Variant report

Variant	rs6814029
Chromosome Location	chr4:99852016-99852017
allele	A/G
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	MXI1	chr4:99848834-99852022	IMR90	lung:	n/a	chr4:99850350-99850359 chr4:99850501-99850510
2	KAP1	chr4:99851668-99852467	HEK293	kidney:	n/a	n/a
3	JUN	chr4:99848933-99852036	K562	blood:	n/a	chr4:99849200-99849212 chr4:99850706-99850715
4	SETDB1	chr4:99850509-99852492	U2OS	brain:	n/a	chr4:99850662-99850686

No.	Distal block	Cell Line	Cell type
1	chr4:99849107..99853067-chr4:99958393..99961916,5	K562	blood:
2	chr4:99849574..99853806-chr4:100008192..100011466,4	MCF-7	breast:
3	chr4:99661713..99664313-chr4:99850312..99852279,2	K562	blood:
4	chr4:99849612..99852371-chr4:100007085..100010224,5	K562	blood:
5	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
6	chr4:99848192..99852255-chr4:100007586..100012546,7	K562	blood:
7	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
8	chr4:99850538..99853067-chr4:99958598..99961528,2	K562	blood:
9	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:
10	chr4:99848578..99852948-chr4:99876464..99882582,7	K562	blood:

Variant related genes	Relation type
EIF4E	TF binding region
ENSG00000238449	TF binding region
ENSG00000246090	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000214886	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000227118	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs34164768	0.82[AFR][1000 genomes]
rs6828340	0.90[AMR][1000 genomes]
rs6833074	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834230	1.00[AMR][1000 genomes]
rs72893526	1.00[AMR][1000 genomes]
rs72893533	1.00[AMR][1000 genomes]
rs72893538	1.00[AMR][1000 genomes]
rs72893541	1.00[AMR][1000 genomes]
rs72893544	1.00[AMR][1000 genomes]
rs72893547	1.00[AMR][1000 genomes]
rs72905036	1.00[AMR][1000 genomes]
rs72905048	1.00[AMR][1000 genomes]
rs72905053	1.00[AMR][1000 genomes]
rs72905075	1.00[AMR][1000 genomes]
rs7693840	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99851200-99852200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr4:99851400-99853000	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:99851400-99858000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:99851600-99852200	Enhancers	Colonic Mucosa	Colon
5	chr4:99851600-99852200	Enhancers	HUVEC	blood vessel
6	chr4:99851600-99852400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:99851800-99852200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:99851800-99852400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr4:99851800-99853600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:99851800-99853800	Weak transcription	HSMM	muscle
11	chr4:99851800-99853800	Weak transcription	HSMMtube	muscle
12	chr4:99852000-99852200	Enhancers	HMEC	breast
13	chr4:99852000-99852400	Enhancers	K562	blood
14	chr4:99852000-99853400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:99852000-99853600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:99852000-99853600	Weak transcription	Primary B cells from cord blood	blood
17	chr4:99852000-99853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:99852000-99853600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:99852000-99853600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:99852000-99853600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:99852000-99853600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:99852000-99853600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:99852000-99853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:99852000-99853600	Weak transcription	GM12878-XiMat	blood
25	chr4:99852000-99853600	Weak transcription	NHEK	skin
26	chr4:99852000-99853600	Weak transcription	Osteobl	bone
27	chr4:99852000-99853800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:99852000-99853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:99852000-99853800	Weak transcription	NHDF-Ad	bronchial
30	chr4:99852000-99854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:99852000-99854000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:99852000-99854200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:99852000-99855800	Weak transcription	HepG2	liver
34	chr4:99852000-99859000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:99852000-99859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:99852000-99859200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:99852000-99859400	Weak transcription	Stomach Mucosa	stomach

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