Variant report

Variant	rs4713988
Chromosome Location	chr6:36602506-36602507
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36600535..36602963-chr6:36638081..36640016,2	MCF-7	breast:
2	chr6:36561858..36565797-chr6:36601247..36605469,3	K562	blood:
3	chr6:36591755..36593263-chr6:36601284..36603461,2	MCF-7	breast:
4	chr6:36598994..36606227-chr6:36643995..36648555,17	MCF-7	breast:
5	chr6:36601808..36603429-chr6:36645525..36647356,2	K562	blood:
6	chr6:36589954..36591694-chr6:36600898..36603288,2	K562	blood:
7	chr6:36602002..36604022-chr6:36629125..36630980,2	MCF-7	breast:
8	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000263894	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10214849	0.91[EUR][1000 genomes]
rs10223366	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10947613	0.90[EUR][1000 genomes]
rs1406945	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713987	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60627328	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs671516	0.90[EUR][1000 genomes]
rs6937430	0.91[EUR][1000 genomes]
rs73410251	0.90[EUR][1000 genomes]
rs7755461	0.89[EUR][1000 genomes]
rs7759546	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7771547	0.83[EUR][1000 genomes]
rs9296192	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9366911	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368942	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36581400-36604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:36582800-36610800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:36597000-36603000	Enhancers	Fetal Muscle Leg	muscle
4	chr6:36599600-36604400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:36599800-36604600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:36599800-36604600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:36600000-36605200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:36601000-36603400	Enhancers	Stomach Mucosa	stomach
9	chr6:36601000-36605800	Enhancers	Fetal Muscle Trunk	muscle
10	chr6:36601200-36602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:36601200-36603000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:36601200-36603000	Enhancers	Colonic Mucosa	Colon
13	chr6:36601200-36603200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr6:36601200-36603400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:36601200-36605800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:36601400-36602600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:36601400-36602800	Enhancers	Adipose Nuclei	Adipose
18	chr6:36601400-36603000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:36601400-36603400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:36601600-36602600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:36601600-36602600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:36601600-36602800	Enhancers	Liver	Liver
23	chr6:36601600-36603600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:36601800-36602800	Enhancers	Brain Hippocampus Middle	brain
25	chr6:36601800-36603000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:36601800-36603000	Enhancers	Ovary	ovary
27	chr6:36601800-36603200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:36601800-36603400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:36601800-36603400	Enhancers	Thymus	Thymus
30	chr6:36601800-36603600	Enhancers	Fetal Thymus	thymus
31	chr6:36602000-36602600	Enhancers	Gastric	stomach
32	chr6:36602000-36602800	Bivalent Enhancer	HepG2	liver
33	chr6:36602200-36602800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:36602200-36603800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:36602200-36604400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:36602200-36604400	Weak transcription	Fetal Kidney	kidney
37	chr6:36602200-36604400	Weak transcription	Fetal Stomach	stomach
38	chr6:36602200-36604600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:36602200-36604600	Weak transcription	Brain Angular Gyrus	brain
40	chr6:36602200-36604600	Weak transcription	Brain Anterior Caudate	brain
41	chr6:36602200-36604600	Weak transcription	Brain Substantia Nigra	brain
42	chr6:36602200-36608800	Weak transcription	Fetal Intestine Large	intestine
43	chr6:36602400-36602800	Enhancers	Osteobl	bone
44	chr6:36602400-36603400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:36602400-36604200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:36602400-36604600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:36602400-36605200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:36602400-36610600	Weak transcription	Fetal Heart	heart
49	chr6:36602400-36610800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:36602400-36610800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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