Variant report

Variant	rs4820047
Chromosome Location	chr22:31795866-31795867
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31686527..31689345-chr22:31795585..31798136,2	MCF-7	breast:
2	chr22:31686029..31689751-chr22:31793811..31797004,3	K562	blood:
3	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
4	chr22:31685604..31688964-chr22:31794244..31796594,4	MCF-7	breast:
5	chr22:31784063..31789675-chr22:31793262..31796684,7	MCF-7	breast:
6	chr22:31793990..31796986-chr22:31884678..31887767,3	K562	blood:
7	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
8	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
9	chr22:31795193..31796801-chr22:32026385..32029380,2	MCF-7	breast:
10	chr22:31795756..31797975-chr6:82164220..82166358,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000206615	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs131204	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs131206	1.00[AFR][1000 genomes]
rs131208	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs131215	1.00[AFR][1000 genomes]
rs131218	0.81[AFR][1000 genomes]
rs140071	1.00[AFR][1000 genomes]
rs140073	1.00[AFR][1000 genomes]
rs140075	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5753598	1.00[AFR][1000 genomes]
rs5997967	1.00[AFR][1000 genomes]
rs695257	1.00[AFR][1000 genomes]
rs695615	1.00[AFR][1000 genomes]
rs695692	1.00[AFR][1000 genomes]
rs695743	1.00[YRI][hapmap]
rs695757	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31794800-31796000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:31794800-31796000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:31794800-31796200	Active TSS	Colon Smooth Muscle	Colon
4	chr22:31794800-31796200	Active TSS	Fetal Brain Female	brain
5	chr22:31794800-31796200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr22:31794800-31796200	Active TSS	Thymus	Thymus
7	chr22:31794800-31796400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:31794800-31796800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr22:31794800-31796800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr22:31794800-31797000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr22:31794800-31797000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr22:31794800-31797000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr22:31794800-31797000	Active TSS	GM12878-XiMat	blood
14	chr22:31794800-31797000	Active TSS	K562	blood
15	chr22:31795000-31796000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr22:31795000-31796000	Active TSS	Brain Anterior Caudate	brain
17	chr22:31795000-31796000	Active TSS	Placenta	Placenta
18	chr22:31795000-31796000	Active TSS	Rectal Smooth Muscle	rectum
19	chr22:31795000-31796200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:31795000-31796200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31795000-31796200	Active TSS	Brain Angular Gyrus	brain
22	chr22:31795000-31796200	Active TSS	Brain Cingulate Gyrus	brain
23	chr22:31795000-31796200	Active TSS	Brain Substantia Nigra	brain
24	chr22:31795000-31796200	Active TSS	Colonic Mucosa	Colon
25	chr22:31795000-31796200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31795000-31796200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr22:31795000-31796200	Bivalent/Poised TSS	HepG2	liver
28	chr22:31795000-31796400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:31795000-31796400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:31795000-31796400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:31795000-31796400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr22:31795000-31796400	Active TSS	Aorta	Aorta
33	chr22:31795000-31796400	Active TSS	Fetal Intestine Large	intestine
34	chr22:31795000-31796400	Active TSS	Fetal Intestine Small	intestine
35	chr22:31795000-31796400	Active TSS	Fetal Kidney	kidney
36	chr22:31795000-31796400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr22:31795000-31796600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:31795000-31796600	Active TSS	Esophagus	oesophagus
39	chr22:31795000-31796600	Active TSS	Fetal Muscle Trunk	muscle
40	chr22:31795000-31796600	Active TSS	Left Ventricle	heart
41	chr22:31795000-31796600	Active TSS	Ovary	ovary
42	chr22:31795000-31796600	Active TSS	Pancreas	Pancrea
43	chr22:31795000-31796600	Active TSS	Psoas Muscle	Psoas
44	chr22:31795000-31796600	Active TSS	Right Atrium	heart
45	chr22:31795000-31796600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr22:31795000-31796800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr22:31795000-31796800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr22:31795000-31796800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:31795000-31796800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:31795000-31796800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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