Variant report

Variant	rs35516218
Chromosome Location	chr14:21469212-21469213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21456613..21458834-chr14:21467915..21469855,2	K562	blood:
2	chr14:21457334..21459007-chr14:21467908..21469855,2	K562	blood:

Variant related genes	Relation type
ENSG00000165792	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10133067	1.00[AMR][1000 genomes]
rs17098147	1.00[AMR][1000 genomes]
rs1951418	1.00[AMR][1000 genomes]
rs2180998	1.00[AMR][1000 genomes]
rs2992519	1.00[AMR][1000 genomes]
rs57361307	1.00[AMR][1000 genomes]
rs57917976	1.00[AMR][1000 genomes]
rs57965321	1.00[AMR][1000 genomes]
rs58947592	1.00[AMR][1000 genomes]
rs58976014	1.00[AMR][1000 genomes]
rs61729745	1.00[AMR][1000 genomes]
rs61741859	1.00[AMR][1000 genomes]
rs7140397	1.00[AMR][1000 genomes]
rs73571899	1.00[AMR][1000 genomes]
rs73574001	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21465200-21470200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:21465400-21472200	Weak transcription	Right Ventricle	heart
3	chr14:21465600-21472000	Weak transcription	Left Ventricle	heart
4	chr14:21465600-21477000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:21465800-21472000	Weak transcription	Fetal Stomach	stomach
6	chr14:21465800-21472200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:21465800-21473400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:21466000-21473600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:21466000-21485600	Weak transcription	Lung	lung
10	chr14:21466600-21470400	Weak transcription	Fetal Brain Female	brain
11	chr14:21466600-21470600	Weak transcription	Fetal Kidney	kidney
12	chr14:21467000-21471200	Weak transcription	Primary T cells from cord blood	blood
13	chr14:21467200-21470000	Weak transcription	Thymus	Thymus
14	chr14:21467400-21470600	Weak transcription	Fetal Thymus	thymus
15	chr14:21467600-21469400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:21467600-21469600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:21467600-21469600	Weak transcription	K562	blood
18	chr14:21468000-21469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:21468000-21479000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:21468200-21469400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:21468400-21469600	Weak transcription	Esophagus	oesophagus
22	chr14:21468600-21469600	Weak transcription	Fetal Intestine Large	intestine
23	chr14:21468600-21469600	Weak transcription	Fetal Intestine Small	intestine
24	chr14:21468600-21471200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:21469000-21471200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr14:21469200-21469400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:21469200-21469400	Active TSS	Spleen	Spleen
28	chr14:21469200-21469600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:21469200-21469600	Enhancers	Colonic Mucosa	Colon
30	chr14:21469200-21469800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:21469200-21470000	Enhancers	Fetal Heart	heart

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