Variant report

Variant	rs73766809
Chromosome Location	chr6:114289442-114289443
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	chr6:114288995-114293464	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114287867..114290622-chr6:114290692..114293112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228624	TF binding region
ENSG00000196591	Chromatin interaction
ENSG00000228624	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11391	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17791808	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778215	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58052068	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73766806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73766810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv520419	chr6:114285253-114306614	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114253000-114289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:114253400-114290600	Weak transcription	Aorta	Aorta
3	chr6:114258600-114291000	Weak transcription	Lung	lung
4	chr6:114258800-114289800	Weak transcription	Spleen	Spleen
5	chr6:114264800-114289800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:114266000-114289600	Weak transcription	Esophagus	oesophagus
7	chr6:114266400-114289800	Weak transcription	Pancreas	Pancrea
8	chr6:114267400-114289800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:114270400-114289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:114276000-114289800	Weak transcription	NHLF	lung
11	chr6:114277000-114289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:114277400-114289600	Weak transcription	Thymus	Thymus
13	chr6:114277400-114290200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:114277600-114289800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:114277800-114289800	Weak transcription	HSMMtube	muscle
16	chr6:114278600-114289800	Weak transcription	Placenta	Placenta
17	chr6:114278800-114289800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:114279000-114289800	Weak transcription	Brain Anterior Caudate	brain
19	chr6:114279600-114290000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:114279800-114289600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:114279800-114289800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:114280600-114289800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:114280600-114291000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:114282800-114289600	Weak transcription	Brain Substantia Nigra	brain
25	chr6:114283400-114289800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:114286200-114289800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:114286200-114290800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:114287200-114289600	Enhancers	Fetal Brain Male	brain
29	chr6:114287200-114290200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:114287600-114289800	Weak transcription	Right Atrium	heart
31	chr6:114287800-114290400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:114288000-114290400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:114288000-114290800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:114288000-114293400	Active TSS	GM12878-XiMat	blood
35	chr6:114288200-114289800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:114288200-114289800	Enhancers	Fetal Kidney	kidney
37	chr6:114288400-114289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:114288400-114290000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:114288600-114289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:114288600-114289800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:114288600-114289800	Enhancers	HepG2	liver
42	chr6:114288600-114290000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:114288600-114290400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr6:114288600-114290600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr6:114288600-114291000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:114288600-114291000	Enhancers	Colon Smooth Muscle	Colon
47	chr6:114288800-114289800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:114288800-114289800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:114288800-114289800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:114288800-114290000	Enhancers	Skeletal Muscle Female	skeletal muscle

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