Variant report

Variant	rs4916273
Chromosome Location	chr1:171223134-171223135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171219827..171222241-chr1:171222983..171225833,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231424	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12402732	0.86[AFR][1000 genomes]
rs4073692	0.83[JPT][hapmap]
rs4073693	0.83[JPT][hapmap];0.89[MEX][hapmap]
rs57305992	0.86[AFR][1000 genomes]
rs61815423	0.89[AFR][1000 genomes]
rs61815425	0.86[AFR][1000 genomes]
rs72714167	0.86[AFR][1000 genomes]
rs7533889	0.83[JPT][hapmap]
rs7551934	0.82[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:171221000-171223800	Weak transcription	HMEC	breast
2	chr1:171221000-171224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:171221000-171226000	Weak transcription	Fetal Kidney	kidney
4	chr1:171221000-171226600	Weak transcription	Esophagus	oesophagus
5	chr1:171221000-171227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:171221200-171223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:171221200-171223600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:171221200-171223600	Weak transcription	Osteobl	bone
9	chr1:171221200-171223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:171221200-171224400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:171221200-171224400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:171221200-171224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:171221200-171226000	Weak transcription	Liver	Liver
14	chr1:171221200-171226000	Weak transcription	Fetal Lung	lung
15	chr1:171221200-171226400	Weak transcription	Right Atrium	heart
16	chr1:171221200-171227200	Enhancers	Fetal Intestine Small	intestine
17	chr1:171221200-171228200	Enhancers	Fetal Intestine Large	intestine
18	chr1:171221400-171223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:171221400-171223800	Weak transcription	NH-A	brain
20	chr1:171221400-171226200	Weak transcription	Fetal Heart	heart
21	chr1:171221800-171223600	Weak transcription	NHEK	skin
22	chr1:171221800-171226400	Weak transcription	Pancreas	Pancrea
23	chr1:171221800-171226800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:171221800-171226800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:171222000-171223600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:171222000-171223800	Weak transcription	Gastric	stomach
27	chr1:171222000-171224400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:171222000-171226200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:171222000-171226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:171222000-171226600	Weak transcription	Placenta	Placenta
31	chr1:171222000-171227200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:171222000-171227400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:171222200-171224400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:171222800-171225000	Enhancers	Duodenum Mucosa	Duodenum

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