Variant report

Variant	rs9967884
Chromosome Location	chr2:30488183-30488184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30452974..30456196-chr2:30487344..30491801,6	K562	blood:
2	chr2:30486455..30489826-chr2:30493226..30495888,3	K562	blood:
3	chr2:30486354..30489346-chr2:30498547..30500363,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10171296	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10171305	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1039835	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1039836	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11127264	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11678385	1.00[CHB][hapmap];0.89[YRI][hapmap];0.91[ASN][1000 genomes]
rs12467372	0.81[ASN][1000 genomes]
rs12467407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs12988733	0.81[ASN][1000 genomes]
rs13386455	0.90[CEU][hapmap]
rs17009304	0.90[CEU][hapmap]
rs17009315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17321999	0.90[CEU][hapmap]
rs2089657	0.85[CEU][hapmap]
rs3817143	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4952115	0.90[CEU][hapmap]
rs57667995	0.91[ASN][1000 genomes]
rs58645306	0.93[EUR][1000 genomes]
rs6548005	0.90[CEU][hapmap]
rs6708792	0.83[CEU][hapmap]
rs6732241	0.90[CEU][hapmap]
rs6733372	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs72787718	0.90[EUR][1000 genomes]
rs72787721	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72787722	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72787724	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604484	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs906865	0.85[CEU][hapmap]
rs906867	0.90[CEU][hapmap]
rs9309678	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9558	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9967884	MPV17	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30476600-30496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30477000-30488800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:30477800-30489000	Weak transcription	Stomach Mucosa	stomach
4	chr2:30478000-30488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:30478200-30488400	Weak transcription	Right Atrium	heart
6	chr2:30479200-30489000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:30481000-30489400	Weak transcription	Small Intestine	intestine
8	chr2:30481400-30489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:30481600-30489200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:30482000-30489600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:30482200-30488400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:30482200-30489000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:30482200-30489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:30482400-30488400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:30482400-30489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:30482400-30489000	Weak transcription	Pancreas	Pancrea
17	chr2:30482400-30489000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:30482400-30491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:30482600-30488400	Weak transcription	Lung	lung
20	chr2:30482600-30489000	Weak transcription	Esophagus	oesophagus
21	chr2:30482600-30489000	Weak transcription	Placenta	Placenta
22	chr2:30482800-30488400	Weak transcription	NH-A	brain
23	chr2:30482800-30489000	Weak transcription	Aorta	Aorta
24	chr2:30483200-30488400	Weak transcription	Left Ventricle	heart
25	chr2:30483200-30488800	Weak transcription	Fetal Heart	heart
26	chr2:30483400-30488400	Weak transcription	Osteobl	bone
27	chr2:30483400-30488800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:30483600-30489000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:30483800-30488400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:30483800-30488400	Weak transcription	Thymus	Thymus
31	chr2:30484000-30488400	Weak transcription	HSMM	muscle
32	chr2:30484000-30488400	Weak transcription	HSMMtube	muscle
33	chr2:30484000-30488400	Weak transcription	NHDF-Ad	bronchial
34	chr2:30484000-30488400	Weak transcription	NHLF	lung
35	chr2:30484000-30488800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:30485000-30488400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:30485600-30488400	Weak transcription	A549	lung
38	chr2:30485800-30488400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:30486800-30488400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:30486800-30488400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:30487000-30488200	Enhancers	Primary T cells from cord blood	blood
42	chr2:30487000-30488400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:30487000-30488400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:30487000-30490600	Enhancers	Fetal Intestine Small	intestine
45	chr2:30487200-30488600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:30487200-30491600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
48	chr2:30487400-30488400	Weak transcription	Fetal Thymus	thymus
49	chr2:30487400-30488600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:30487400-30488800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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