Variant report

Variant	rs73366878
Chromosome Location	chr6:11385206-11385207
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	TCF12	chr6:11384589-11385308	SK-N-SH	brain:	n/a	n/a
2	TEAD4	chr6:11384646-11385556	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:11383728..11385611-chr6:11391826..11394332,2	K562	blood:
2	chr6:11385040..11387245-chr6:11401910..11404147,2	K562	blood:
3	chr6:11229965..11235177-chr6:11385041..11393111,14	MCF-7	breast:
4	chr6:11384266..11387041-chr6:11387793..11390164,2	MCF-7	breast:

Variant related genes	Relation type
NEDD9	TF binding region
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs59642057	1.00[AMR][1000 genomes]
rs61474214	1.00[AMR][1000 genomes]
rs6907518	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6938536	1.00[AMR][1000 genomes]
rs72544725	1.00[AMR][1000 genomes]
rs73353907	1.00[AMR][1000 genomes]
rs73353910	1.00[AMR][1000 genomes]
rs73353912	1.00[AMR][1000 genomes]
rs73366826	1.00[AMR][1000 genomes]
rs73366831	1.00[AMR][1000 genomes]
rs73366833	1.00[AMR][1000 genomes]
rs73366860	1.00[AMR][1000 genomes]
rs73366871	1.00[AMR][1000 genomes]
rs73366879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73366886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73366897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7768963	1.00[AMR][1000 genomes]
rs7776103	1.00[AMR][1000 genomes]

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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS 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 target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr6:11377800-11386600	Weak transcription	HepG2	liver
2	chr6:11382600-11386800	Weak transcription	Colonic Mucosa	Colon
3	chr6:11382600-11389400	Weak transcription	Lung	lung
4	chr6:11382600-11392400	Weak transcription	Right Atrium	heart
5	chr6:11383000-11386800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:11383200-11388600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:11383200-11390200	Weak transcription	Spleen	Spleen
8	chr6:11383400-11386600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:11383400-11388000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:11383400-11392600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:11383600-11386600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:11383600-11386800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:11383600-11387000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:11383600-11393000	Weak transcription	Small Intestine	intestine
15	chr6:11383800-11386000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:11383800-11386600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:11383800-11386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:11383800-11386600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:11383800-11386800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:11383800-11392600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:11384000-11388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:11384200-11386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:11384200-11386800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr6:11384400-11385600	Enhancers	NHDF-Ad	bronchial
25	chr6:11384400-11385800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:11384400-11385800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:11384400-11385800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:11384400-11386000	Enhancers	HSMMtube	muscle
29	chr6:11384600-11385600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:11384600-11385600	Enhancers	HSMM	muscle
31	chr6:11384600-11386000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:11385000-11385600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:11385000-11386200	Enhancers	GM12878-XiMat	blood
34	chr6:11385200-11385800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:11385200-11385800	Enhancers	Aorta	Aorta
36	chr6:11385200-11389200	Enhancers	Primary B cells from cord blood	blood
37	chr6:11385200-11389800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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