n/a	chr12:119617683-119617693
17	SMARCC1	chr12:119616249-119619015	Hela-S3	cervix:	n/a	n/a
18	JUND	chr12:119617279-119618007	HCT-116	colon:	n/a	n/a
19	FOSL1	chr12:119617265-119618005	HCT-116	colon:	n/a	n/a
20	SMC3	chr12:119617392-119618941	Hela-S3	cervix:	n/a	n/a
21	MAX	chr12:119617389-119617957	Hela-S3	cervix:	n/a	n/a
22	ZNF143	chr12:119617541-119618103	Hela-S3	cervix:	n/a	n/a
23	NR2F2	chr12:119617234-119617913	MCF-7	breast:	n/a	n/a
24	SIN3AK20	chr12:119617184-119618023	MCF-7	breast:	n/a	n/a
25	CHD2	chr12:119616353-119617964	Hela-S3	cervix:	n/a	chr12:119616586-119616596
26	KAP1	chr12:119616239-119619041	HEK293	kidney:	n/a	n/a
27	RCOR1	chr12:119617330-119618937	Hela-S3	cervix:	n/a	n/a
28	JUN	chr12:119617408-119617950	Hela-S3	cervix:	n/a	chr12:119617596-119617609
29	USF2	chr12:119617434-119619190	Hela-S3	cervix:	n/a	chr12:119618727-119618738
30	JUND	chr12:119617394-119617936	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr12:119617399-119618146	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:119616400-119617915	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr12:119617258-119617943	T-47D	breast:	n/a	n/a
34	JUND	chr12:119617252-119617954	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:
2	chr12:119551723..119553234-chr12:119616700..119619134,2	MCF-7	breast:
3	chr12:119553688..119557524-chr12:119615179..119619342,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256884	TF binding region
ENSG00000139767	Chromatin interaction
ENSG00000257095	Chromatin interaction
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73217222	1.00[ASN][1000 genomes]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119616000-119618800	Flanking Active TSS	Fetal Muscle Leg	muscle
2	chr12:119616200-119618000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:119616200-119618800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:119616200-119619200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:119616200-119621000	Active TSS	Rectal Smooth Muscle	rectum
6	chr12:119616400-119618000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:119616400-119620800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:119616400-119622200	Active TSS	Right Atrium	heart
9	chr12:119616400-119623000	Active TSS	Colon Smooth Muscle	Colon
10	chr12:119616600-119618000	Active TSS	HSMMtube	muscle
11	chr12:119616600-119618200	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr12:119616600-119618200	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:119616600-119618400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr12:119616600-119619000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:119616600-119619000	Active TSS	Ovary	ovary
16	chr12:119616600-119619200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:119616600-119619200	Active TSS	Colonic Mucosa	Colon
18	chr12:119616600-119619800	Active TSS	Lung	lung
19	chr12:119616600-119619800	Flanking Active TSS	NH-A	brain
20	chr12:119616600-119620000	Active TSS	Brain Angular Gyrus	brain
21	chr12:119616600-119620200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr12:119616600-119620200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr12:119616600-119620600	Active TSS	Left Ventricle	heart
24	chr12:119616600-119621000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:119616600-119621000	Active TSS	Psoas Muscle	Psoas
26	chr12:119616600-119622400	Active TSS	Aorta	Aorta
27	chr12:119616600-119622600	Active TSS	Right Ventricle	heart
28	chr12:119616800-119618400	Active TSS	Spleen	Spleen
29	chr12:119616800-119618600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr12:119616800-119618600	Flanking Active TSS	Fetal Lung	lung
31	chr12:119616800-119618600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr12:119616800-119618600	Flanking Active TSS	Osteobl	bone
33	chr12:119616800-119618800	Active TSS	Thymus	Thymus
34	chr12:119616800-119619000	Flanking Active TSS	HUVEC	blood vessel
35	chr12:119616800-119619200	Flanking Active TSS	Hela-S3	cervix
36	chr12:119616800-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:119616800-119620200	Active TSS	Brain Substantia Nigra	brain
38	chr12:119617000-119618200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:119617000-119618600	Flanking Active TSS	A549	lung
40	chr12:119617000-119619000	Active TSS	Fetal Thymus	thymus
41	chr12:119617000-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:119617000-119620600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
43	chr12:119617000-119622600	Active TSS	Brain Anterior Caudate	brain
44	chr12:119617200-119618000	Active TSS	Liver	Liver
45	chr12:119617200-119619000	Enhancers	NHEK	skin
46	chr12:119617200-119619800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:119617200-119620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:119617200-119620200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:119617400-119618000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:119617400-119618000	Active TSS	Placenta Amnion	Placenta Amnion

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