Variant report

Variant	rs1985960
Chromosome Location	chr4:86664195-86664196
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	chr4:86655653..86657316-chr4:86662237..86664343,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1020585	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13121496	0.89[AFR][1000 genomes]
rs2601854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2624019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2624020	0.91[AFR][1000 genomes]
rs2624022	1.00[AFR][1000 genomes]
rs343850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763373	chr4:86655128-86673695	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86655000-86664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86658800-86664600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:86658800-86665600	Weak transcription	Psoas Muscle	Psoas
4	chr4:86659400-86664200	Enhancers	NHDF-Ad	bronchial
5	chr4:86659800-86667200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:86660400-86664200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:86660400-86665200	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:86660400-86666000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:86660600-86664200	Weak transcription	HMEC	breast
11	chr4:86660600-86664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:86660800-86664200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:86661600-86667200	Enhancers	A549	lung
14	chr4:86661800-86664400	Enhancers	Brain Angular Gyrus	brain
15	chr4:86661800-86664600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:86661800-86665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:86661800-86665600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:86661800-86666400	Enhancers	HSMM	muscle
19	chr4:86662000-86666200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:86662200-86664400	Enhancers	Brain Substantia Nigra	brain
21	chr4:86662200-86664600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:86662200-86669200	Weak transcription	NH-A	brain
23	chr4:86662600-86666000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:86662800-86664800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:86663000-86664800	Weak transcription	Primary B cells from cord blood	blood
26	chr4:86663200-86667000	Weak transcription	Small Intestine	intestine
27	chr4:86663400-86664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:86663400-86664200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr4:86663400-86664200	Weak transcription	Osteobl	bone
30	chr4:86663400-86664400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:86663400-86669200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:86663400-86673200	Weak transcription	Left Ventricle	heart
33	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:86663600-86664200	Weak transcription	Adipose Nuclei	Adipose
35	chr4:86663600-86664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:86663600-86664600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:86663600-86664800	Enhancers	K562	blood
38	chr4:86663600-86665000	Weak transcription	HSMMtube	muscle
39	chr4:86663600-86665200	Enhancers	Brain Hippocampus Middle	brain
40	chr4:86663600-86665800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:86663600-86666600	Weak transcription	Right Atrium	heart
42	chr4:86663600-86667000	Weak transcription	Pancreas	Pancrea
43	chr4:86663800-86664200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:86663800-86669200	Weak transcription	Fetal Heart	heart
45	chr4:86664000-86664200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:86664000-86664200	Active TSS	NHEK	skin
47	chr4:86664000-86664400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:86664000-86664400	Enhancers	GM12878-XiMat	blood
49	chr4:86664000-86664400	Enhancers	Hela-S3	cervix
50	chr4:86664000-86665400	Enhancers	NHLF	lung

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