Variant report

Variant	rs72685371
Chromosome Location	chr1:78452569-78452570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78450337..78453054-chr1:78453349..78455992,3	MCF-7	breast:
2	chr1:78451857..78454221-chr1:78456122..78458479,2	MCF-7	breast:
3	chr1:78441985..78444907-chr1:78452418..78454837,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJB4-1	chr1:78444779-78456066	NONHSAT004062

Variant related genes	Relation type
ENSG00000162613	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1325513	1.00[AFR][1000 genomes]
rs1408955	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2032056	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72685315	1.00[AFR][1000 genomes]
rs72685332	0.84[EUR][1000 genomes]
rs72685333	0.84[EUR][1000 genomes]
rs72685335	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72685338	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685344	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685346	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685349	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685355	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685362	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685366	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72685370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685391	0.82[AMR][1000 genomes]
rs72685398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72687103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72687112	1.00[AFR][1000 genomes]
rs72687124	1.00[AFR][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	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong 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	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv518855	chr1:78416669-78456355	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78446000-78452600	Weak transcription	Gastric	stomach
2	chr1:78446000-78455600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:78446000-78458600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:78446000-78458800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:78446000-78461000	Weak transcription	Placenta	Placenta
6	chr1:78446200-78452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:78446200-78457200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:78446200-78461200	Weak transcription	Fetal Stomach	stomach
9	chr1:78446200-78469600	Weak transcription	Thymus	Thymus
10	chr1:78446400-78458200	Weak transcription	Fetal Thymus	thymus
11	chr1:78446400-78469800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:78446400-78470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:78446600-78457200	Weak transcription	Primary T cells from cord blood	blood
14	chr1:78446600-78459200	Weak transcription	Fetal Brain Female	brain
15	chr1:78446600-78460800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:78446600-78461200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:78446600-78468000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:78446600-78468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:78446600-78468800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:78446600-78468800	Weak transcription	Adipose Nuclei	Adipose
21	chr1:78446600-78468800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:78446600-78469000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:78446600-78469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:78446600-78469000	Weak transcription	Fetal Kidney	kidney
25	chr1:78446600-78469600	Weak transcription	Aorta	Aorta
26	chr1:78446600-78469800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:78446600-78470200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:78446600-78470400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:78446800-78452600	Weak transcription	NHLF	lung
30	chr1:78446800-78452800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:78446800-78454200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:78446800-78460000	Weak transcription	Brain Germinal Matrix	brain
33	chr1:78446800-78468000	Weak transcription	Fetal Lung	lung
34	chr1:78447000-78453200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:78447000-78458600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:78447000-78458800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:78447000-78467800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:78447200-78452600	Weak transcription	Left Ventricle	heart
39	chr1:78447200-78452800	Weak transcription	Right Ventricle	heart
40	chr1:78447200-78459800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:78447200-78461000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:78447200-78463600	Weak transcription	Lung	lung
43	chr1:78447400-78455400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:78447400-78458400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:78447400-78465800	Weak transcription	Hela-S3	cervix
46	chr1:78447600-78469800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:78447600-78470200	Weak transcription	Fetal Brain Male	brain
48	chr1:78447800-78455600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:78447800-78469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:78448000-78459600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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