Variant report

Variant	rs7633318
Chromosome Location	chr3:178741484-178741485
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178736144..178738008-chr3:178740817..178744400,3	K562	blood:
2	chr3:178741058..178743011-chr3:178747228..178749203,2	K562	blood:
3	chr3:178739768..178742264-chr3:178744553..178747173,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2677770	0.93[GIH][hapmap]
rs2699887	0.93[GIH][hapmap]
rs2699905	0.93[GIH][hapmap]
rs4579062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs4637331	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4955807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs4955810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]
rs6772028	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6784495	0.83[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap]
rs6790867	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs6793893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6800015	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs6804084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7639391	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs9831543	0.82[CEU][hapmap]
rs9968179	0.83[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1009143	chr3:178731525-178783915	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv1799481	chr3:178733212-178782021	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7633318	KCNMB3	cis	parietal	SCAN
rs7633318	ATP11B	cis	parietal	SCAN
rs7633318	YEATS2	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178716400-178755000	Weak transcription	Pancreas	Pancrea
2	chr3:178717400-178744400	Weak transcription	HMEC	breast
3	chr3:178722200-178751600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:178723400-178749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:178723800-178754200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:178731400-178744400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:178732600-178744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:178733400-178751400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:178733800-178742000	Weak transcription	Liver	Liver
10	chr3:178733800-178754600	Weak transcription	Lung	lung
11	chr3:178734000-178755200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:178734000-178755400	Weak transcription	HepG2	liver
13	chr3:178735000-178742200	Weak transcription	NHDF-Ad	bronchial
14	chr3:178735000-178742800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:178735000-178742800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:178735000-178763800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:178735600-178744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:178735600-178745600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:178735800-178751600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:178736000-178741800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:178736200-178744400	Weak transcription	NHLF	lung
22	chr3:178738000-178764000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:178738200-178744400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:178738200-178751600	Weak transcription	Stomach Mucosa	stomach
25	chr3:178738400-178745000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:178738600-178742200	Weak transcription	Fetal Thymus	thymus
27	chr3:178738600-178744400	Weak transcription	Fetal Lung	lung
28	chr3:178738600-178744400	Weak transcription	Small Intestine	intestine
29	chr3:178738600-178745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:178738600-178745600	Weak transcription	Brain Anterior Caudate	brain
31	chr3:178738600-178745600	Weak transcription	Thymus	Thymus
32	chr3:178738600-178748400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:178738600-178751600	Weak transcription	Adipose Nuclei	Adipose
34	chr3:178738600-178751600	Weak transcription	Gastric	stomach
35	chr3:178738600-178751600	Weak transcription	Ovary	ovary
36	chr3:178738600-178754800	Weak transcription	Spleen	Spleen
37	chr3:178738600-178755000	Weak transcription	Aorta	Aorta
38	chr3:178738600-178757000	Weak transcription	Fetal Stomach	stomach
39	chr3:178738800-178742000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:178738800-178742000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:178738800-178743000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:178738800-178744400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:178738800-178745200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:178738800-178745400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:178738800-178745600	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:178738800-178745600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:178738800-178748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:178738800-178754400	Weak transcription	Psoas Muscle	Psoas
49	chr3:178738800-178755800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr3:178738800-178757000	Weak transcription	Brain Inferior Temporal Lobe	brain

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