Variant report

Variant	rs73450693
Chromosome Location	chr6:74198537-74198538
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	POLR2A	chr6:74198425-74198703	K562	blood:	n/a	n/a
2	POLR2A	chr6:74198485-74198564	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:74198105-74198854	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74197243..74199833-chr6:74200536..74205034,4	K562	blood:

Variant related genes	Relation type
ENSG00000271986	TF binding region
ENSG00000223821	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11962073	1.00[EUR][1000 genomes]
rs11964811	1.00[EUR][1000 genomes]
rs4708053	1.00[EUR][1000 genomes]
rs520570	1.00[EUR][1000 genomes]
rs531672	1.00[EUR][1000 genomes]
rs562270	1.00[EUR][1000 genomes]
rs571508	1.00[EUR][1000 genomes]
rs577250	1.00[EUR][1000 genomes]
rs58857515	1.00[EUR][1000 genomes]
rs59903417	1.00[EUR][1000 genomes]
rs6905319	1.00[EUR][1000 genomes]
rs6909346	1.00[EUR][1000 genomes]
rs6930349	1.00[EUR][1000 genomes]
rs73452548	1.00[EUR][1000 genomes]
rs73754636	1.00[EUR][1000 genomes]
rs73754640	1.00[EUR][1000 genomes]
rs9442927	1.00[EUR][1000 genomes]
rs9446934	1.00[EUR][1000 genomes]
rs9446936	1.00[EUR][1000 genomes]
rs9446937	1.00[EUR][1000 genomes]
rs9446956	1.00[EUR][1000 genomes]
rs9446969	1.00[EUR][1000 genomes]
rs9446971	1.00[EUR][1000 genomes]
rs9446974	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
9	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
3	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr6:74175600-74198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:74175600-74199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:74175600-74199000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:74175800-74198800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:74175800-74198800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:74175800-74198800	Strong transcription	Placenta	Placenta
15	chr6:74175800-74199000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:74175800-74199200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:74175800-74201000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:74176000-74198800	Strong transcription	Brain Anterior Caudate	brain
19	chr6:74176000-74198800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr6:74176000-74198800	Strong transcription	Fetal Intestine Large	intestine
21	chr6:74176000-74199000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:74176000-74199000	Strong transcription	Adipose Nuclei	Adipose
23	chr6:74176000-74199200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:74177600-74199000	Strong transcription	Dnd41	blood
25	chr6:74180600-74199000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:74181400-74199000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:74181600-74199000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:74181600-74199000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:74181800-74214800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:74182200-74198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:74182400-74198800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:74182400-74206200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr6:74182600-74198800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:74182600-74198800	Strong transcription	Fetal Intestine Small	intestine
35	chr6:74182600-74199000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:74182800-74198800	Strong transcription	Primary T cells from cord blood	blood
37	chr6:74182800-74198800	Strong transcription	Fetal Stomach	stomach
38	chr6:74182800-74198800	Strong transcription	Lung	lung
39	chr6:74183000-74198800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr6:74183200-74198800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr6:74183800-74198800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr6:74184000-74212000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr6:74187400-74199000	Strong transcription	Brain Germinal Matrix	brain
44	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:74189200-74198600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:74189200-74198800	Strong transcription	Left Ventricle	heart
47	chr6:74189200-74198800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:74189200-74199000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:74189200-74199000	Strong transcription	Fetal Brain Female	brain
50	chr6:74189200-74202600	Strong transcription	Primary B cells from cord blood	blood

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