Variant report

Variant	rs73155685
Chromosome Location	chr4:56419718-56419719
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56367962..56369709-chr4:56418352..56420370,2	K562	blood:
2	chr4:56410487..56414437-chr4:56418124..56420516,3	MCF-7	breast:
3	chr4:56417353..56420509-chr4:56422017..56425975,3	K562	blood:
4	chr4:56410648..56414304-chr4:56416638..56420885,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17086003	1.00[AMR][1000 genomes]
rs58940536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59669272	1.00[AMR][1000 genomes]
rs60542719	1.00[AMR][1000 genomes]
rs60853762	1.00[AMR][1000 genomes]
rs61510143	1.00[AMR][1000 genomes]
rs73148756	1.00[AMR][1000 genomes]
rs73148758	1.00[AMR][1000 genomes]
rs73148767	1.00[AMR][1000 genomes]
rs73149883	1.00[AMR][1000 genomes]
rs73150945	1.00[AMR][1000 genomes]
rs73150972	1.00[AMR][1000 genomes]
rs73152832	1.00[AMR][1000 genomes]
rs73153608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73155667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73155678	1.00[AMR][1000 genomes]
rs73155690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73155699	1.00[AMR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56414200-56420400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:56414600-56419800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:56414800-56419800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:56414800-56419800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:56414800-56420000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:56414800-56420000	Weak transcription	Fetal Brain Female	brain
7	chr4:56415000-56419800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:56415000-56419800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:56415000-56419800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:56416400-56420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:56416800-56420600	Weak transcription	Fetal Intestine Large	intestine
12	chr4:56416800-56425600	Weak transcription	K562	blood
13	chr4:56417600-56420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:56417600-56420000	Weak transcription	NHEK	skin
15	chr4:56418800-56431800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:56419000-56419800	Active TSS	Duodenum Mucosa	Duodenum
17	chr4:56419200-56419800	Active TSS	Rectal Smooth Muscle	rectum
18	chr4:56419200-56419800	Active TSS	GM12878-XiMat	blood
19	chr4:56419200-56420000	Active TSS	Right Atrium	heart
20	chr4:56419200-56420000	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:56419200-56420000	Active TSS	NHLF	lung
22	chr4:56419200-56420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr4:56419200-56420400	Active TSS	Ovary	ovary
24	chr4:56419200-56420400	Flanking Active TSS	Osteobl	bone
25	chr4:56419200-56420800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:56419400-56419800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:56419400-56419800	Active TSS	Adipose Nuclei	Adipose
28	chr4:56419400-56419800	Active TSS	HepG2	liver
29	chr4:56419400-56420000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:56419400-56420000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:56419400-56420000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:56419400-56420000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:56419400-56420000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:56419400-56420000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:56419400-56420000	Active TSS	Liver	Liver
36	chr4:56419400-56420000	Active TSS	Brain Anterior Caudate	brain
37	chr4:56419400-56420000	Active TSS	Colon Smooth Muscle	Colon
38	chr4:56419400-56420000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr4:56419400-56420000	Active TSS	Fetal Stomach	stomach
40	chr4:56419400-56420000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr4:56419400-56420000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:56419400-56420000	Active TSS	HSMM	muscle
43	chr4:56419400-56420200	Active TSS	Primary T cells fromperipheralblood	blood
44	chr4:56419400-56420200	Active TSS	Aorta	Aorta
45	chr4:56419400-56420200	Active TSS	Brain Cingulate Gyrus	brain
46	chr4:56419400-56420200	Active TSS	Brain Hippocampus Middle	brain
47	chr4:56419400-56420200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr4:56419400-56420200	Active TSS	Fetal Muscle Trunk	muscle
49	chr4:56419400-56420200	Active TSS	Fetal Muscle Leg	muscle
50	chr4:56419400-56420200	Active TSS	Rectal Mucosa Donor 29	rectum

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