Variant report

Variant	rs72692629
Chromosome Location	chr4:99804280-99804281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99802994..99805364-chr4:99849361..99850937,2	MCF-7	breast:
2	chr4:99802708..99805443-chr4:99847782..99851575,3	K562	blood:
3	chr4:99804091..99805987-chr4:99813015..99814589,2	K562	blood:
4	chr4:99801164..99805470-chr4:99915140..99918269,3	K562	blood:

Variant related genes	Relation type
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13109000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13136880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13145463	1.00[AFR][1000 genomes]
rs35850068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99790800-99805400	Weak transcription	Fetal Lung	lung
2	chr4:99792400-99825000	Weak transcription	Gastric	stomach
3	chr4:99794600-99804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:99794600-99805600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:99794600-99805600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:99795000-99807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:99795800-99804800	Weak transcription	Left Ventricle	heart
8	chr4:99795800-99805000	Weak transcription	GM12878-XiMat	blood
9	chr4:99795800-99806400	Weak transcription	Thymus	Thymus
10	chr4:99796000-99805400	Weak transcription	Fetal Brain Female	brain
11	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
12	chr4:99796400-99804800	Weak transcription	Primary T cells from cord blood	blood
13	chr4:99796400-99804800	Weak transcription	Small Intestine	intestine
14	chr4:99796400-99805000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:99796600-99806800	Weak transcription	HSMMtube	muscle
16	chr4:99796600-99807600	Weak transcription	Brain Germinal Matrix	brain
17	chr4:99796800-99814400	Weak transcription	Fetal Brain Male	brain
18	chr4:99797000-99807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:99797200-99806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:99797400-99805600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:99797400-99813400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:99797400-99813400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr4:99797400-99815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:99798000-99806400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:99798800-99805400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:99799000-99805000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:99799000-99805400	Weak transcription	Hela-S3	cervix
31	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr4:99799200-99805000	Weak transcription	Primary B cells from cord blood	blood
33	chr4:99799200-99806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:99799200-99806600	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:99799200-99806800	Weak transcription	Brain Substantia Nigra	brain
36	chr4:99799400-99804800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:99799400-99807000	Weak transcription	A549	lung
38	chr4:99799400-99807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:99799800-99811800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:99800000-99811000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:99800000-99815000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:99800200-99813200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:99800800-99813400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:99801000-99805000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:99801000-99806600	Weak transcription	Brain Anterior Caudate	brain
50	chr4:99801200-99804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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