Variant report

Variant	rs4420499
Chromosome Location	chr15:77314974-77314975
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77311951..77316312-chr15:77325010..77329080,4	K562	blood:

Variant related genes	Relation type
ENSG00000140368	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11639459	0.84[CEU][hapmap]
rs17465755	0.92[CEU][hapmap]
rs3936040	0.92[CEU][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1808532	chr15:77257714-77332539	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1035874	chr15:77266776-77328742	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1822592	chr15:77283956-77332539	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv570111	chr15:77286693-77332606	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1048833	chr15:77294593-77339260	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv1848501	chr15:77301357-77327571	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1804890	chr15:77302969-77332482	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1836749	chr15:77302969-77332606	Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1842687	chr15:77307260-77332606	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4420499	COMMD4	cis	parietal	SCAN
rs4420499	LARP6	cis	cerebellum	SCAN
rs4420499	IMP3	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77303000-77319600	Weak transcription	Pancreas	Pancrea
2	chr15:77306600-77316800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:77307400-77322400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:77307800-77320800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:77308600-77317400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:77308800-77327600	Weak transcription	Esophagus	oesophagus
7	chr15:77309200-77315400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:77309400-77316000	Genic enhancers	Spleen	Spleen
9	chr15:77309400-77320000	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr15:77309800-77319600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:77311400-77315600	Enhancers	GM12878-XiMat	blood
12	chr15:77311400-77316800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:77311600-77316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:77311800-77316800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr15:77312000-77315000	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:77312200-77328400	Weak transcription	Aorta	Aorta
17	chr15:77312800-77315000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:77312800-77315400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:77313000-77327800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:77313200-77315600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr15:77313200-77316800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr15:77313200-77319400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:77313400-77315000	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:77313400-77315400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:77313400-77315400	Enhancers	Dnd41	blood
26	chr15:77313400-77316600	Enhancers	Fetal Thymus	thymus
27	chr15:77313400-77316800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr15:77313400-77320200	Weak transcription	Right Ventricle	heart
29	chr15:77313400-77327200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr15:77313600-77315000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:77313600-77315200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:77313600-77315200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:77313600-77315400	Enhancers	HSMM	muscle
34	chr15:77313600-77319200	Weak transcription	Fetal Heart	heart
35	chr15:77313800-77315400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
36	chr15:77314000-77315000	Enhancers	Fetal Muscle Leg	muscle
37	chr15:77314000-77315000	Enhancers	NHDF-Ad	bronchial
38	chr15:77314000-77315000	Enhancers	Osteobl	bone
39	chr15:77314000-77315200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:77314000-77315400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:77314000-77315400	Enhancers	Adipose Nuclei	Adipose
42	chr15:77314000-77315400	Enhancers	NH-A	brain
43	chr15:77314000-77315800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:77314200-77315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:77314200-77315000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:77314200-77315000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:77314200-77315000	Enhancers	HUVEC	blood vessel
48	chr15:77314200-77315000	Enhancers	NHLF	lung
49	chr15:77314200-77315200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:77314200-77315400	Enhancers	Placenta Amnion	Placenta Amnion

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