Variant report

Variant	rs72876071
Chromosome Location	chr4:87864228-87864229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87862443..87864681-chr4:87929416..87931168,2	MCF-7	breast:
2	chr4:87863295..87865719-chr4:87926718..87928690,2	MCF-7	breast:
3	chr4:87864190..87869754-chr4:87925812..87929793,8	K562	blood:
4	chr4:87861846..87864713-chr4:88083470..88086069,2	K562	blood:
5	chr4:87854585..87857890-chr4:87861673..87864698,5	MCF-7	breast:
6	chr4:87821787..87824264-chr4:87863073..87865329,2	K562	blood:
7	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60957841	1.00[AFR][1000 genomes]
rs72876038	1.00[AFR][1000 genomes]
rs72876047	1.00[AFR][1000 genomes]
rs72879904	1.00[AFR][1000 genomes]
rs72879922	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87867800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:87857800-87880200	Weak transcription	HSMM	muscle
4	chr4:87858000-87867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:87858200-87866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:87858200-87869400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:87858600-87864800	Enhancers	Fetal Thymus	thymus
8	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:87858800-87864400	Enhancers	Liver	Liver
10	chr4:87859000-87864400	Enhancers	Fetal Intestine Large	intestine
11	chr4:87859200-87865600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:87861000-87864800	Enhancers	HepG2	liver
13	chr4:87861000-87878000	Weak transcription	HMEC	breast
14	chr4:87861200-87864400	Enhancers	HUVEC	blood vessel
15	chr4:87861200-87864800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:87861400-87864400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:87861400-87864800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:87861400-87865400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:87861400-87865800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:87861400-87866200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:87861400-87866200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:87861400-87867800	Weak transcription	Right Ventricle	heart
23	chr4:87861400-87868000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:87861400-87877200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:87861400-87880800	Weak transcription	Aorta	Aorta
26	chr4:87861600-87864600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:87861600-87864600	Enhancers	Hela-S3	cervix
28	chr4:87861600-87864800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:87861600-87865600	Weak transcription	Left Ventricle	heart
30	chr4:87861600-87865800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:87861600-87868000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:87861600-87868000	Weak transcription	Fetal Lung	lung
33	chr4:87861600-87868000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:87861600-87868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:87861600-87868400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:87861600-87869200	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:87861600-87870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:87861800-87866000	Weak transcription	Fetal Heart	heart
39	chr4:87861800-87866000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr4:87861800-87867800	Weak transcription	Esophagus	oesophagus
41	chr4:87861800-87868000	Weak transcription	Colonic Mucosa	Colon
42	chr4:87861800-87868200	Weak transcription	Adipose Nuclei	Adipose
43	chr4:87861800-87871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:87861800-87871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:87861800-87878000	Weak transcription	Osteobl	bone
46	chr4:87861800-87880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:87861800-87880600	Weak transcription	Fetal Kidney	kidney
48	chr4:87862000-87864600	Weak transcription	Primary B cells from cord blood	blood
49	chr4:87862000-87865800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:87862400-87865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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