Variant report

Variant	rs7772697
Chromosome Location	chr6:149435111-149435112
allele	C/T
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	RUNX3	chr6:149434777-149435169	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149434484..149436638-chr6:149440096..149443619,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000219487	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3935945	0.86[YRI][hapmap]
rs7752657	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Diabetic retinopathy	21441570	GWAS catalog

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149429200-149437200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:149430200-149437200	Weak transcription	Brain Substantia Nigra	brain
3	chr6:149430600-149437200	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:149432800-149436400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:149433200-149443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:149433800-149436400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:149433800-149436600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:149433800-149444400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:149434000-149435600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:149434000-149437000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:149434400-149435400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:149434400-149435600	Enhancers	GM12878-XiMat	blood
13	chr6:149434400-149436400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:149434400-149437000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:149434600-149436400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:149434600-149436600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:149434600-149436600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:149434600-149437000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:149434800-149435200	Enhancers	Brain Anterior Caudate	brain
20	chr6:149434800-149436000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:149434800-149436600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:149435000-149435800	Enhancers	Fetal Muscle Leg	muscle
23	chr6:149435000-149436000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:149435000-149436600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:149435000-149439400	Weak transcription	Aorta	Aorta

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