Variant report

Variant	rs7584127
Chromosome Location	chr2:100001941-100001942
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	POLR2A	chr2:100001910-100001980	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99952493..99955462-chr2:100001894..100004691,2	MCF-7	breast:

Variant related genes	Relation type
EIF5B	TF binding region
ENSG00000115514	Chromatin interaction
ENSG00000158417	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1011633	0.89[EUR][1000 genomes]
rs10187843	0.84[ASN][1000 genomes]
rs1053544	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865031	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11123786	0.82[ASN][1000 genomes]
rs11679115	0.80[ASN][1000 genomes]
rs11683651	0.80[ASN][1000 genomes]
rs11884686	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11892441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899745	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11902994	0.80[ASN][1000 genomes]
rs12052986	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12464535	0.80[ASN][1000 genomes]
rs12464785	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465846	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12475639	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12623540	0.80[ASN][1000 genomes]
rs13018274	0.83[ASN][1000 genomes]
rs13389623	0.82[ASN][1000 genomes]
rs1376443	0.80[ASN][1000 genomes]
rs1451246	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1584647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1584648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17022564	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17022629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1807985	0.82[ASN][1000 genomes]
rs1839666	0.87[EUR][1000 genomes]
rs1839667	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1973011	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2053917	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2122748	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242037	0.82[ASN][1000 genomes]
rs2290255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290256	0.83[ASN][1000 genomes]
rs2290261	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305354	0.82[ASN][1000 genomes]
rs2309576	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2309604	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2309617	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28382946	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28382984	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3749087	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791212	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792137	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3792142	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3792144	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3792152	0.80[ASN][1000 genomes]
rs3828316	0.82[ASN][1000 genomes]
rs4143760	0.87[EUR][1000 genomes]
rs4476396	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4535093	0.82[ASN][1000 genomes]
rs4850903	0.80[ASN][1000 genomes]
rs4851204	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4851205	0.82[ASN][1000 genomes]
rs4851206	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4851208	0.85[EUR][1000 genomes]
rs55815229	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57242893	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57977991	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58086269	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58958283	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59178618	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59661148	0.98[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60257640	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61103312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153855	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62155809	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6542881	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6711073	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6713608	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6715321	0.85[EUR][1000 genomes]
rs6720885	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6737560	0.87[EUR][1000 genomes]
rs6761390	0.85[EUR][1000 genomes]
rs717454	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7558062	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7558074	0.80[ASN][1000 genomes]
rs7560996	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7561079	0.86[ASN][1000 genomes]
rs7563455	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7563462	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7564587	0.87[EUR][1000 genomes]
rs7572779	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7574135	0.84[ASN][1000 genomes]
rs7579403	0.82[ASN][1000 genomes]
rs7585019	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7585721	0.80[ASN][1000 genomes]
rs7586892	0.86[ASN][1000 genomes]
rs7587419	0.86[ASN][1000 genomes]
rs7589365	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7591212	0.80[ASN][1000 genomes]
rs7593274	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7597045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7597141	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7601470	0.80[ASN][1000 genomes]
rs7601730	0.82[ASN][1000 genomes]
rs7602923	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606977	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs769105	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896248	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896249	0.80[AMR][1000 genomes];0.87[EUR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7584127	LYG1	cis	Skin Sun Exposed Lower leg	GTEx
rs7584127	REV1	Cis_1M	lymphoblastoid	RTeQTL
rs7584127	LYG1	cis	Nerve Tibial	GTEx
rs7584127	LYG1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99956200-100004800	Weak transcription	Fetal Heart	heart
2	chr2:99975400-100006400	Weak transcription	Stomach Mucosa	stomach
3	chr2:99976200-100003800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:99976200-100004400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:99976400-100003200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:99976600-100002400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:99976600-100004800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:99977000-100003200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:99977000-100003200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:99977000-100003600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:99977000-100003800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:99977000-100003800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:99977600-100002200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:99977600-100003600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:99978200-100011800	Weak transcription	Esophagus	oesophagus
16	chr2:99979400-100003600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:99979400-100004200	Strong transcription	Fetal Thymus	thymus
18	chr2:99979600-100002800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:99979600-100003200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:99979600-100009600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:99979800-100002200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:99979800-100002800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:99983200-100013600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:99985600-100006800	Weak transcription	Colonic Mucosa	Colon
25	chr2:99988000-100003200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:99989000-100003200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:99990000-100006600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:99990000-100012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:99990200-100010800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:99990600-100006600	Weak transcription	Pancreas	Pancrea
31	chr2:99990600-100010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:99990600-100010800	Weak transcription	Spleen	Spleen
33	chr2:99990800-100004600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:99990800-100007000	Weak transcription	Gastric	stomach
35	chr2:99991200-100003600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:99991400-100002400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:99991400-100002400	Strong transcription	Primary T cells from cord blood	blood
38	chr2:99991400-100003200	Strong transcription	Dnd41	blood
39	chr2:99992000-100003000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:99992200-100003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:99993200-100002800	Weak transcription	Lung	lung
42	chr2:99993200-100006600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:99994200-100003000	Weak transcription	Fetal Stomach	stomach
44	chr2:99994200-100010000	Weak transcription	Brain Substantia Nigra	brain
45	chr2:99994200-100010800	Weak transcription	Fetal Brain Male	brain
46	chr2:99994200-100011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:99995400-100003000	Strong transcription	A549	lung
48	chr2:99996600-100009400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:99996800-100010000	Weak transcription	Small Intestine	intestine
50	chr2:99997200-100003000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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