Variant report

Variant	rs73579690
Chromosome Location	chr14:21908949-21908950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr14:21908929-21909505	K562	blood:	n/a	chr14:21909143-21909164 chr14:21909150-21909157 chr14:21909150-21909157 chr14:21909176-21909184 chr14:21909150-21909157 chr14:21909150-21909159
2	GATA2	chr14:21908826-21909314	SH-SY5Y	brain:	n/a	chr14:21909143-21909164 chr14:21909150-21909157 chr14:21909150-21909157 chr14:21909176-21909184 chr14:21909150-21909157 chr14:21909150-21909159
3	TEAD4	chr14:21908923-21909377	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21907272..21910219-chr14:21916395..21918950,2	K562	blood:
2	chr14:21908706..21910690-chr14:21978697..21980987,2	MCF-7	breast:
3	chr14:21906849..21909537-chr14:21910523..21912102,2	MCF-7	breast:
4	chr14:21907278..21910254-chr14:21912129..21914781,3	K562	blood:
5	chr14:21908719..21910349-chr14:21917450..21919306,2	K562	blood:
6	chr14:21904205..21907170-chr14:21908255..21911608,3	K562	blood:
7	chr14:21904638..21906944-chr14:21907761..21909355,3	MCF-7	breast:
8	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:
9	chr14:21907423..21910999-chr14:21920939..21926242,8	MCF-7	breast:

Variant related genes	Relation type
CHD8	TF binding region
ENSG00000100888	Chromatin interaction
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11845999	0.82[AFR][1000 genomes]
rs11846401	0.91[AFR][1000 genomes]
rs11848144	0.94[AFR][1000 genomes]
rs11848400	0.81[AFR][1000 genomes]
rs11852123	0.96[AFR][1000 genomes]
rs17105113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56097784	0.81[AFR][1000 genomes]
rs56108731	0.88[AFR][1000 genomes]
rs56229026	0.82[AFR][1000 genomes]
rs58334761	0.85[AFR][1000 genomes]
rs60690486	0.87[AFR][1000 genomes]
rs73579641	0.81[AFR][1000 genomes]
rs73579663	0.87[AFR][1000 genomes]
rs73579666	0.87[AFR][1000 genomes]
rs73579678	0.96[AFR][1000 genomes]
rs73579686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579692	1.00[AMR][1000 genomes]
rs73579699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74034925	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21905600-21910400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:21906000-21909200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:21906000-21910400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
5	chr14:21906200-21909000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:21906200-21909000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:21906200-21909000	Weak transcription	Esophagus	oesophagus
8	chr14:21906200-21909000	Weak transcription	NHEK	skin
9	chr14:21906200-21909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:21906200-21910000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:21906200-21912000	Weak transcription	Primary B cells from cord blood	blood
12	chr14:21906200-21914800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:21906200-21916400	Weak transcription	GM12878-XiMat	blood
14	chr14:21906200-21916600	Weak transcription	Small Intestine	intestine
15	chr14:21906200-21917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:21906200-21917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:21906200-21917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:21906200-21917600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:21906200-21917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:21906200-21917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:21906200-21918000	Weak transcription	HUVEC	blood vessel
22	chr14:21906200-21918600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:21906200-21918600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:21906200-21918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:21906200-21918600	Weak transcription	NH-A	brain
26	chr14:21906200-21919800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:21906200-21921200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:21906200-21921200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:21906200-21921200	Weak transcription	Fetal Brain Female	brain
30	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:21906200-21921400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:21906200-21921400	Weak transcription	Hela-S3	cervix
33	chr14:21906200-21921600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:21906200-21921600	Weak transcription	NHLF	lung
35	chr14:21906200-21922000	Weak transcription	Psoas Muscle	Psoas
36	chr14:21906200-21922400	Weak transcription	Right Atrium	heart
37	chr14:21906200-21922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:21906200-21922400	Weak transcription	Osteobl	bone
39	chr14:21906200-21923000	Weak transcription	Thymus	Thymus
40	chr14:21906200-21923000	Weak transcription	HSMMtube	muscle
41	chr14:21906400-21909000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:21906400-21909000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:21906400-21909000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr14:21906400-21909200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:21906400-21909400	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:21906400-21910200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:21906400-21910200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:21906400-21910200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:21906400-21910800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:21906400-21914600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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