Variant report

Variant	rs74146370
Chromosome Location	chr1:224714791-224714792
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	CHD2	chr1:224714561-224714794	K562	blood:	n/a	n/a
2	RCOR1	chr1:224714589-224714791	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224713950..224716544-chr1:225116543..225118635,2	K562	blood:

Variant related genes	Relation type
CNIH3	TF binding region
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16849164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61509136	0.88[AFR][1000 genomes]
rs6689059	0.88[AFR][1000 genomes]
rs73133329	0.85[AFR][1000 genomes]
rs74146373	0.92[AFR][1000 genomes];0.89[AMR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224701800-224716600	Weak transcription	Ovary	ovary
5	chr1:224702000-224716600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:224702200-224716600	Weak transcription	Dnd41	blood
7	chr1:224710600-224716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:224711200-224720400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:224711800-224716600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
11	chr1:224712800-224716600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:224713000-224716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:224713200-224716400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:224713200-224716600	Weak transcription	HSMMtube	muscle
15	chr1:224713400-224716400	Weak transcription	HMEC	breast
16	chr1:224713400-224716600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:224713400-224721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:224713600-224715000	Enhancers	Fetal Brain Male	brain
19	chr1:224713600-224716400	Weak transcription	HSMM	muscle
20	chr1:224713600-224716600	Weak transcription	NHEK	skin
21	chr1:224713800-224716400	Weak transcription	NHLF	lung
22	chr1:224713800-224716400	Weak transcription	Osteobl	bone
23	chr1:224713800-224716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:224713800-224716600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:224713800-224716600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:224713800-224716600	Weak transcription	NH-A	brain
27	chr1:224713800-224716800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:224714000-224714800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:224714000-224715000	Enhancers	Fetal Muscle Leg	muscle
30	chr1:224714200-224716400	Weak transcription	NHDF-Ad	bronchial
31	chr1:224714400-224715000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:224714400-224715000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:224714400-224715000	Enhancers	K562	blood
34	chr1:224714600-224716600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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