Variant report

Variant	rs3098240
Chromosome Location	chr8:104429824-104429825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:104429735-104429917	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104309692..104312544-chr8:104429452..104431567,3	MCF-7	breast:
2	chr8:104426168..104429025-chr8:104429349..104431028,2	K562	blood:
3	chr8:104427653..104431566-chr8:104442876..104445476,3	K562	blood:
4	chr8:104428226..104429911-chr8:104523222..104524939,2	MCF-7	breast:
5	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC25A32	TF binding region
ENSG00000164932	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1061195	0.85[ASN][1000 genomes]
rs1095723	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1095725	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11780843	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12677876	0.87[ASN][1000 genomes]
rs1370005	0.88[ASN][1000 genomes]
rs1370006	0.90[ASN][1000 genomes]
rs1436595	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1436597	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1436598	0.84[ASN][1000 genomes]
rs1436599	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16870396	0.89[ASN][1000 genomes]
rs1865853	0.84[ASN][1000 genomes]
rs1865854	0.84[ASN][1000 genomes]
rs2082971	0.85[ASN][1000 genomes]
rs2118057	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2241777	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2241778	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2304501	0.88[ASN][1000 genomes]
rs2388720	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2437762	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2575691	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2575693	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2575694	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2575697	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2575699	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2687348	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2687359	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2687363	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2687364	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2948446	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3098212	0.84[ASN][1000 genomes]
rs3098214	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3098215	0.88[ASN][1000 genomes]
rs3098217	0.87[ASN][1000 genomes]
rs3098218	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3098219	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098220	0.88[ASN][1000 genomes]
rs3098221	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3098222	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098223	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098224	0.88[ASN][1000 genomes]
rs3098225	0.88[ASN][1000 genomes]
rs3098227	0.90[ASN][1000 genomes]
rs3098233	0.80[ASN][1000 genomes]
rs3098236	0.90[ASN][1000 genomes]
rs3098237	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098241	0.90[ASN][1000 genomes]
rs3098242	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098244	0.90[ASN][1000 genomes]
rs3098245	0.90[ASN][1000 genomes]
rs3098248	0.81[ASN][1000 genomes]
rs3098249	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3098250	0.85[ASN][1000 genomes]
rs3098255	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3098256	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3098257	0.84[ASN][1000 genomes]
rs3098258	0.84[ASN][1000 genomes]
rs3098259	0.85[ASN][1000 genomes]
rs3098260	0.84[ASN][1000 genomes]
rs3133804	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3133807	0.84[ASN][1000 genomes]
rs3133809	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133811	0.87[ASN][1000 genomes]
rs3133813	0.90[ASN][1000 genomes]
rs3133814	0.91[ASN][1000 genomes]
rs3133815	0.91[ASN][1000 genomes]
rs3133816	0.91[ASN][1000 genomes]
rs3133817	0.91[ASN][1000 genomes]
rs3133819	0.87[ASN][1000 genomes]
rs3134250	0.88[ASN][1000 genomes]
rs3134251	0.84[ASN][1000 genomes]
rs3134253	0.89[ASN][1000 genomes]
rs3134254	0.89[ASN][1000 genomes]
rs3134255	0.89[ASN][1000 genomes]
rs3134258	0.90[ASN][1000 genomes]
rs3134261	0.90[ASN][1000 genomes]
rs3134262	0.90[ASN][1000 genomes]
rs3134264	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3134265	0.90[ASN][1000 genomes]
rs3134266	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134267	0.88[ASN][1000 genomes]
rs3134270	0.88[ASN][1000 genomes]
rs3134271	0.88[ASN][1000 genomes]
rs3134272	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134273	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134275	0.87[ASN][1000 genomes]
rs3134277	0.86[ASN][1000 genomes]
rs3134278	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134279	0.90[ASN][1000 genomes]
rs3134280	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3134281	0.84[ASN][1000 genomes]
rs3134282	0.84[ASN][1000 genomes]
rs3134285	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134286	0.90[ASN][1000 genomes]
rs3134287	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134289	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134290	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134291	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134292	0.91[ASN][1000 genomes]
rs3134293	0.90[ASN][1000 genomes]
rs3134295	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134296	0.90[ASN][1000 genomes]
rs3134297	0.91[ASN][1000 genomes]
rs4734699	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4734700	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7465574	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs750606	0.90[ASN][1000 genomes]
rs7816297	0.88[ASN][1000 genomes]
rs827595	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs844138	0.84[EUR][1000 genomes]
rs893044	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs975440	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104428200-104462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:104428200-104464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:104428400-104430200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:104428800-104430400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:104428800-104431400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:104428800-104433600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:104428800-104433600	Weak transcription	Placenta	Placenta
8	chr8:104428800-104433800	Weak transcription	Aorta	Aorta
9	chr8:104428800-104457400	Weak transcription	Stomach Mucosa	stomach
10	chr8:104428800-104460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:104429000-104430000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:104429000-104430000	Weak transcription	Ovary	ovary
13	chr8:104429000-104430400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:104429000-104431400	Weak transcription	Small Intestine	intestine
15	chr8:104429000-104432400	Weak transcription	Fetal Brain Male	brain
16	chr8:104429000-104432600	Weak transcription	Fetal Thymus	thymus
17	chr8:104429000-104433000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:104429000-104433000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:104429000-104433000	Weak transcription	Psoas Muscle	Psoas
20	chr8:104429000-104433000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:104429000-104433600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:104429000-104433600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:104429000-104433600	Weak transcription	Fetal Intestine Large	intestine
24	chr8:104429000-104433600	Weak transcription	Left Ventricle	heart
25	chr8:104429000-104433600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:104429000-104433800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:104429000-104434000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:104429000-104434000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:104429000-104434200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:104429000-104434400	Weak transcription	Spleen	Spleen
31	chr8:104429000-104436800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:104429000-104439600	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:104429000-104439600	Weak transcription	Brain Substantia Nigra	brain
34	chr8:104429000-104439600	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:104429000-104439600	Weak transcription	Lung	lung
36	chr8:104429000-104439800	Weak transcription	Brain Anterior Caudate	brain
37	chr8:104429000-104440200	Weak transcription	Brain Germinal Matrix	brain
38	chr8:104429000-104440200	Weak transcription	HSMMtube	muscle
39	chr8:104429000-104440400	Weak transcription	Esophagus	oesophagus
40	chr8:104429000-104443400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:104429000-104447800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:104429000-104450800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:104429000-104453200	Weak transcription	Colonic Mucosa	Colon
44	chr8:104429000-104453400	Weak transcription	Right Ventricle	heart
45	chr8:104429000-104456600	Weak transcription	Thymus	Thymus
46	chr8:104429000-104457800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:104429000-104458600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:104429000-104459000	Weak transcription	Brain Angular Gyrus	brain
49	chr8:104429000-104459000	Weak transcription	Gastric	stomach
50	chr8:104429000-104461400	Weak transcription	Placenta Amnion	Placenta Amnion

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