Variant report

Variant	rs73871602
Chromosome Location	chr4:166125158-166125159
allele	A/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	MYC	chr4:166124688-166125173	MCF10A-Er-Src	breast:	n/a	n/a
2	EGR1	chr4:166124936-166125184	K562	blood:	n/a	n/a
3	MYC	chr4:166124767-166125172	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166114045..166117632-chr4:166124756..166128607,4	K562	blood:
2	chr4:166114759..166116700-chr4:166124853..166126490,2	MCF-7	breast:

Variant related genes	Relation type
KLHL2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55820858	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57666521	0.95[AFR][1000 genomes];1.00[EUR][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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166115400-166127400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:166119800-166127400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:166120600-166125200	Weak transcription	NHDF-Ad	bronchial
4	chr4:166120800-166125200	Weak transcription	NH-A	brain
5	chr4:166121000-166127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:166121200-166125200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:166121400-166125400	Weak transcription	Osteobl	bone
8	chr4:166122600-166126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:166124600-166126800	Enhancers	NHEK	skin
10	chr4:166124800-166125800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:166124800-166126400	Enhancers	HMEC	breast
12	chr4:166124800-166126600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:166124800-166126800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:166124800-166127800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:166125000-166125200	Enhancers	Brain Angular Gyrus	brain
16	chr4:166125000-166125200	Enhancers	Spleen	Spleen
17	chr4:166125000-166125400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:166125000-166125400	Flanking Active TSS	Liver	Liver
19	chr4:166125000-166125400	Enhancers	Gastric	stomach
20	chr4:166125000-166125400	Enhancers	Pancreas	Pancrea
21	chr4:166125000-166125800	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:166125000-166126200	Enhancers	HepG2	liver
23	chr4:166125000-166126200	Enhancers	NHLF	lung
24	chr4:166125000-166126400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:166125000-166126400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:166125000-166126400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:166125000-166126400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:166125000-166126400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:166125000-166126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:166125000-166126600	Enhancers	Hela-S3	cervix
31	chr4:166125000-166126800	Enhancers	Primary T helper cells PMA-I stimulated	--

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