Variant report

Variant	rs7689324
Chromosome Location	chr4:6989621-6989622
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6987851..6990703-chr4:7053695..7056080,2	MCF-7	breast:
2	chr4:6909306..6913096-chr4:6986692..6990153,8	K562	blood:
3	chr4:6716379..6718231-chr4:6987707..6990478,2	K562	blood:
4	chr4:6989598..6991738-chr4:7007469..7010160,2	K562	blood:
5	chr4:6783058..6785294-chr4:6987568..6991326,3	MCF-7	breast:
6	chr4:6981814..6984780-chr4:6988944..6991170,2	MCF-7	breast:
7	chr4:6988801..6990522-chr4:7000909..7003794,2	MCF-7	breast:
8	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
9	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
10	chr4:6715191..6718231-chr4:6987509..6990478,3	K562	blood:
11	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
12	chr4:6989121..6990738-chr4:7030728..7033595,2	MCF-7	breast:
13	chr4:6988789..6991540-chr4:7069432..7071324,2	MCF-7	breast:
14	chr4:6909508..6912885-chr4:6987339..6990016,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186222	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10937773	0.88[AFR][1000 genomes]
rs10937775	1.00[AMR][1000 genomes]
rs13143427	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35375288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234791	0.90[YRI][hapmap]
rs4234792	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327487	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4376137	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4423873	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4544710	0.81[YRI][hapmap]
rs4689058	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs6446554	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs6446555	0.88[AFR][1000 genomes]
rs6446558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835187	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs6835407	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835568	0.95[AFR][1000 genomes]
rs7655773	0.91[YRI][hapmap]
rs7661952	0.93[YRI][hapmap]
rs7675524	1.00[YRI][hapmap]
rs9291126	0.86[YRI][hapmap]

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	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6987000-6989800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:6987200-6989800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:6987600-6989800	Active TSS	Aorta	Aorta
4	chr4:6987600-6989800	Active TSS	Psoas Muscle	Psoas
5	chr4:6987600-6989800	Active TSS	Right Atrium	heart
6	chr4:6987600-6990000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:6987600-6990000	Active TSS	Right Ventricle	heart
8	chr4:6987800-6989800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:6987800-6990000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:6987800-6990000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:6987800-6990000	Active TSS	Ovary	ovary
12	chr4:6988000-6989800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:6988000-6989800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:6988000-6989800	Active TSS	Left Ventricle	heart
15	chr4:6988000-6990000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr4:6988000-6990000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:6988000-6990000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:6988000-6990200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr4:6988000-6990400	Active TSS	A549	lung
20	chr4:6988200-6989800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:6988200-6989800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:6988200-6989800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:6988200-6989800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr4:6988200-6989800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr4:6988200-6989800	Active TSS	Fetal Brain Female	brain
26	chr4:6988200-6989800	Active TSS	Fetal Kidney	kidney
27	chr4:6988200-6990000	Active TSS	GM12878-XiMat	blood
28	chr4:6988200-6990000	Active TSS	NHDF-Ad	bronchial
29	chr4:6988200-6990200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:6988200-6990200	Active TSS	Esophagus	oesophagus
31	chr4:6988200-6990200	Active TSS	NHLF	lung
32	chr4:6988200-6990400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:6988400-6989800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr4:6988400-6989800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:6988400-6989800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:6988400-6989800	Active TSS	Fetal Brain Male	brain
37	chr4:6988400-6990000	Active TSS	HMEC	breast
38	chr4:6988600-6989800	Active TSS	Fetal Muscle Trunk	muscle
39	chr4:6988600-6989800	Active TSS	HSMM	muscle
40	chr4:6989000-6989800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr4:6989000-6990000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr4:6989000-6990200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:6989000-6990400	Flanking Active TSS	Colonic Mucosa	Colon
44	chr4:6989000-6990600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:6989000-6990600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr4:6989200-6989800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr4:6989200-6989800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr4:6989200-6989800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:6989200-6989800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr4:6989200-6989800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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