Variant report

Variant	rs2037012
Chromosome Location	chr4:76566975-76566976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76560792..76563538-chr4:76565983..76568591,2	K562	blood:
2	chr4:76559922..76562552-chr4:76562802..76567805,5	K562	blood:
3	chr4:76561971..76564906-chr4:76565312..76567173,3	MCF-7	breast:
4	chr4:76565197..76568229-chr4:76577343..76579851,3	K562	blood:
5	chr4:76566167..76568657-chr4:76571863..76573668,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17000766	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1801838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017607	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41398350	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56084244	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56151783	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56308338	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56693719	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56728961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57008925	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57099382	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58140957	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58822138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59405026	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59448225	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59684133	0.81[AFR][1000 genomes]
rs60332325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66606482	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67662392	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6812339	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68155345	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6818849	0.80[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6821144	1.00[AMR][1000 genomes]
rs6823013	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6843244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6857983	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72649405	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879495	chr4:76493256-76585823	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv1793652	chr4:76521217-76581775	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2037012	SDAD1	cis	parietal	SCAN
rs2037012	FAM47E	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76556200-76567600	Weak transcription	Liver	Liver
2	chr4:76556200-76590000	Weak transcription	Small Intestine	intestine
3	chr4:76556400-76567000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:76556400-76567400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:76556400-76567400	Weak transcription	Placenta	Placenta
6	chr4:76556400-76567400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:76556400-76567800	Weak transcription	NHDF-Ad	bronchial
8	chr4:76556400-76568000	Weak transcription	Primary B cells from cord blood	blood
9	chr4:76556400-76568000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:76556400-76568000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:76556400-76568200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:76556400-76568600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:76556400-76568600	Weak transcription	GM12878-XiMat	blood
14	chr4:76556400-76568600	Weak transcription	HUVEC	blood vessel
15	chr4:76556400-76568600	Weak transcription	Osteobl	bone
16	chr4:76556400-76568800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:76556400-76568800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:76556400-76568800	Weak transcription	Thymus	Thymus
19	chr4:76556400-76568800	Weak transcription	NH-A	brain
20	chr4:76556400-76569000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:76556400-76569000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:76556400-76569000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:76556400-76569000	Weak transcription	Stomach Mucosa	stomach
24	chr4:76556400-76569800	Weak transcription	Psoas Muscle	Psoas
25	chr4:76556400-76570000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:76556400-76570000	Weak transcription	Fetal Brain Male	brain
27	chr4:76556400-76570200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:76556400-76570600	Weak transcription	Esophagus	oesophagus
29	chr4:76556400-76570600	Weak transcription	Lung	lung
30	chr4:76556400-76570600	Weak transcription	Ovary	ovary
31	chr4:76556400-76570600	Weak transcription	Spleen	Spleen
32	chr4:76556600-76567000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:76556600-76567200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:76556600-76567200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:76556600-76567400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:76556600-76567600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:76556600-76567600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:76556600-76567800	Weak transcription	A549	lung
39	chr4:76556600-76568000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:76556600-76568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:76556600-76568600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:76556600-76568600	Weak transcription	Primary T cells from cord blood	blood
43	chr4:76556600-76568600	Weak transcription	Fetal Lung	lung
44	chr4:76556600-76568600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:76556600-76568800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:76556600-76568800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:76556600-76568800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:76556600-76568800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:76556600-76568800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:76556600-76568800	Weak transcription	Brain Angular Gyrus	brain

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