Variant report

Variant	rs2937121
Chromosome Location	chr16:69870409-69870410
allele	A/C
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	MXI1	chr16:69870002-69870703	SK-N-SH	brain:	n/a	chr16:69870399-69870414
2	EP300	chr16:69870056-69870698	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69869109..69871845-chr16:69872225..69875897,4	K562	blood:

Variant related genes	Relation type
WWP2	TF binding region
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10852461	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs11075744	0.96[CEU][hapmap];0.84[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12446168	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12446197	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12598642	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12919094	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12921407	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12926791	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12927052	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12927168	0.86[ASN][1000 genomes]
rs12927431	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1437134	0.85[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs1466863	0.92[CHD][hapmap];0.83[MEX][hapmap]
rs1500337	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1566453	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1566454	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1566455	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2102067	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2270842	0.84[LWK][hapmap]
rs2291959	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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2362641	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2362642	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes]
rs2937124	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3790075	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3790076	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3790078	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3790080	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3790083	1.00[CHD][hapmap];0.83[MEX][hapmap]
rs4146819	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes]
rs4296254	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985448	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4985449	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4985450	0.92[CHD][hapmap];0.83[MEX][hapmap]
rs6499240	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs6499244	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs6499263	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6499268	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6499269	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6499270	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs68161338	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7190013	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7192213	0.83[EUR][1000 genomes]
rs7193038	0.87[EUR][1000 genomes]
rs7196842	0.89[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7359336	0.84[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs8044876	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8047682	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8048550	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8049373	0.86[EUR][1000 genomes]
rs8050414	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8051168	1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8052225	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8060478	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9940315	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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2937121	CBFB	cis	parietal	SCAN
rs2937121	PDXDC2P	cis	parietal	SCAN
rs2937121	TPPP3	cis	cerebellum	SCAN
rs2937121	NOB1	cis	parietal	SCAN
rs2937121	WWP2	cis	cerebellum	SCAN
rs2937121	ACD	cis	cerebellum	SCAN
rs2937121	DUS2L	cis	cerebellum	SCAN
rs2937121	AGRP	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:69833800-69874600	Weak transcription	Dnd41	blood
3	chr16:69833800-69875600	Weak transcription	NHEK	skin
4	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:69838600-69873000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:69838800-69874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:69846600-69874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:69846600-69875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:69852000-69893200	Weak transcription	K562	blood
12	chr16:69853200-69875000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:69853200-69878400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:69853400-69880000	Weak transcription	Hela-S3	cervix
15	chr16:69855200-69873800	Weak transcription	HMEC	breast
16	chr16:69855200-69875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:69855400-69874800	Weak transcription	Brain Germinal Matrix	brain
18	chr16:69855600-69877000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:69856200-69875200	Weak transcription	Fetal Brain Female	brain
20	chr16:69858400-69873800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:69858600-69873800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:69862200-69872200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:69863200-69871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:69863600-69873600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr16:69864000-69871200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr16:69864000-69871600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr16:69864600-69874400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:69864800-69871400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr16:69864800-69874000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:69865000-69871400	Weak transcription	Thymus	Thymus
31	chr16:69865000-69873200	Weak transcription	Ovary	ovary
32	chr16:69865000-69875400	Weak transcription	Esophagus	oesophagus
33	chr16:69865000-69887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:69865200-69873000	Weak transcription	Aorta	Aorta
35	chr16:69865200-69873200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:69865200-69875400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:69865200-69879000	Weak transcription	NHLF	lung
38	chr16:69865400-69874800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr16:69865600-69871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:69865600-69881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:69866000-69873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:69866200-69872400	Weak transcription	Small Intestine	intestine
43	chr16:69867000-69874400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr16:69867000-69888400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr16:69867400-69870800	Weak transcription	Fetal Thymus	thymus
46	chr16:69867400-69874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:69867400-69881800	Weak transcription	NHDF-Ad	bronchial
48	chr16:69867600-69872200	Weak transcription	HSMM	muscle
49	chr16:69867600-69875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:69867800-69872400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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