Variant report

Variant	rs7678749
Chromosome Location	chr4:107278978-107278979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:107275880..107279456-chr4:107281523..107285039,4	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10084928	0.95[ASN][1000 genomes]
rs10433894	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516532	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10516533	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10516534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097914	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097916	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097917	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097919	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097924	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097925	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097927	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097928	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097929	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930970	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940160	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947335	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499891	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12500295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500775	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12501801	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502764	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12503753	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12504704	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12504721	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12506062	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12507429	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12507874	0.85[ASN][1000 genomes]
rs12508432	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12509865	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12510058	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12511305	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12512877	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512903	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512966	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12639869	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12641015	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12641037	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12642059	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12642227	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12642454	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643397	0.95[ASN][1000 genomes]
rs12644259	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12644596	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12645255	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12645271	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12645490	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645698	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12645743	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12646263	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12646485	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12647078	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12648091	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12649709	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12651360	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13534	1.00[ASN][1000 genomes]
rs17036613	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17273093	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17273445	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17274017	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17274248	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17275217	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17333287	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17333732	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17333879	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17333899	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1988695	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290607	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28507027	0.95[ASN][1000 genomes]
rs28765420	0.93[ASN][1000 genomes]
rs28787305	0.95[ASN][1000 genomes]
rs28814088	0.89[ASN][1000 genomes]
rs28868894	0.95[ASN][1000 genomes]
rs28875879	0.95[ASN][1000 genomes]
rs34193646	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34899289	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34961213	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737497	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737498	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762945	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762946	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762947	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775090	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3792718	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805405	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805407	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805409	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805410	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3805411	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422480	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4429790	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4458525	0.95[ASN][1000 genomes]
rs4466113	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4481295	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4607300	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4645291	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55634475	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55710349	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55726133	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55753411	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833794	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56009469	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56135499	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56231393	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56260521	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56329826	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56333662	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56341229	0.95[ASN][1000 genomes]
rs56775039	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56833325	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57246774	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59228887	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59784613	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61256759	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61544154	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533240	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533243	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533245	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6533246	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6810877	0.93[ASN][1000 genomes]
rs6814166	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815014	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6816614	0.95[ASN][1000 genomes]
rs6816698	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6818197	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6818626	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6819224	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819742	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822692	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6827816	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6828660	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829795	0.95[ASN][1000 genomes]
rs6831032	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831665	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6838283	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6843870	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6844324	0.95[ASN][1000 genomes]
rs6849341	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856408	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858391	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72489522	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72876575	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72876590	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72876592	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72876594	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72878537	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72893620	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7340989	0.93[ASN][1000 genomes]
rs73839422	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73839455	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73839456	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654865	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655054	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7658701	0.95[ASN][1000 genomes]
rs7661565	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7662219	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7662291	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7662395	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7664032	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7664188	0.95[ASN][1000 genomes]
rs7665946	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7667719	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7668477	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7669087	0.95[ASN][1000 genomes]
rs7669212	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7671145	0.93[ASN][1000 genomes]
rs7673949	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7674381	0.84[ASN][1000 genomes]
rs7674460	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674466	0.89[ASN][1000 genomes]
rs7674796	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7674931	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678943	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688008	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7688411	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7697996	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7698386	0.94[ASN][1000 genomes]
rs7699768	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9684658	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9685018	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7678749	MGC16169	Cis_1M	lymphoblastoid	RTeQTL
rs7678749	MGC16169	cis	multi-tissue	Pritchard
rs7678749	SCYE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107258600-107281400	Weak transcription	Fetal Heart	heart
2	chr4:107260800-107285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:107270200-107280400	Weak transcription	NH-A	brain
4	chr4:107270400-107280000	Weak transcription	Fetal Kidney	kidney
5	chr4:107270600-107286200	Weak transcription	HepG2	liver
6	chr4:107270800-107283200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:107271200-107286400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:107272200-107280400	Weak transcription	HSMM	muscle
10	chr4:107272800-107280000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:107273000-107280200	Weak transcription	NHEK	skin
12	chr4:107273000-107286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:107273000-107286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:107273200-107280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:107273400-107282000	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:107275000-107279000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:107276000-107279600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:107276400-107279000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:107276800-107280000	Weak transcription	NHLF	lung
20	chr4:107277200-107280400	Weak transcription	Osteobl	bone
21	chr4:107277400-107280000	Weak transcription	Monocytes-CD14+_RO01746	blood

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