Variant report

Variant	rs6751373
Chromosome Location	chr2:189838050-189838051
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	GATA3	chr2:189837699-189839505	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr2:189837736-189839665	SK-N-SH	brain:	n/a	chr2:189839506-189839513 chr2:189839506-189839513 chr2:189839506-189839513

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189652355..189655667-chr2:189836980..189839231,3	MCF-7	breast:

Variant related genes	Relation type
COL3A1	TF binding region
MIR1245A	TF binding region
ENSG00000174325	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1533442	1.00[AMR][1000 genomes]
rs1607027	1.00[AMR][1000 genomes]
rs1850276	1.00[AMR][1000 genomes]
rs2351417	1.00[AMR][1000 genomes]
rs2708201	1.00[AMR][1000 genomes]
rs3134653	0.87[AFR][1000 genomes]
rs6434303	1.00[AMR][1000 genomes]
rs6720453	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv584056	chr2:189796272-189841052	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv459992	chr2:189796272-189855943	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv584057	chr2:189796272-189855943	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875609	chr2:189796272-189862097	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv584058	chr2:189799499-189855943	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
8	esv1791841	chr2:189811074-189864582	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 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	chr2:189828400-189838400	Weak transcription	Fetal Kidney	kidney
2	chr2:189830800-189839000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:189834200-189838600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:189834200-189838800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:189834200-189842800	Weak transcription	A549	lung
6	chr2:189834400-189838200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:189835400-189838800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:189835400-189839200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:189835800-189838200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:189836200-189838400	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:189836200-189839000	Weak transcription	Esophagus	oesophagus
12	chr2:189836400-189838400	Weak transcription	HSMMtube	muscle
13	chr2:189836600-189838400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:189836600-189838400	Weak transcription	Ovary	ovary
15	chr2:189836600-189838400	Weak transcription	HSMM	muscle
16	chr2:189836800-189838400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:189836800-189838600	Weak transcription	Small Intestine	intestine
18	chr2:189836800-189838800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:189837400-189838200	Weak transcription	Fetal Stomach	stomach
20	chr2:189837400-189844000	Active TSS	NHDF-Ad	bronchial
21	chr2:189837800-189838200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:189837800-189838200	Enhancers	Fetal Lung	lung
23	chr2:189837800-189838400	Enhancers	Osteobl	bone
24	chr2:189837800-189838800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:189837800-189839200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:189837800-189842800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:189837800-189844800	Active TSS	Stomach Smooth Muscle	stomach
28	chr2:189838000-189838400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:189838000-189844600	Active TSS	Right Atrium	heart
30	chr2:189838000-189844800	Active TSS	Adipose Nuclei	Adipose
31	chr2:189838000-189844800	Active TSS	NHLF	lung

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