Variant report

Variant	rs12204785
Chromosome Location	chr6:74190627-74190628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr6:74190379-74190962	SH-SY5Y	brain:	n/a	n/a
2	ZNF384	chr6:74190452-74190815	K562	blood:	n/a	n/a
3	GATA3	chr6:74190351-74190839	MCF-7	breast:	n/a	n/a
4	GATA3	chr6:74190376-74190899	MCF-7	breast:	n/a	n/a
5	GATA3	chr6:74190429-74190807	SH-SY5Y	brain:	n/a	n/a
6	TCF7L2	chr6:74190474-74190709	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74184228..74187229-chr6:74189023..74192495,3	K562	blood:
2	chr6:74181613..74183690-chr6:74190561..74192135,2	K562	blood:
3	chr6:74173841..74176541-chr6:74188784..74190824,2	K562	blood:
4	chr6:74189673..74193242-chr6:74229143..74231708,4	MCF-7	breast:

No data

Variant related genes	Relation type
MTO1	TF binding region
ENSG00000135297	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000264609	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10455278	1.00[EUR][1000 genomes]
rs12191034	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12194939	1.00[CEU][hapmap]
rs12198839	1.00[AFR][1000 genomes]
rs12201569	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12201895	1.00[EUR][1000 genomes]
rs12205147	1.00[AFR][1000 genomes]
rs12205725	1.00[AFR][1000 genomes]
rs12209309	1.00[CEU][hapmap]
rs12211460	1.00[AFR][1000 genomes]
rs12212088	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12214308	1.00[CEU][hapmap]
rs12214703	1.00[CEU][hapmap]
rs41265519	1.00[AFR][1000 genomes]
rs56164122	1.00[EUR][1000 genomes]
rs56375536	1.00[AFR][1000 genomes]
rs72951364	1.00[AFR][1000 genomes]
rs72953359	1.00[AFR][1000 genomes]
rs7761170	1.00[CEU][hapmap]
rs7763873	1.00[CEU][hapmap]

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	esv3388795	chr6:74190583-74190696	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 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	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
2	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
4	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:74174000-74193600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr6:74175600-74198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:74175600-74199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:74175600-74199000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:74175800-74196800	Strong transcription	Liver	Liver
15	chr6:74175800-74197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:74175800-74198000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:74175800-74198800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:74175800-74198800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:74175800-74198800	Strong transcription	Placenta	Placenta
20	chr6:74175800-74199000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr6:74175800-74199200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:74175800-74201000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:74176000-74192200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:74176000-74192200	Strong transcription	Fetal Lung	lung
25	chr6:74176000-74198800	Strong transcription	Brain Anterior Caudate	brain
26	chr6:74176000-74198800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:74176000-74198800	Strong transcription	Fetal Intestine Large	intestine
28	chr6:74176000-74199000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:74176000-74199000	Strong transcription	Adipose Nuclei	Adipose
30	chr6:74176000-74199200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:74176600-74197400	Weak transcription	Fetal Brain Male	brain
32	chr6:74177600-74199000	Strong transcription	Dnd41	blood
33	chr6:74180600-74199000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:74181400-74192400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:74181400-74199000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:74181600-74199000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:74181600-74199000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:74181800-74214800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:74182000-74192200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:74182200-74196400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:74182200-74198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:74182400-74192400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:74182400-74198800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:74182400-74206200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:74182600-74198800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:74182600-74198800	Strong transcription	Fetal Intestine Small	intestine
47	chr6:74182600-74199000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:74182800-74192200	Strong transcription	Thymus	Thymus
49	chr6:74182800-74192600	Strong transcription	Ovary	ovary
50	chr6:74182800-74198800	Strong transcription	Primary T cells from cord blood	blood

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