Variant report

Variant	rs2431439
Chromosome Location	chr5:115194582-115194583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115187300..115190447-chr5:115192577..115195039,3	K562	blood:
2	chr5:115177030..115179118-chr5:115192047..115196627,4	K562	blood:
3	chr5:114959261..114962199-chr5:115192222..115195136,3	MCF-7	breast:
4	chr5:115193597..115195164-chr5:115196988..115199956,2	K562	blood:

Variant related genes	Relation type
ENSG00000145782	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000177879	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs156659	0.89[EUR][1000 genomes]
rs252736	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3410990	chr5:115177597-115205832	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3382194	chr5:115177673-115205801	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115179000-115194800	Weak transcription	HSMMtube	muscle
2	chr5:115179800-115205000	Weak transcription	HSMM	muscle
3	chr5:115185400-115195200	Weak transcription	Esophagus	oesophagus
4	chr5:115185600-115218600	Weak transcription	Lung	lung
5	chr5:115187200-115206600	Weak transcription	Ovary	ovary
6	chr5:115187400-115206200	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:115189800-115218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:115190000-115198600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:115190400-115206000	Weak transcription	Primary B cells from cord blood	blood
11	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
12	chr5:115191400-115194600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:115191400-115195800	Enhancers	Hela-S3	cervix
14	chr5:115191600-115196000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:115191600-115197200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:115192000-115195600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:115192200-115195400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:115192200-115195400	Enhancers	Colon Smooth Muscle	Colon
19	chr5:115192400-115195400	Enhancers	NHEK	skin
20	chr5:115192400-115207600	Weak transcription	Pancreas	Pancrea
21	chr5:115192800-115194800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:115192800-115194800	Weak transcription	Right Atrium	heart
23	chr5:115192800-115195200	Weak transcription	Placenta	Placenta
24	chr5:115192800-115206000	Weak transcription	Left Ventricle	heart
25	chr5:115193000-115195000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:115193000-115195400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:115193200-115195200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:115193200-115195400	Enhancers	HMEC	breast
29	chr5:115193200-115200200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:115193200-115207400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:115193200-115239000	Weak transcription	Gastric	stomach
32	chr5:115193400-115194600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:115193400-115195200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:115193600-115194800	Weak transcription	NHLF	lung
35	chr5:115193600-115195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:115193800-115194800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:115193800-115194800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:115193800-115195400	Weak transcription	Stomach Mucosa	stomach
40	chr5:115193800-115196600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:115193800-115199200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:115193800-115205200	Weak transcription	Primary T cells from cord blood	blood
43	chr5:115194000-115194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:115194000-115195000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:115194000-115195200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:115194000-115200000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:115194000-115206000	Weak transcription	Fetal Lung	lung
48	chr5:115194000-115206000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:115194000-115206200	Weak transcription	Fetal Kidney	kidney
50	chr5:115194000-115211000	Weak transcription	HepG2	liver

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