Variant report

Variant	rs1248419
Chromosome Location	chr10:29280979-29280980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:28965572..28966697-chr10:29280400..29281296,8	K562	blood:
2	chr10:28952466..28953354-chr10:29280417..29281268,8	K562	blood:
3	chr10:29166106..29168504-chr10:29280590..29282791,2	K562	blood:
4	chr10:28965712..28966798-chr10:29280540..29281290,4	MCF-7	breast:
5	chr10:29086957..29087612-chr10:29280439..29281305,2	MCF-7	breast:
6	chr10:29279625..29282236-chr10:29283754..29288089,3	MCF-7	breast:
7	chr10:28917184..28917695-chr10:29280434..29281283,2	K562	blood:

Variant related genes	Relation type
ENSG00000095739	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1041700	1.00[AMR][1000 genomes]
rs1052828	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2783583	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1046678	chr10:29242479-29378871	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv540524	chr10:29242479-29378871	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:29273800-29290800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:29274600-29283200	Weak transcription	Aorta	Aorta
3	chr10:29279200-29281600	Enhancers	Placenta	Placenta
4	chr10:29279200-29281800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:29279400-29281600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:29279800-29281200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr10:29279800-29281400	Enhancers	NHEK	skin
8	chr10:29279800-29281600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:29279800-29281800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:29280000-29281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:29280000-29281200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:29280000-29281200	Enhancers	NH-A	brain
13	chr10:29280000-29281400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:29280000-29281400	Enhancers	Fetal Heart	heart
15	chr10:29280000-29281400	Enhancers	Hela-S3	cervix
16	chr10:29280000-29281400	Enhancers	HepG2	liver
17	chr10:29280000-29281400	Enhancers	HMEC	breast
18	chr10:29280000-29281400	Enhancers	HSMM	muscle
19	chr10:29280000-29281400	Enhancers	HSMMtube	muscle
20	chr10:29280000-29281600	Enhancers	Osteobl	bone
21	chr10:29280200-29281400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:29280200-29281600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:29280400-29281400	Flanking Active TSS	A549	lung
24	chr10:29280600-29281000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:29280600-29281000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:29280600-29281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:29280600-29281200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:29280600-29281400	Enhancers	K562	blood
29	chr10:29280800-29281000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:29280800-29281000	Enhancers	HUVEC	blood vessel
31	chr10:29280800-29281400	Enhancers	Lung	lung
32	chr10:29280800-29281400	Enhancers	NHLF	lung

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