Variant report

Variant	rs72955128
Chromosome Location	chr4:106070226-106070227
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56707907..56710968-chr4:106067665..106071186,3	MCF-7	breast:
2	chr4:106068073..106070756-chr4:106374614..106376801,2	MCF-7	breast:
3	chr4:106066586..106070319-chr4:106392729..106397085,7	MCF-7	breast:
4	chr4:105789109..105790890-chr4:106069609..106071424,2	MCF-7	breast:
5	chr4:105812145..105831361-chr4:106062414..106073665,101	MCF-7	breast:
6	chr4:106069706..106072401-chr4:106190053..106191894,2	K562	blood:
7	chr4:105883010..105897017-chr4:106062943..106072055,55	MCF-7	breast:
8	chr4:105884036..105898505-chr4:106054854..106072562,138	MCF-7	breast:
9	chr4:106064646..106070521-chr4:106098298..106104512,9	MCF-7	breast:
10	chr4:106057698..106064116-chr4:106066476..106070338,7	K562	blood:
11	chr4:105849643..105852121-chr4:106070083..106072880,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251586	Chromatin interaction
ENSG00000248242	Chromatin interaction
ENSG00000138777	Chromatin interaction
ENSG00000251906	Chromatin interaction
ENSG00000251259	Chromatin interaction
ENSG00000248373	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17035483	1.00[AMR][1000 genomes]
rs35695427	1.00[AMR][1000 genomes]
rs72952362	1.00[AMR][1000 genomes]
rs72952393	1.00[AMR][1000 genomes]
rs72955130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955138	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955141	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955143	1.00[AMR][1000 genomes]
rs72955149	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963011	1.00[AMR][1000 genomes]
rs72963039	1.00[AMR][1000 genomes]
rs9968408	1.00[AMR][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	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106064800-106071800	Active TSS	GM12878-XiMat	blood
2	chr4:106066200-106070600	Active TSS	Primary monocytes fromperipheralblood	blood
3	chr4:106066200-106070800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:106066600-106070400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:106066600-106070800	Active TSS	Duodenum Mucosa	Duodenum
6	chr4:106066600-106070800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:106066800-106070400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:106066800-106070400	Active TSS	Brain Cingulate Gyrus	brain
9	chr4:106066800-106070400	Active TSS	HSMMtube	muscle
10	chr4:106066800-106070400	Active TSS	NHLF	lung
11	chr4:106067000-106070600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:106067000-106070800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:106067400-106070400	Active TSS	Brain Hippocampus Middle	brain
14	chr4:106067400-106070400	Active TSS	Placenta	Placenta
15	chr4:106067400-106070400	Active TSS	K562	blood
16	chr4:106067400-106070600	Active TSS	Fetal Muscle Leg	muscle
17	chr4:106067400-106070600	Active TSS	NH-A	brain
18	chr4:106067600-106070400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:106067600-106070600	Active TSS	HMEC	breast
20	chr4:106068400-106070400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:106068400-106071200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:106068800-106070600	Active TSS	Brain Germinal Matrix	brain
23	chr4:106068800-106070600	Active TSS	Fetal Brain Female	brain
24	chr4:106069000-106070400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:106069200-106070400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:106069200-106070600	Flanking Active TSS	HUVEC	blood vessel
27	chr4:106069200-106071400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:106069200-106071400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:106069400-106070400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:106069400-106070400	Active TSS	Fetal Brain Male	brain
31	chr4:106069400-106070600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:106069400-106070600	Weak transcription	Stomach Mucosa	stomach
33	chr4:106069400-106070800	Weak transcription	Left Ventricle	heart
34	chr4:106069400-106070800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:106069400-106070800	Weak transcription	Small Intestine	intestine
36	chr4:106069400-106071800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:106069400-106071800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr4:106069400-106072000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:106069400-106072000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:106069400-106083200	Weak transcription	Pancreas	Pancrea
41	chr4:106069400-106087600	Weak transcription	Lung	lung
42	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
43	chr4:106069600-106071000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr4:106069600-106071400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:106069600-106073200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:106069800-106070400	Enhancers	Osteobl	bone
48	chr4:106069800-106070600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:106069800-106070800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr4:106069800-106070800	Weak transcription	Ovary	ovary

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