Variant report

Variant	rs72677864
Chromosome Location	chr1:77758499-77758500
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	STAT3	chr1:77758384-77758502	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr1:77758480-77758628	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr1:77758394-77758571	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
AK5	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1167202	1.00[ASN][1000 genomes]
rs1167212	1.00[ASN][1000 genomes]
rs12133976	1.00[ASN][1000 genomes]
rs4949788	1.00[ASN][1000 genomes]
rs4949791	1.00[ASN][1000 genomes]
rs4949801	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72677862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72679521	1.00[AFR][1000 genomes]
rs72679581	1.00[AFR][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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77749800-77768800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:77750600-77772400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:77750800-77768200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:77751000-77767600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:77751400-77764600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:77754400-77759600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:77754400-77785800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:77755000-77768800	Strong transcription	NHDF-Ad	bronchial
12	chr1:77755200-77781600	Weak transcription	Osteobl	bone
13	chr1:77755400-77760800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
15	chr1:77756400-77758600	Strong transcription	Brain Hippocampus Middle	brain
16	chr1:77756600-77759200	Strong transcription	Primary T cells from cord blood	blood
17	chr1:77756800-77781600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:77757400-77759200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:77757600-77758800	Strong transcription	NHLF	lung
20	chr1:77757600-77777400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:77757800-77759000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:77757800-77759200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:77758000-77763000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:77758000-77778400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:77758200-77758600	Strong transcription	Brain Anterior Caudate	brain
26	chr1:77758400-77767200	Strong transcription	HSMM	muscle

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