Variant report

Variant	rs183402
Chromosome Location	chr17:45251260-45251261
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	chr17:45251180-45251387	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45250177..45252891-chr17:45399741..45402575,2	K562	blood:
2	chr17:45249552..45252803-chr17:45263494..45265675,3	MCF-7	breast:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 7 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
3	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3790	chr17:45247093-45261518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3344584	chr17:45247298-45258989	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3437669	chr17:45249306-45259022	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3314728	chr17:45249324-45258982	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3314730	chr17:45249324-45258982	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3431737	chr17:45249325-45259054	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3362151	chr17:45249372-45258977	ZNF genes & repeats Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3450592	chr17:45249392-45258947	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs183402	LOC100294346,LOC644366	cis	thalamus	BrainEAC
rs183402	LOC100294346,LOC644366	cis	inferior olivary nucleus	BrainEAC
rs183402	LOC100294346,LOC644366	cis	brain	BrainEAC
rs183402	LOC100294346,LOC644366	cis	occipital cortex	BrainEAC
rs183402	LOC100294346,LOC644366	cis	hippocampus	BrainEAC
rs183402	LOC100294346,LOC644366	cis	frontal cortex	BrainEAC
rs183402	LOC100294346,LOC644366	cis	temporal cortex	BrainEAC

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45246400-45251600	Weak transcription	Fetal Brain Female	brain
2	chr17:45246600-45251600	Weak transcription	Brain Germinal Matrix	brain
3	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:45247600-45255400	Strong transcription	HepG2	liver
5	chr17:45249400-45256200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:45249600-45251400	Weak transcription	Primary T cells from cord blood	blood
7	chr17:45249600-45251400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr17:45249600-45251400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:45249600-45251400	Weak transcription	Liver	Liver
10	chr17:45249600-45251400	Weak transcription	K562	blood
11	chr17:45249600-45251600	Weak transcription	Right Ventricle	heart
12	chr17:45249600-45252200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr17:45249600-45252200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:45249600-45252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:45249600-45252400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr17:45249600-45252400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:45249600-45252400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:45249600-45252400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr17:45249600-45252400	Weak transcription	NHDF-Ad	bronchial
20	chr17:45249600-45252400	Weak transcription	NHEK	skin
21	chr17:45249600-45252600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:45249600-45252600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr17:45249600-45252600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:45249600-45252600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:45249600-45252600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45249600-45252600	Weak transcription	NH-A	brain
27	chr17:45249600-45252800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:45249600-45252800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:45249600-45252800	Weak transcription	Thymus	Thymus
30	chr17:45249600-45253000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr17:45249600-45253200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:45249600-45253400	Strong transcription	Primary B cells from cord blood	blood
33	chr17:45249600-45253600	Weak transcription	Colon Smooth Muscle	Colon
34	chr17:45249600-45253800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:45249600-45253800	Weak transcription	Hela-S3	cervix
36	chr17:45249600-45254000	Weak transcription	Fetal Lung	lung
37	chr17:45249600-45254000	Weak transcription	HMEC	breast
38	chr17:45249600-45254400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:45249600-45254400	Weak transcription	Placenta	Placenta
40	chr17:45249600-45254600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:45249600-45254600	Weak transcription	Brain Anterior Caudate	brain
42	chr17:45249600-45254800	Weak transcription	Ovary	ovary
43	chr17:45249600-45255200	Weak transcription	Fetal Heart	heart
44	chr17:45249600-45255200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:45249600-45255400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr17:45249600-45255600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr17:45249600-45255600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:45249600-45256200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:45249600-45256200	Weak transcription	NHLF	lung
50	chr17:45249600-45256400	Weak transcription	Brain Angular Gyrus	brain

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