Variant report

Variant	rs776942
Chromosome Location	chr8:107717026-107717027
allele	A/G
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	CTCF	chr8:107716922-107717978	A549	lung:	n/a	chr8:107717474-107717490 chr8:107717475-107717496 chr8:107717473-107717491

No.	Distal block	Cell Line	Cell type
1	chr8:107669671..107671517-chr8:107714506..107717321,2	MCF-7	breast:
2	chr8:107716979..107717925-chr8:107843932..107844743,2	MCF-7	breast:
3	chr8:107716793..107717867-chr8:107868568..107869413,5	MCF-7	breast:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000164830	Chromatin interaction
ENSG00000253582	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1080965	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1552302	0.81[AMR][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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1580429	0.87[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1676418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1676419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1681881	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1681887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16875004	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs1784468	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1784470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1784476	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1784478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1784484	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1784485	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1784489	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1784493	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]
rs2035516	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs702777	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72682834	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs763904	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs776935	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776943	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs776952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776953	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs776956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776957	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs776958	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776964	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs776968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs812907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs936737	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs959301	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs776942	TMEM74	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
2	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
5	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
6	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
7	chr8:107688600-107718600	Weak transcription	Stomach Mucosa	stomach
8	chr8:107690200-107730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:107691600-107718600	Weak transcription	K562	blood
10	chr8:107692000-107738400	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:107692800-107725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:107694600-107719000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:107694600-107738000	Weak transcription	Fetal Heart	heart
14	chr8:107695000-107725800	Weak transcription	NHLF	lung
15	chr8:107695800-107718600	Weak transcription	NHEK	skin
16	chr8:107696000-107718800	Weak transcription	A549	lung
17	chr8:107696000-107737200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:107696200-107718800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:107697800-107718400	Weak transcription	HUVEC	blood vessel
20	chr8:107697800-107718800	Weak transcription	Osteobl	bone
21	chr8:107697800-107719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:107697800-107723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:107698000-107718600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:107698000-107718600	Weak transcription	NH-A	brain
25	chr8:107698000-107719000	Weak transcription	Fetal Kidney	kidney
26	chr8:107698000-107723000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:107698200-107718600	Weak transcription	HepG2	liver
28	chr8:107698200-107718800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:107698200-107718800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:107698200-107718800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:107698200-107731000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:107698400-107718600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:107698400-107718600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:107698400-107718800	Weak transcription	HSMM	muscle
35	chr8:107699400-107718800	Weak transcription	NHDF-Ad	bronchial
36	chr8:107701400-107717400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:107705400-107718600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:107705400-107718600	Weak transcription	HMEC	breast
39	chr8:107705400-107718800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:107706000-107718600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:107706000-107723600	Weak transcription	Brain Anterior Caudate	brain
42	chr8:107706600-107718600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:107707800-107723600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:107707800-107737800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:107708800-107725600	Weak transcription	Fetal Brain Male	brain
46	chr8:107709000-107718600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:107710000-107718200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:107710000-107718800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:107710000-107723800	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:107710200-107718600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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