Variant report

Variant	rs7367845
Chromosome Location	chr1:226445528-226445529
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10753418	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10799340	0.87[MEX][hapmap]
rs12136759	0.87[MEX][hapmap]
rs1219652	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1219654	0.81[ASN][1000 genomes]
rs1219659	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1361559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2199501	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2306119	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2927339	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008189	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008190	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008191	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008192	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6668540	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6703375	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7368170	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9286999	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9629826	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9728663	0.84[ASN][1000 genomes]
rs9728665	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7367845	ACBD3	Cis_1M	lymphoblastoid	RTeQTL
rs7367845	PARP1	cis	cerebellum	SCAN
rs7367845	ACBD3	cis	normal skin	skin_eQTL
rs7367845	JMJD4	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226412000-226455400	Weak transcription	Ovary	ovary
3	chr1:226412000-226456200	Weak transcription	NH-A	brain
4	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
5	chr1:226412200-226448000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:226412400-226446800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:226413000-226448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
11	chr1:226413600-226447000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:226413600-226447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:226414000-226456800	Weak transcription	Fetal Kidney	kidney
14	chr1:226414200-226447200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:226414200-226454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:226414600-226457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:226415600-226450000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:226415800-226495400	Weak transcription	Liver	Liver
21	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:226416400-226457400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:226418400-226455400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
25	chr1:226421800-226457400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:226424400-226449800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:226425000-226452200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:226425000-226456200	Weak transcription	HMEC	breast
29	chr1:226425000-226456600	Weak transcription	NHEK	skin
30	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:226425600-226447800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:226426200-226446800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:226426200-226449000	Weak transcription	Fetal Brain Female	brain
34	chr1:226426800-226447800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:226427000-226447800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:226427000-226450200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:226427800-226448000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:226432800-226452400	Weak transcription	Fetal Intestine Large	intestine
39	chr1:226433000-226450200	Weak transcription	A549	lung
40	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:226436400-226447000	Weak transcription	GM12878-XiMat	blood
42	chr1:226436600-226447000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
44	chr1:226437000-226447600	Weak transcription	Fetal Lung	lung
45	chr1:226437400-226455200	Weak transcription	Hela-S3	cervix
46	chr1:226437600-226445600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:226438200-226447800	Weak transcription	Fetal Heart	heart
48	chr1:226438400-226447000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:226438400-226447400	Weak transcription	Primary T cells from cord blood	blood
50	chr1:226438400-226447800	Weak transcription	HSMM	muscle

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