Variant report

Variant	rs1784493
Chromosome Location	chr8:107673897-107673898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1080965	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1580428	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];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580429	0.87[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap]
rs1676418	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676419	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681881	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1681887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875004	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs1784468	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784476	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1784478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1784484	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1784485	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1784489	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702776	0.82[EUR][1000 genomes]
rs702777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682834	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs776935	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776942	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];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776943	0.87[CEU][hapmap]
rs776952	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776956	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776958	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776964	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776966	0.87[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap]
rs776967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812907	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs936737	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs959301	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1784493	TMEM74	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107670800-107675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107670800-107675800	Weak transcription	Spleen	Spleen
3	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:107671000-107675800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:107671200-107674200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:107671200-107674800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:107671200-107675800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:107671200-107675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:107671200-107697200	Weak transcription	HSMM	muscle
10	chr8:107671400-107676600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:107671600-107674400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:107671600-107674400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:107671600-107675000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:107671600-107675800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:107672000-107675800	Weak transcription	Right Atrium	heart
16	chr8:107672200-107675800	Weak transcription	Esophagus	oesophagus
17	chr8:107672200-107675800	Weak transcription	Left Ventricle	heart
18	chr8:107672200-107675800	Weak transcription	Ovary	ovary
19	chr8:107672200-107675800	Weak transcription	Pancreas	Pancrea
20	chr8:107672200-107675800	Weak transcription	Thymus	Thymus
21	chr8:107672200-107677200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:107672200-107677200	Weak transcription	Lung	lung
23	chr8:107672200-107677400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
25	chr8:107672400-107685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:107672600-107675200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:107672600-107676000	Weak transcription	Fetal Intestine Large	intestine
29	chr8:107672600-107678800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:107672600-107678800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:107672600-107679200	Weak transcription	Primary T cells from cord blood	blood
32	chr8:107672600-107679200	Weak transcription	NHEK	skin
33	chr8:107672600-107681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:107672600-107682200	Weak transcription	Aorta	Aorta
35	chr8:107672600-107683600	Weak transcription	Hela-S3	cervix
36	chr8:107672600-107684400	Weak transcription	Fetal Intestine Small	intestine
37	chr8:107672600-107684800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:107672600-107686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:107672600-107696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:107672800-107674400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:107672800-107675400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:107672800-107675600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:107672800-107675600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:107672800-107675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:107672800-107675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:107672800-107675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:107672800-107675800	Active TSS	GM12878-XiMat	blood
48	chr8:107672800-107677800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:107672800-107680600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:107672800-107685800	Weak transcription	Rectal Mucosa Donor 29	rectum

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