Variant report

Variant	rs6784327
Chromosome Location	chr3:42305567-42305568
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	E2F6	chr3:42304700-42305572	H1-hESC	embryonic stem cell:	n/a	chr3:42305289-42305303 chr3:42305297-42305306

Variant related genes	Relation type
CCK	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11571857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571875	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv529988	chr3:41938089-42378111	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1009125	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536549	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv460521	chr3:42290088-42351803	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv590147	chr3:42290088-42351803	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42303200-42305600	Enhancers	HMEC	breast
2	chr3:42303800-42307600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:42304400-42305600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:42304400-42305800	Flanking Active TSS	NHEK	skin
5	chr3:42304600-42305600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:42304600-42305600	Bivalent Enhancer	Esophagus	oesophagus
7	chr3:42304800-42305600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:42304800-42305600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:42304800-42305600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr3:42304800-42305600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:42304800-42305600	Bivalent Enhancer	Adipose Nuclei	Adipose
12	chr3:42304800-42305600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
13	chr3:42304800-42305600	Bivalent Enhancer	Left Ventricle	heart
14	chr3:42304800-42305600	Enhancers	Pancreas	Pancrea
15	chr3:42304800-42305600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr3:42304800-42305800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:42304800-42306200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr3:42304800-42306400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr3:42304800-42306400	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr3:42304800-42306400	Bivalent Enhancer	Liver	Liver
21	chr3:42304800-42306600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr3:42304800-42306600	Bivalent Enhancer	Fetal Heart	heart
23	chr3:42304800-42306800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr3:42304800-42307000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr3:42304800-42307000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
26	chr3:42304800-42307400	Bivalent Enhancer	Fetal Brain Male	brain
27	chr3:42304800-42307400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr3:42304800-42307600	Bivalent Enhancer	Placenta	Placenta
29	chr3:42305000-42305600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:42305000-42305800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
31	chr3:42305000-42306000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
32	chr3:42305000-42306600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr3:42305000-42307400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:42305200-42305600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:42305200-42305600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:42305200-42305600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
37	chr3:42305200-42305600	Flanking Bivalent TSS/Enh	NH-A	brain
38	chr3:42305200-42306000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr3:42305200-42306600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:42305200-42306800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:42305400-42305600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:42305400-42305600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr3:42305400-42305600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
44	chr3:42305400-42305600	Bivalent Enhancer	Fetal Brain Female	brain
45	chr3:42305400-42305600	Enhancers	Right Ventricle	heart
46	chr3:42305400-42305800	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr3:42305400-42305800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
48	chr3:42305400-42306000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr3:42305400-42306000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:42305400-42306000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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