Variant report

Variant	rs1906676
Chromosome Location	chr4:56415344-56415345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56414679..56416401-chr4:56437993..56440947,2	K562	blood:
2	chr4:56415018..56417689-chr4:56438366..56440978,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10012559	0.85[EUR][1000 genomes]
rs10034170	0.84[EUR][1000 genomes]
rs1021306	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1021307	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10462033	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10866424	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11240	0.82[EUR][1000 genomes]
rs11732481	0.83[EUR][1000 genomes]
rs12505265	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12509047	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13133077	0.83[EUR][1000 genomes]
rs13134079	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1522109	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1546004	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17722870	0.83[EUR][1000 genomes]
rs17722979	0.85[EUR][1000 genomes]
rs17779627	0.85[EUR][1000 genomes]
rs1967078	0.85[EUR][1000 genomes]
rs1979604	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1979605	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2070062	0.85[EUR][1000 genomes]
rs2101476	0.82[EUR][1000 genomes]
rs2130038	0.83[EUR][1000 genomes]
rs2130040	0.86[EUR][1000 genomes]
rs2412658	0.83[EUR][1000 genomes]
rs2412659	0.83[EUR][1000 genomes]
rs2412661	0.83[EUR][1000 genomes]
rs3805156	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4336288	0.83[EUR][1000 genomes]
rs4865006	0.86[EUR][1000 genomes]
rs4865012	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4865014	0.86[EUR][1000 genomes]
rs55729020	0.86[EUR][1000 genomes]
rs55885973	0.85[EUR][1000 genomes]
rs56056791	0.81[EUR][1000 genomes]
rs56152424	0.83[EUR][1000 genomes]
rs56196624	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs57338268	0.85[EUR][1000 genomes]
rs58476959	0.85[EUR][1000 genomes]
rs62303711	0.82[EUR][1000 genomes]
rs62303712	0.82[EUR][1000 genomes]
rs62303713	0.82[EUR][1000 genomes]
rs62303718	0.83[EUR][1000 genomes]
rs62303722	0.85[EUR][1000 genomes]
rs62303726	0.85[EUR][1000 genomes]
rs62303728	0.86[EUR][1000 genomes]
rs62303730	0.85[EUR][1000 genomes]
rs62303731	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62303732	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62305264	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62305265	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62305266	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62305267	0.86[EUR][1000 genomes]
rs62305268	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62305270	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62305271	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62309729	0.87[EUR][1000 genomes]
rs62309758	0.81[EUR][1000 genomes]
rs62310862	0.83[EUR][1000 genomes]
rs62310866	0.83[EUR][1000 genomes]
rs6554282	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6554283	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6554284	0.83[EUR][1000 genomes]
rs6554285	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6554287	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6554290	0.85[EUR][1000 genomes]
rs6554291	0.85[EUR][1000 genomes]
rs67963898	0.83[EUR][1000 genomes]
rs6822553	0.84[EUR][1000 genomes]
rs6830728	0.83[EUR][1000 genomes]
rs6846764	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6848755	0.83[EUR][1000 genomes]
rs6851971	0.86[EUR][1000 genomes]
rs6853506	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6856004	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs716806	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73236153	0.83[EUR][1000 genomes]
rs7659095	0.87[EUR][1000 genomes]
rs7660668	0.88[EUR][1000 genomes]
rs7665286	0.83[EUR][1000 genomes]
rs7665846	0.83[EUR][1000 genomes]
rs7676245	0.82[EUR][1000 genomes]
rs7681414	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7683997	0.83[EUR][1000 genomes]
rs7697067	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7698022	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs972446	0.85[EUR][1000 genomes]
rs9993599	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56414000-56415600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:56414000-56416800	Enhancers	Fetal Intestine Small	intestine
3	chr4:56414000-56419200	Weak transcription	Adipose Nuclei	Adipose
4	chr4:56414000-56419200	Weak transcription	Right Atrium	heart
5	chr4:56414000-56419400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:56414200-56415800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:56414200-56415800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:56414200-56415800	Enhancers	Fetal Intestine Large	intestine
9	chr4:56414200-56417600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:56414200-56417600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:56414200-56420400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:56414400-56416200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:56414400-56416200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:56414400-56416200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:56414400-56416800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:56414400-56417200	Enhancers	HMEC	breast
17	chr4:56414400-56417600	Enhancers	NHEK	skin
18	chr4:56414400-56418800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:56414400-56419000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:56414400-56419200	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:56414400-56419200	Weak transcription	GM12878-XiMat	blood
22	chr4:56414600-56415600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:56414600-56415600	Weak transcription	HSMM	muscle
24	chr4:56414600-56415600	Weak transcription	NH-A	brain
25	chr4:56414600-56415800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:56414600-56415800	Weak transcription	Hela-S3	cervix
27	chr4:56414600-56416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:56414600-56416600	Enhancers	NHLF	lung
29	chr4:56414600-56416800	Enhancers	NHDF-Ad	bronchial
30	chr4:56414600-56416800	Enhancers	Osteobl	bone
31	chr4:56414600-56418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:56414600-56419200	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:56414600-56419800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:56414800-56415600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:56414800-56415800	Weak transcription	K562	blood
36	chr4:56414800-56419000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:56414800-56419600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:56414800-56419600	Weak transcription	Fetal Lung	lung
39	chr4:56414800-56419800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:56414800-56419800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:56414800-56420000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:56414800-56420000	Weak transcription	Fetal Brain Female	brain
43	chr4:56415000-56419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:56415000-56419600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:56415000-56419600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:56415000-56419800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:56415000-56419800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:56415000-56419800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:56415200-56415600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:56415200-56415800	Enhancers	Muscle Satellite Cultured Cells	--

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