Variant report

Variant	rs72677896
Chromosome Location	chr4:129373970-129373971
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	chr4:129372062..129374901-chr4:129473797..129476427,2	MCF-7	breast:
2	chr4:129242750..129245400-chr4:129372487..129374943,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273077	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12499030	0.85[ASN][1000 genomes]
rs12511843	0.85[ASN][1000 genomes]
rs12648490	0.85[ASN][1000 genomes]
rs17013269	0.85[ASN][1000 genomes]
rs2133465	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4305531	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4306967	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56212199	0.85[ASN][1000 genomes]
rs58020409	0.83[ASN][1000 genomes]
rs59296747	0.85[ASN][1000 genomes]
rs59363695	0.85[ASN][1000 genomes]
rs72677867	0.85[ASN][1000 genomes]
rs72677868	0.83[ASN][1000 genomes]
rs72677873	0.85[ASN][1000 genomes]
rs72677874	0.85[ASN][1000 genomes]
rs72677876	0.85[ASN][1000 genomes]
rs72677877	0.85[ASN][1000 genomes]
rs72677891	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72677893	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72677894	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72677900	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7691529	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129367200-129375400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:129367200-129376200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:129368800-129376200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:129370000-129378800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:129370400-129375600	Enhancers	NHDF-Ad	bronchial
6	chr4:129370800-129375200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:129371200-129374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:129371400-129375400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:129372000-129375000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:129372200-129375400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:129372600-129374000	Enhancers	HMEC	breast
12	chr4:129372600-129375600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:129372800-129375000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:129372800-129375200	Weak transcription	NHEK	skin
15	chr4:129372800-129375600	Weak transcription	Left Ventricle	heart
16	chr4:129372800-129376200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:129373000-129375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:129373000-129375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:129373400-129375400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:129373400-129377000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:129373400-129377200	Enhancers	Fetal Heart	heart
22	chr4:129373600-129374000	Enhancers	Adipose Nuclei	Adipose
23	chr4:129373600-129374000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr4:129373600-129374000	Enhancers	GM12878-XiMat	blood
25	chr4:129373600-129374000	Flanking Active TSS	Osteobl	bone
26	chr4:129373600-129374400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:129373600-129374400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:129373600-129374400	Enhancers	Fetal Muscle Leg	muscle
29	chr4:129373600-129374400	Enhancers	Ovary	ovary
30	chr4:129373600-129374400	Enhancers	Psoas Muscle	Psoas
31	chr4:129373600-129375600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:129373600-129375600	Enhancers	HSMMtube	muscle
33	chr4:129373600-129376800	Enhancers	NHLF	lung
34	chr4:129373800-129374000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:129373800-129374000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:129373800-129374200	Flanking Active TSS	A549	lung
37	chr4:129373800-129375600	Enhancers	HSMM	muscle

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