Variant report

Variant	rs68063284
Chromosome Location	chr4:105982890-105982891
allele	A/T
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75976428..75978953-chr4:105982186..105984226,2	MCF-7	breast:
2	chr4:105980934..105983324-chr4:106203078..106205938,2	MCF-7	breast:
3	chr4:105980136..105985353-chr4:106046016..106051646,9	MCF-7	breast:
4	chr4:105982631..105985650-chr4:105987239..105989362,4	MCF-7	breast:
5	chr4:105976784..105986292-chr4:106044571..106052702,25	MCF-7	breast:
6	chr4:105415663..105417887-chr4:105981458..105983796,2	MCF-7	breast:
7	chr4:105975764..105988950-chr4:106062358..106070647,39	MCF-7	breast:
8	chr4:105812011..105813887-chr4:105981924..105984058,2	MCF-7	breast:
9	chr4:105890426..105894175-chr4:105979884..105983538,4	MCF-7	breast:
10	chr4:105981331..105982913-chr4:106070883..106073179,2	MCF-7	breast:
11	chr4:105982064..105984157-chr4:105988059..105990663,2	MCF-7	breast:
12	chr4:105817670..105820970-chr4:105982686..105984664,5	MCF-7	breast:
13	chr4:105982346..105984231-chr4:106059044..106061638,2	MCF-7	breast:
14	chr4:105976101..105984516-chr4:106064112..106070622,19	MCF-7	breast:
15	chr4:105982559..105986858-chr4:106036992..106040333,4	MCF-7	breast:
16	chr4:105829249..105833469-chr4:105980777..105984054,6	MCF-7	breast:
17	chr4:105982359..105982999-chr4:106047359..106048436,4	MCF-7	breast:
18	chr4:105887583..105897108-chr4:105977318..105984912,20	MCF-7	breast:
19	chr4:105981696..105984518-chr4:105989745..105992068,2	MCF-7	breast:
20	chr4:105981222..105983429-chr4:105984417..105986234,2	MCF-7	breast:
21	chr4:105982372..105984745-chr4:106040097..106042240,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248373	Chromatin interaction
ENSG00000248242	Chromatin interaction
ENSG00000251906	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000168772	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10446711	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10446712	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10454792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10640357	1.00[AFR][1000 genomes]
rs11097879	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11725310	1.00[AFR][1000 genomes]
rs11730114	1.00[AFR][1000 genomes]
rs12501298	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13151168	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17501461	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023841	1.00[AFR][1000 genomes]
rs35619458	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36046743	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67110330	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67270572	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68079510	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72664194	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830024	chr4:105884350-106037816	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:105978600-105983400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:105978600-105983400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:105978600-105983400	Enhancers	NHEK	skin
4	chr4:105978800-105983000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:105979000-105983400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:105981600-105983000	Enhancers	HSMM	muscle
7	chr4:105981800-105983000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:105981800-105983000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:105981800-105983000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:105981800-105983000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:105981800-105983000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:105981800-105983000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:105981800-105983200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:105981800-105983200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:105981800-105983400	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:105981800-105983400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:105981800-105983400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:105981800-105983400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr4:105982000-105983000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:105982000-105983000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:105982000-105983000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr4:105982000-105983200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr4:105982000-105983200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr4:105982000-105983200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:105982000-105983200	Enhancers	Adipose Nuclei	Adipose
26	chr4:105982000-105983200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:105982000-105983200	Flanking Active TSS	GM12878-XiMat	blood
28	chr4:105982000-105983200	Enhancers	Hela-S3	cervix
29	chr4:105982000-105983400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr4:105982000-105983800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr4:105982200-105983000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:105982200-105983000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr4:105982200-105983000	Enhancers	K562	blood
34	chr4:105982200-105983200	Enhancers	Stomach Mucosa	stomach
35	chr4:105982400-105983000	Enhancers	HUVEC	blood vessel
36	chr4:105982400-105983200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr4:105982400-105983400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr4:105982400-105984000	Enhancers	Fetal Lung	lung
39	chr4:105982600-105983000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr4:105982600-105983000	Enhancers	Fetal Heart	heart
41	chr4:105982600-105983200	Enhancers	Primary T cells from cord blood	blood
42	chr4:105982600-105983200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:105982800-105983000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:105982800-105983000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr4:105982800-105983000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:105982800-105983000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr4:105982800-105983000	Enhancers	HSMMtube	muscle
48	chr4:105982800-105983000	Enhancers	NH-A	brain
49	chr4:105982800-105983200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:105982800-105983200	Enhancers	Muscle Satellite Cultured Cells	--

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