Variant report

Variant	rs55820858
Chromosome Location	chr4:166125657-166125658
allele	G/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	STAT3	chr4:166125434-166126159	MCF10A-Er-Src	breast:	n/a	chr4:166125807-166125814
2	JUND	chr4:166125454-166126079	SK-N-SH	brain:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781
3	JUND	chr4:166125612-166125950	K562	blood:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781
4	FOS	chr4:166125620-166125957	MCF10A-Er-Src	breast:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781
5	FOS	chr4:166125366-166125971	MCF10A-Er-Src	breast:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781
6	FOS	chr4:166125606-166125950	MCF10A-Er-Src	breast:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781
7	FOS	chr4:166125563-166125965	MCF10A-Er-Src	breast:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781
8	NFIC	chr4:166125510-166126034	SK-N-SH	brain:	n/a	n/a
9	STAT3	chr4:166125616-166125925	MCF10A-Er-Src	breast:	n/a	chr4:166125807-166125814
10	FOS	chr4:166125539-166125980	HUVEC	blood vessel:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780 chr4:166125770-166125781
11	SMC3	chr4:166125537-166125678	GM12878	blood:	n/a	n/a
12	STAT3	chr4:166125585-166125919	MCF10A-Er-Src	breast:	n/a	chr4:166125807-166125814
13	POLR2A	chr4:166125599-166126016	SK-N-SH	brain:	n/a	n/a
14	FOSL2	chr4:166125477-166125978	SK-N-SH	brain:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780
15	FOSL1	chr4:166125442-166126100	HCT-116	colon:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780
16	SPI1	chr4:166125631-166125952	HL-60	blood:	n/a	n/a
17	FOSL2	chr4:166125596-166125867	HepG2	liver:	n/a	chr4:166125771-166125781 chr4:166125770-166125782 chr4:166125772-166125780

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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10011081	1.00[ASN][1000 genomes]
rs10212912	1.00[ASN][1000 genomes]
rs11936863	1.00[ASN][1000 genomes]
rs11940947	1.00[ASN][1000 genomes]
rs17046040	1.00[ASN][1000 genomes]
rs17046047	1.00[ASN][1000 genomes]
rs28412902	1.00[ASN][1000 genomes]
rs28477276	1.00[ASN][1000 genomes]
rs28517300	1.00[ASN][1000 genomes]
rs28569144	1.00[ASN][1000 genomes]
rs28613383	1.00[ASN][1000 genomes]
rs35185510	1.00[ASN][1000 genomes]
rs57666521	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60356884	1.00[ASN][1000 genomes]
rs6815850	1.00[ASN][1000 genomes]
rs6816615	1.00[ASN][1000 genomes]
rs6816939	1.00[ASN][1000 genomes]
rs6842480	1.00[ASN][1000 genomes]
rs6850576	1.00[ASN][1000 genomes]
rs6850775	1.00[ASN][1000 genomes]
rs73871602	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7665592	1.00[ASN][1000 genomes]
rs7666107	1.00[ASN][1000 genomes]
rs7666108	1.00[ASN][1000 genomes]
rs7675031	1.00[ASN][1000 genomes]
rs7679723	1.00[ASN][1000 genomes]
rs7680096	1.00[ASN][1000 genomes]
rs9992764	1.00[ASN][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:52 , 50 per page) page: 1 2

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	chr4:166121000-166127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:166122600-166126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:166124600-166126800	Enhancers	NHEK	skin
6	chr4:166124800-166125800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:166124800-166126400	Enhancers	HMEC	breast
8	chr4:166124800-166126600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:166124800-166126800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:166124800-166127800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:166125000-166125800	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:166125000-166126200	Enhancers	HepG2	liver
13	chr4:166125000-166126200	Enhancers	NHLF	lung
14	chr4:166125000-166126400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:166125000-166126400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:166125000-166126400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:166125000-166126400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:166125000-166126400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr4:166125000-166126600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:166125000-166126600	Enhancers	Hela-S3	cervix
21	chr4:166125000-166126800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:166125200-166125800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:166125200-166126000	Enhancers	A549	lung
24	chr4:166125200-166126000	Enhancers	NHDF-Ad	bronchial
25	chr4:166125200-166126200	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:166125200-166126200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:166125200-166126200	Enhancers	NH-A	brain
28	chr4:166125200-166126400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:166125200-166127600	Weak transcription	Brain Angular Gyrus	brain
30	chr4:166125200-166127600	Weak transcription	Spleen	Spleen
31	chr4:166125400-166125800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr4:166125400-166125800	Enhancers	GM12878-XiMat	blood
33	chr4:166125400-166126000	Enhancers	Stomach Mucosa	stomach
34	chr4:166125400-166126200	Enhancers	Brain Anterior Caudate	brain
35	chr4:166125400-166126200	Enhancers	HUVEC	blood vessel
36	chr4:166125400-166126200	Enhancers	Osteobl	bone
37	chr4:166125400-166126400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:166125400-166126400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:166125400-166126600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:166125400-166127600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:166125400-166127600	Enhancers	Liver	Liver
42	chr4:166125400-166127600	Weak transcription	Pancreas	Pancrea
43	chr4:166125400-166127800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:166125400-166127800	Weak transcription	Gastric	stomach
45	chr4:166125600-166125800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:166125600-166125800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:166125600-166125800	Enhancers	Aorta	Aorta
48	chr4:166125600-166125800	Enhancers	Fetal Thymus	thymus
49	chr4:166125600-166126200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:166125600-166126200	Enhancers	Muscle Satellite Cultured Cells	--

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