Variant report

Variant	rs6848998
Chromosome Location	chr4:128989327-128989328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128981378..128983346-chr4:128988931..128991317,2	MCF-7	breast:
2	chr4:128980866..128984600-chr4:128984636..128991176,13	K562	blood:
3	chr4:128986963..128989911-chr4:129006823..129010664,3	K562	blood:

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10001048	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1001503	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10019554	0.83[EUR][1000 genomes]
rs10019840	0.84[EUR][1000 genomes]
rs10518529	0.81[EUR][1000 genomes]
rs1064205	0.91[EUR][1000 genomes]
rs10857127	0.86[EUR][1000 genomes]
rs10857128	0.91[EUR][1000 genomes]
rs10857129	0.88[EUR][1000 genomes]
rs11098946	0.91[EUR][1000 genomes]
rs11098947	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098950	0.91[EUR][1000 genomes]
rs11723915	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11727049	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11728245	0.81[EUR][1000 genomes]
rs11732074	0.81[EUR][1000 genomes]
rs11737508	0.89[EUR][1000 genomes]
rs12505717	0.89[EUR][1000 genomes]
rs12506549	0.91[EUR][1000 genomes]
rs12507742	0.90[EUR][1000 genomes]
rs12508837	0.89[EUR][1000 genomes]
rs12509092	0.88[EUR][1000 genomes]
rs12641548	0.93[EUR][1000 genomes]
rs12645291	0.84[EUR][1000 genomes]
rs12645636	0.83[ASN][1000 genomes]
rs12648962	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12649864	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13102049	0.91[EUR][1000 genomes]
rs13136665	0.82[EUR][1000 genomes]
rs13138581	0.80[EUR][1000 genomes]
rs13139182	0.81[EUR][1000 genomes]
rs13139685	0.93[EUR][1000 genomes]
rs1545711	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16997980	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs16997982	0.85[EUR][1000 genomes]
rs1870686	0.90[EUR][1000 genomes]
rs1908450	0.82[EUR][1000 genomes]
rs1908451	0.82[EUR][1000 genomes]
rs1961274	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1975878	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975879	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1993722	0.92[EUR][1000 genomes]
rs1993723	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2056470	0.82[EUR][1000 genomes]
rs2061570	0.81[EUR][1000 genomes]
rs2061571	0.84[EUR][1000 genomes]
rs2061572	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2085843	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087446	0.82[ASN][1000 genomes]
rs2100798	0.85[EUR][1000 genomes]
rs2100799	0.93[EUR][1000 genomes]
rs2126112	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306054	0.91[EUR][1000 genomes]
rs2306055	0.89[EUR][1000 genomes]
rs2391231	0.84[EUR][1000 genomes]
rs34350456	0.93[EUR][1000 genomes]
rs34475529	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34658734	0.81[EUR][1000 genomes]
rs34659062	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34800130	0.84[EUR][1000 genomes]
rs34823354	0.89[EUR][1000 genomes]
rs34834481	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35619904	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35636574	0.90[EUR][1000 genomes]
rs3733320	0.89[EUR][1000 genomes]
rs4493552	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4527494	0.89[EUR][1000 genomes]
rs4576015	0.88[EUR][1000 genomes]
rs4833394	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4833395	0.91[EUR][1000 genomes]
rs4834223	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4834224	0.80[EUR][1000 genomes]
rs4834225	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4834226	0.93[EUR][1000 genomes]
rs4834228	0.93[EUR][1000 genomes]
rs4834229	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4834230	0.91[EUR][1000 genomes]
rs4834231	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4834233	0.90[EUR][1000 genomes]
rs4834234	0.86[EUR][1000 genomes]
rs57137613	0.90[EUR][1000 genomes]
rs59944017	0.84[EUR][1000 genomes]
rs62335637	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62335638	0.93[EUR][1000 genomes]
rs62335645	0.89[EUR][1000 genomes]
rs6534655	0.85[ASN][1000 genomes]
rs6534659	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6534660	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6534661	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6534662	0.91[EUR][1000 genomes]
rs6534663	0.85[EUR][1000 genomes]
rs6534664	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6534665	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6534666	0.89[EUR][1000 genomes]
rs6811718	0.84[EUR][1000 genomes]
rs6815163	0.86[EUR][1000 genomes]
rs6815890	0.86[EUR][1000 genomes]
rs6820515	0.86[EUR][1000 genomes]
rs6820831	0.85[EUR][1000 genomes]
rs6827422	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834263	0.85[EUR][1000 genomes]
rs6839370	0.91[EUR][1000 genomes]
rs6842281	0.84[EUR][1000 genomes]
rs6851796	0.90[EUR][1000 genomes]
rs6851896	0.81[EUR][1000 genomes]
rs7661888	0.88[EUR][1000 genomes]
rs7671131	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7671235	0.91[EUR][1000 genomes]
rs7671641	0.90[EUR][1000 genomes]
rs7684955	0.91[EUR][1000 genomes]
rs7686130	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7691540	0.82[EUR][1000 genomes]
rs7691566	0.91[EUR][1000 genomes]
rs7692797	0.91[EUR][1000 genomes]
rs7696130	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	esv3385008	chr4:128959396-128991050	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	esv1836174	chr4:128981336-128995640	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	esv1837247	chr4:128981336-128995640	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
19	esv1829517	chr4:128982085-129012638	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
20	esv1831536	chr4:128982085-129012638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
21	nsv595392	chr4:128982085-129012638	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription 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	22 gene(s)	inside rSNPs	diseases
22	nsv595393	chr4:128982137-129012638	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
23	esv1840969	chr4:128982254-129012181	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
24	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
25	nsv966317	chr4:128988788-128991118	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-128990200	Weak transcription	Gastric	stomach
2	chr4:128983800-128996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:128983800-128996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:128983800-128996600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:128983800-129027600	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
7	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
8	chr4:128984000-128990400	Weak transcription	Left Ventricle	heart
9	chr4:128984000-128999000	Weak transcription	Osteobl	bone
10	chr4:128984200-128996200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:128984200-128997600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:128984200-128998800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:128984200-129000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:128984200-129003200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:128984200-129003200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:128984200-129003200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:128984200-129018800	Weak transcription	A549	lung
18	chr4:128984200-129024800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:128984200-129029000	Weak transcription	Brain Anterior Caudate	brain
20	chr4:128984200-129035200	Weak transcription	NHLF	lung
21	chr4:128984400-128990200	Weak transcription	Fetal Stomach	stomach
22	chr4:128984400-128990400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:128984400-128996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:128984400-128996200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:128984400-128996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:128984400-128996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:128984400-128996200	Weak transcription	Right Ventricle	heart
28	chr4:128984400-128996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:128984400-128996400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:128984400-128996400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:128984400-128996400	Weak transcription	Adipose Nuclei	Adipose
35	chr4:128984400-128996400	Weak transcription	Fetal Lung	lung
36	chr4:128984400-128996600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:128984400-128996600	Weak transcription	HUVEC	blood vessel
38	chr4:128984400-128996800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:128984400-128997400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:128984400-128997600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:128984400-128998000	Weak transcription	Colonic Mucosa	Colon
42	chr4:128984400-128999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:128984400-128999000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:128984400-128999800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:128984400-129001600	Weak transcription	GM12878-XiMat	blood
46	chr4:128984400-129003200	Weak transcription	Primary B cells from cord blood	blood
47	chr4:128984400-129003200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:128984400-129012600	Weak transcription	Lung	lung
49	chr4:128984400-129013800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:128984400-129013800	Weak transcription	NHEK	skin

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