Variant report

Variant	rs72780291
Chromosome Location	chr5:126221606-126221607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126220316..126221859-chr5:126333591..126335287,2	K562	blood:
2	chr5:126220165..126221679-chr5:126246569..126249323,2	K562	blood:
3	chr5:126218335..126221734-chr5:126363299..126367120,5	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72782324	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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126201800-126253400	Weak transcription	A549	lung
2	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126205600-126223400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood
6	chr5:126210600-126223400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:126211200-126221800	Weak transcription	Fetal Intestine Small	intestine
8	chr5:126211200-126231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:126211800-126223400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:126212000-126236800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:126214200-126237400	Weak transcription	Fetal Brain Female	brain
12	chr5:126214200-126238600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:126214200-126238600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:126214200-126245400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:126214600-126232000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:126214600-126245200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:126214600-126250400	Weak transcription	Pancreas	Pancrea
18	chr5:126214800-126255200	Weak transcription	Psoas Muscle	Psoas
19	chr5:126215400-126245000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:126220400-126225400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:126220400-126238400	Weak transcription	Ovary	ovary
22	chr5:126220600-126236000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:126220600-126238400	Weak transcription	Left Ventricle	heart
24	chr5:126220800-126221800	Enhancers	K562	blood
25	chr5:126220800-126223200	Weak transcription	Primary B cells from cord blood	blood
26	chr5:126220800-126237000	Weak transcription	HSMM	muscle
27	chr5:126220800-126237600	Weak transcription	Right Ventricle	heart
28	chr5:126220800-126245400	Weak transcription	HUVEC	blood vessel

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