Variant report

Variant	rs72905714
Chromosome Location	chr6:80343255-80343256
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	chr6:80342661..80344192-chr6:80362741..80364592,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2812717	1.00[AFR][1000 genomes]
rs72905720	0.97[EUR][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80340200-80344400	Active TSS	Brain Angular Gyrus	brain
2	chr6:80340400-80343600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr6:80340600-80343600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr6:80340600-80343800	Active TSS	Brain Anterior Caudate	brain
5	chr6:80340600-80344200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:80341600-80343400	Active TSS	Fetal Stomach	stomach
7	chr6:80341600-80344200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:80341600-80344400	Weak transcription	Aorta	Aorta
9	chr6:80341600-80344400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:80341800-80344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:80341800-80344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:80341800-80344400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:80341800-80344400	Weak transcription	Ovary	ovary
14	chr6:80341800-80344600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:80341800-80344600	Weak transcription	Left Ventricle	heart
16	chr6:80341800-80344600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:80341800-80349800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:80341800-80349800	Weak transcription	Lung	lung
19	chr6:80341800-80350200	Weak transcription	Gastric	stomach
20	chr6:80341800-80357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:80341800-80358600	Weak transcription	HSMM	muscle
22	chr6:80342000-80343800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:80342000-80344400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:80342000-80344600	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:80342000-80356000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:80342200-80343800	Weak transcription	NHEK	skin
27	chr6:80342200-80344600	Weak transcription	NH-A	brain
28	chr6:80342400-80344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:80342400-80344400	Enhancers	HUVEC	blood vessel
30	chr6:80342400-80344600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:80342600-80344400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:80342600-80344600	Weak transcription	Adipose Nuclei	Adipose
33	chr6:80342600-80344600	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:80342600-80345000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:80342600-80345000	Enhancers	Fetal Intestine Small	intestine
36	chr6:80342800-80343400	Weak transcription	Stomach Mucosa	stomach
37	chr6:80342800-80343600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:80342800-80343800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:80342800-80344000	Enhancers	HepG2	liver
40	chr6:80342800-80344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:80342800-80344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:80342800-80344400	Weak transcription	Fetal Lung	lung
43	chr6:80342800-80344600	Weak transcription	Esophagus	oesophagus
44	chr6:80342800-80344600	Weak transcription	Fetal Kidney	kidney
45	chr6:80342800-80345000	Enhancers	Fetal Brain Male	brain
46	chr6:80342800-80350200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:80342800-80358600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:80343000-80343800	Weak transcription	Fetal Intestine Large	intestine
49	chr6:80343000-80344000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:80343000-80344200	Weak transcription	Psoas Muscle	Psoas

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