Variant report

Variant	rs74092342
Chromosome Location	chr1:78454905-78454906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78454678..78456390-chr1:78458151..78460490,2	MCF-7	breast:
2	chr1:78454801..78460340-chr1:78465408..78471629,5	MCF-7	breast:
3	chr1:78450337..78453054-chr1:78453349..78455992,3	MCF-7	breast:
4	chr1:78442841..78446190-chr1:78453465..78457811,8	MCF-7	breast:

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

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000162613	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17098321	1.00[EUR][1000 genomes]
rs17101286	1.00[EUR][1000 genomes]
rs17101443	1.00[EUR][1000 genomes]
rs55717739	1.00[EUR][1000 genomes]
rs56010524	1.00[EUR][1000 genomes]
rs58120905	1.00[EUR][1000 genomes]
rs60658102	1.00[EUR][1000 genomes]
rs74092304	1.00[EUR][1000 genomes]
rs74092305	1.00[EUR][1000 genomes]
rs74092316	1.00[EUR][1000 genomes]
rs74092323	1.00[EUR][1000 genomes]
rs74092325	1.00[EUR][1000 genomes]
rs74092336	1.00[EUR][1000 genomes]
rs74092337	1.00[EUR][1000 genomes]
rs74092338	1.00[EUR][1000 genomes]
rs74092352	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74092353	1.00[EUR][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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78446000-78455600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:78446000-78458600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:78446000-78458800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:78446000-78461000	Weak transcription	Placenta	Placenta
5	chr1:78446200-78457200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:78446200-78461200	Weak transcription	Fetal Stomach	stomach
7	chr1:78446200-78469600	Weak transcription	Thymus	Thymus
8	chr1:78446400-78458200	Weak transcription	Fetal Thymus	thymus
9	chr1:78446400-78469800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:78446400-78470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:78446600-78457200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:78446600-78459200	Weak transcription	Fetal Brain Female	brain
13	chr1:78446600-78460800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:78446600-78461200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:78446600-78468000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:78446600-78468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:78446600-78468800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:78446600-78468800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:78446600-78468800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:78446600-78469000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:78446600-78469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:78446600-78469000	Weak transcription	Fetal Kidney	kidney
23	chr1:78446600-78469600	Weak transcription	Aorta	Aorta
24	chr1:78446600-78469800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:78446600-78470200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:78446600-78470400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:78446800-78460000	Weak transcription	Brain Germinal Matrix	brain
28	chr1:78446800-78468000	Weak transcription	Fetal Lung	lung
29	chr1:78447000-78458600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:78447000-78458800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:78447000-78467800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:78447200-78459800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:78447200-78461000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:78447200-78463600	Weak transcription	Lung	lung
35	chr1:78447400-78455400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:78447400-78458400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:78447400-78465800	Weak transcription	Hela-S3	cervix
38	chr1:78447600-78469800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:78447600-78470200	Weak transcription	Fetal Brain Male	brain
40	chr1:78447800-78455600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:78447800-78469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:78448000-78459600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:78448000-78467800	Weak transcription	Dnd41	blood
44	chr1:78448000-78467800	Weak transcription	HUVEC	blood vessel
45	chr1:78448000-78468800	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:78448600-78455000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:78448600-78456800	Weak transcription	GM12878-XiMat	blood
48	chr1:78448600-78465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:78449800-78461000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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