Variant report

Variant	rs8016621
Chromosome Location	chr14:22002461-22002462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21999815..22003810-chr14:22005967..22010157,5	K562	blood:
2	chr14:21977989..21980901-chr14:22001631..22005636,4	K562	blood:
3	chr14:22001163..22003091-chr14:22003636..22006172,2	K562	blood:
4	chr14:21993529..21997076-chr14:21999911..22003110,4	K562	blood:
5	chr14:21999815..22003794-chr14:22006618..22010157,4	K562	blood:
6	chr14:21997433..21999018-chr14:22000681..22002820,2	K562	blood:
7	chr14:21994337..21996324-chr14:22001610..22003213,2	K562	blood:
8	chr14:21972658..21975996-chr14:22001399..22003597,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000165821	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2031064	1.00[EUR][1000 genomes]
rs74034937	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
8	nsv1049871	chr14:21992049-22053477	Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21995400-22002800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:21997000-22002800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:21997000-22003400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:22001200-22002800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:22001200-22002800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr14:22001400-22003800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:22001400-22005600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:22001800-22002800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:22001800-22002800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr14:22001800-22003000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:22001800-22003400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:22002000-22002800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:22002200-22002600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:22002200-22003200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:22002400-22002600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr14:22002400-22002600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr14:22002400-22002600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
18	chr14:22002400-22002600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:22002400-22002800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:22002400-22002800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr14:22002400-22002800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr14:22002400-22002800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:22002400-22005600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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