Variant report

Variant	rs12083984
Chromosome Location	chr1:119875408-119875409
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	EGR1	chr1:119875275-119875438	K562	blood:	n/a	chr1:119875365-119875387

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119869695..119871890-chr1:119874910..119876484,2	MCF-7	breast:
2	chr1:119874569..119876262-chr1:119880980..119883218,2	MCF-7	breast:

Variant related genes	Relation type
RNU1-75P	TF binding region
ENSG00000227712	Chromatin interaction
ENSG00000232650	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12062744	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv547615	chr1:119828542-119875730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv2761649	chr1:119840645-119925936	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119870600-119879600	Weak transcription	Fetal Lung	lung
2	chr1:119870600-119879800	Weak transcription	Right Atrium	heart
3	chr1:119870800-119883400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:119871800-119878000	Weak transcription	HepG2	liver
5	chr1:119872800-119876400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:119873400-119876000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:119873800-119876200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:119873800-119879200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:119874000-119875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:119874000-119876000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:119874200-119876400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:119874400-119875600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:119874400-119876000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:119874600-119875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:119874600-119875600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:119874600-119876200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:119874800-119875600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:119874800-119875600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:119874800-119875600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:119874800-119876200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:119875000-119875800	Enhancers	Fetal Kidney	kidney
22	chr1:119875000-119878600	Weak transcription	Liver	Liver
23	chr1:119875000-119886600	Weak transcription	GM12878-XiMat	blood
24	chr1:119875200-119876000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:119875200-119876000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:119875200-119883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:119875400-119875600	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:119875400-119875800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:119875400-119876200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:119875400-119879400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:119875400-119880000	Weak transcription	Placenta	Placenta

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