Variant report

Variant	rs74134230
Chromosome Location	chr1:185930127-185930128
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	TCF7L2	chr1:185930045-185930507	HEK293	kidney:	n/a	chr1:185930212-185930221

Variant related genes	Relation type
HMCN1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55780908	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56327694	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134210	1.00[AMR][1000 genomes]
rs74134211	1.00[AMR][1000 genomes]
rs74134213	1.00[AMR][1000 genomes]
rs74134214	1.00[AMR][1000 genomes]
rs74134216	1.00[AMR][1000 genomes]
rs74134221	1.00[AMR][1000 genomes]
rs74134222	1.00[AMR][1000 genomes]
rs74134224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134225	1.00[AMR][1000 genomes]
rs74134226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134229	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134232	1.00[AMR][1000 genomes]
rs74134233	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185895200-185932200	Weak transcription	Aorta	Aorta
2	chr1:185922800-185931200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:185924200-185940800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:185925200-185931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:185925800-185931800	Enhancers	NHDF-Ad	bronchial
6	chr1:185926800-185933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:185926800-185939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:185927600-185938400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:185928000-185933600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:185928000-185933600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:185929400-185930600	Enhancers	Fetal Brain Male	brain
12	chr1:185929400-185931200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:185929400-185933600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:185929600-185930200	Enhancers	Fetal Stomach	stomach
15	chr1:185929600-185930400	Enhancers	NH-A	brain
16	chr1:185929600-185930600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:185929600-185930600	Enhancers	Brain Germinal Matrix	brain
18	chr1:185929600-185930800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:185929600-185931400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:185929600-185931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:185929600-185931400	Enhancers	Fetal Kidney	kidney
22	chr1:185929600-185931400	Enhancers	Fetal Muscle Leg	muscle
23	chr1:185929600-185931600	Enhancers	NHLF	lung
24	chr1:185929600-185931800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:185929600-185931800	Enhancers	Fetal Lung	lung
26	chr1:185929800-185930600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:185929800-185931200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:185930000-185930400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:185930000-185931400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:185930000-185935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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