Variant report

Variant	rs218225
Chromosome Location	chr2:33335120-33335121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33332965..33336318-chr2:33345461..33348526,4	K562	blood:
2	chr2:33333082..33335535-chr2:33335888..33338274,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1000951	0.85[MEX][hapmap]
rs10189552	1.00[YRI][hapmap]
rs1028598	0.85[MEX][hapmap]
rs1545552	1.00[CHB][hapmap]
rs17397149	0.85[MEX][hapmap];1.00[YRI][hapmap]
rs17397310	0.85[MEX][hapmap]
rs1902030	1.00[YRI][hapmap]
rs218195	1.00[CHD][hapmap]
rs218199	1.00[YRI][hapmap]
rs2198568	1.00[CHD][hapmap]
rs4670893	1.00[CHB][hapmap]
rs6714546	1.00[CHB][hapmap]
rs6758871	0.85[MEX][hapmap]
rs897090	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9678351	1.00[YRI][hapmap]

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	nsv869582	chr2:32626571-33335810	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1012897	chr2:32635272-33335508	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1012472	chr2:32657052-33338578	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005878	chr2:32724734-33335870	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv535620	chr2:32724734-33335870	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
9	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1001408	chr2:33248877-33341137	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv535625	chr2:33248877-33341137	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs218225	BIRC6	cis	parietal	SCAN
rs218225	SPAST	cis	parietal	SCAN
rs218225	SPAST	cis	cerebellum	SCAN
rs218225	CRIM1	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33328800-33347800	Weak transcription	Psoas Muscle	Psoas
2	chr2:33329600-33335600	Weak transcription	Liver	Liver
3	chr2:33330000-33335600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:33330000-33337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:33330400-33335600	Weak transcription	A549	lung
6	chr2:33333000-33336800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33333200-33336600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:33333200-33336600	Enhancers	Fetal Lung	lung
9	chr2:33333400-33346600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:33333600-33342200	Weak transcription	Small Intestine	intestine
11	chr2:33333800-33336000	Weak transcription	HUVEC	blood vessel
12	chr2:33333800-33336200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:33333800-33339600	Weak transcription	Spleen	Spleen
14	chr2:33333800-33355200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:33334000-33335600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:33334000-33336000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:33334000-33336200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:33334200-33335400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:33334200-33336800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:33334200-33336800	Enhancers	Ovary	ovary
21	chr2:33334200-33342000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:33334400-33335200	Enhancers	K562	blood
23	chr2:33334400-33335400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:33334400-33335400	Weak transcription	Osteobl	bone
25	chr2:33334400-33335600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:33334400-33335600	Weak transcription	HSMM	muscle
27	chr2:33334400-33336400	Weak transcription	Right Atrium	heart
28	chr2:33334400-33338200	Weak transcription	Placenta	Placenta
29	chr2:33334400-33338200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:33334400-33341800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:33334400-33342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:33334400-33342000	Weak transcription	Left Ventricle	heart
33	chr2:33334600-33335400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:33334600-33335400	Weak transcription	Fetal Heart	heart
35	chr2:33334600-33335600	Weak transcription	HSMMtube	muscle
36	chr2:33334600-33335600	Weak transcription	NH-A	brain
37	chr2:33334600-33335600	Weak transcription	NHLF	lung
38	chr2:33334600-33337000	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:33334600-33342000	Weak transcription	Aorta	Aorta
40	chr2:33334800-33335200	Weak transcription	NHDF-Ad	bronchial
41	chr2:33334800-33336200	Weak transcription	Fetal Stomach	stomach
42	chr2:33334800-33336800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:33335000-33335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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