Variant report

Variant	rs72960044
Chromosome Location	chr6:74188205-74188206
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	POLR2A	chr6:74188071-74188415	K562	blood:	n/a	n/a
2	POLR2A	chr6:74188128-74188216	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:74188145-74188368	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
MTO1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11961187	1.00[AFR][1000 genomes]
rs11965436	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968395	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11969010	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806980	1.00[EUR][1000 genomes]
rs4032697	1.00[AFR][1000 genomes]
rs72951364	1.00[EUR][1000 genomes]
rs72953359	0.92[EUR][1000 genomes]
rs72960023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72960035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72960049	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960065	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72961942	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:74172200-74189600	Weak transcription	Stomach Mucosa	stomach
3	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
4	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
6	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:74174000-74193600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr6:74175600-74188400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:74175600-74198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:74175600-74199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:74175600-74199000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:74175800-74188400	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:74175800-74196800	Strong transcription	Liver	Liver
19	chr6:74175800-74197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:74175800-74198000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:74175800-74198800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:74175800-74198800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:74175800-74198800	Strong transcription	Placenta	Placenta
24	chr6:74175800-74199000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr6:74175800-74199200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:74175800-74201000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:74176000-74192200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:74176000-74192200	Strong transcription	Fetal Lung	lung
29	chr6:74176000-74198800	Strong transcription	Brain Anterior Caudate	brain
30	chr6:74176000-74198800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr6:74176000-74198800	Strong transcription	Fetal Intestine Large	intestine
32	chr6:74176000-74199000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:74176000-74199000	Strong transcription	Adipose Nuclei	Adipose
34	chr6:74176000-74199200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:74176600-74197400	Weak transcription	Fetal Brain Male	brain
36	chr6:74177600-74199000	Strong transcription	Dnd41	blood
37	chr6:74178200-74189400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:74178800-74189600	Weak transcription	HSMMtube	muscle
39	chr6:74179000-74188600	Weak transcription	HUVEC	blood vessel
40	chr6:74179000-74189400	Weak transcription	K562	blood
41	chr6:74179000-74189600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:74179600-74189200	Weak transcription	Hela-S3	cervix
43	chr6:74180600-74188400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:74180600-74199000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:74181400-74192400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:74181400-74199000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:74181600-74199000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:74181600-74199000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:74181800-74214800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:74182000-74192200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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