Variant report

Variant	rs4252773
Chromosome Location	chr4:77995945-77995946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77869773..77871632-chr4:77995514..77998178,4	K562	blood:
2	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
3	chr4:77975545..77980821-chr4:77994993..77998408,5	MCF-7	breast:
4	chr4:77973346..77979214-chr4:77995835..77998143,7	K562	blood:
5	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:
6	chr4:77995405..77999334-chr4:78000731..78006327,9	MCF-7	breast:
7	chr4:77869773..77872075-chr4:77995627..77998726,3	K562	blood:
8	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
9	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
10	chr4:77870359..77873653-chr4:77995177..77998877,4	MCF-7	breast:
11	chr4:77995650..77999094-chr4:78076501..78080726,6	K562	blood:
12	chr4:77995679..77998060-chr4:78068555..78071849,3	K562	blood:
13	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:
14	chr4:77722957..77725210-chr4:77994122..77996396,2	K562	blood:
15	chr4:77977102..77979783-chr4:77995512..77998143,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214062	Chromatin interaction
ENSG00000138764	Chromatin interaction
ENSG00000118816	Chromatin interaction
ENSG00000224218	Chromatin interaction
ENSG00000201641	Chromatin interaction
ENSG00000138758	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10002443	1.00[GIH][hapmap]
rs10006033	1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10470896	1.00[GIH][hapmap]
rs10856952	1.00[GIH][hapmap]
rs11559161	1.00[GIH][hapmap]
rs12186	0.93[EUR][1000 genomes]
rs1472399	1.00[GIH][hapmap]
rs17002332	1.00[GIH][hapmap]
rs17002334	1.00[GIH][hapmap]
rs17002346	1.00[GIH][hapmap]
rs2279711	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2645668	1.00[GIH][hapmap]
rs28715145	0.93[EUR][1000 genomes]
rs4252768	0.81[EUR][1000 genomes]
rs4252813	0.93[EUR][1000 genomes]
rs4252858	0.93[EUR][1000 genomes]
rs4252887	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4252896	1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[EUR][1000 genomes]
rs4252897	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4252913	0.86[EUR][1000 genomes]
rs4252930	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4557282	1.00[GIH][hapmap]
rs6817626	1.00[GIH][hapmap]
rs6824360	1.00[GIH][hapmap]
rs7667891	1.00[GIH][hapmap]

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	nsv879499	chr4:77990904-78003416	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3330627	chr4:77995278-77997926	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3357193	chr4:77995453-77998301	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77992000-77996200	Weak transcription	Spleen	Spleen
2	chr4:77992000-77998200	Active TSS	GM12878-XiMat	blood
3	chr4:77993200-77996000	Flanking Active TSS	Dnd41	blood
4	chr4:77993400-77996000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr4:77993400-77996000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr4:77993600-77996000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr4:77993600-77996000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr4:77993600-77996000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:77993600-77996200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:77993600-77998200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:77993600-77998400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:77993800-77996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:77993800-77996000	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr4:77993800-77996000	Flanking Active TSS	Osteobl	bone
15	chr4:77993800-77998600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:77994000-77996000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:77994000-77996000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr4:77994000-77997800	Active TSS	Ovary	ovary
19	chr4:77994000-77998000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:77994000-77998400	Active TSS	Aorta	Aorta
21	chr4:77994000-77998600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr4:77994200-77996000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr4:77994200-77996000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:77994200-77996600	Active TSS	Right Atrium	heart
25	chr4:77994200-77998000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:77994200-77998000	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr4:77994200-77998000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:77994200-77998200	Active TSS	HSMMtube	muscle
29	chr4:77994200-77998200	Active TSS	NHDF-Ad	bronchial
30	chr4:77994400-77996000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:77994400-77996000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr4:77994400-77996000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:77994400-77996000	Flanking Active TSS	Fetal Lung	lung
34	chr4:77994400-77996000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr4:77994400-77998000	Active TSS	Left Ventricle	heart
36	chr4:77994400-77998000	Active TSS	Right Ventricle	heart
37	chr4:77994400-77998200	Active TSS	Fetal Muscle Trunk	muscle
38	chr4:77994400-77998800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:77994400-77998800	Active TSS	Rectal Smooth Muscle	rectum
40	chr4:77994600-77996000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr4:77994600-77996000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr4:77994600-77998200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:77994600-77998200	Active TSS	Primary T cells fromperipheralblood	blood
44	chr4:77994600-77998400	Active TSS	Brain Germinal Matrix	brain
45	chr4:77994600-77998600	Active TSS	Stomach Smooth Muscle	stomach
46	chr4:77994600-77998800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr4:77994800-77996000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr4:77994800-77997800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:77994800-77997800	Active TSS	NHEK	skin
50	chr4:77994800-77998000	Active TSS	Colonic Mucosa	Colon

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