Variant report

Variant	rs73581416
Chromosome Location	chr14:21935548-21935549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21932869..21935832-chr14:21936427..21939516,4	K562	blood:
2	chr14:21935041..21938079-chr14:21943046..21945034,3	K562	blood:
3	chr14:21935041..21937566-chr14:21943294..21945450,4	K562	blood:
4	chr14:21918398..21920093-chr14:21933905..21936846,2	K562	blood:
5	chr14:21932234..21934143-chr14:21934754..21937508,2	MCF-7	breast:
6	chr14:21931960..21934120-chr14:21934946..21937150,2	K562	blood:

Variant related genes	Relation type
ENSG00000092203	Chromatin interaction
ENSG00000129472	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1045811	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1045812	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1061026	0.85[AMR][1000 genomes]
rs11845628	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11848193	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12878084	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12880071	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12884313	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12891263	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12894578	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17106448	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17106830	0.82[AMR][1000 genomes]
rs33919729	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34765612	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35446048	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35463722	0.86[AMR][1000 genomes]
rs35582631	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35856604	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3752411	0.84[AMR][1000 genomes]
rs3762161	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981372	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4982449	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55886165	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56144428	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56310285	0.82[AMR][1000 genomes]
rs57098252	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59617955	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59852035	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61973205	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61973214	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67492181	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67802283	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73581403	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73581408	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73581411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73581419	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322989	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21924800-21944600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21925000-21935600	Weak transcription	Fetal Brain Male	brain
3	chr14:21925000-21935800	Weak transcription	Fetal Heart	heart
4	chr14:21925000-21940400	Weak transcription	K562	blood
5	chr14:21925000-21943800	Weak transcription	HMEC	breast
6	chr14:21925000-21944000	Weak transcription	Stomach Mucosa	stomach
7	chr14:21925000-21944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:21925000-21944600	Weak transcription	Small Intestine	intestine
9	chr14:21925200-21943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:21926200-21937800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:21926200-21939400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:21926400-21937600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:21926800-21937400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:21926800-21937800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:21926800-21937800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:21926800-21942000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:21927000-21939000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:21927000-21942800	Strong transcription	Liver	Liver
19	chr14:21927200-21943400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:21927400-21937200	Strong transcription	Placenta	Placenta
21	chr14:21927400-21937200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr14:21927400-21937400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:21927400-21937400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:21927400-21937800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr14:21927400-21938000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:21927400-21939000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:21927400-21943000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:21927600-21937400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:21927800-21937200	Strong transcription	Fetal Intestine Large	intestine
30	chr14:21927800-21937400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:21927800-21937600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:21927800-21942800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:21927800-21943400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:21928000-21936600	Strong transcription	Colon Smooth Muscle	Colon
35	chr14:21928000-21937000	Strong transcription	Left Ventricle	heart
36	chr14:21928000-21937200	Strong transcription	Fetal Muscle Leg	muscle
37	chr14:21928000-21937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:21928000-21937400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:21928000-21937600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr14:21928000-21942400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:21928200-21937400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr14:21928200-21937600	Strong transcription	Primary B cells from cord blood	blood
43	chr14:21928400-21937000	Strong transcription	Fetal Stomach	stomach
44	chr14:21928800-21937000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:21928800-21937200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:21929000-21937200	Strong transcription	Primary T cells from cord blood	blood
47	chr14:21929000-21937400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr14:21929000-21937800	Strong transcription	HepG2	liver
49	chr14:21929200-21937000	Strong transcription	Lung	lung
50	chr14:21929200-21937000	Strong transcription	Ovary	ovary

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