Variant report

Variant	rs2031064
Chromosome Location	chr14:22003250-22003251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr14:21999815..22003794-chr14:22006618..22010157,4	K562	blood:
4	chr14:21982774..21984497-chr14:22002479..22004308,2	MCF-7	breast:
5	chr14:21972658..21975996-chr14:22001399..22003597,3	K562	blood:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483254	1.00[AFR][1000 genomes]
rs74034937	1.00[EUR][1000 genomes]
rs8016621	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21997000-22003400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:22001400-22003800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:22001400-22005600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:22001800-22003400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:22002400-22005600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:22002600-22005400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:22002600-22005600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:22002600-22005800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:22002800-22003400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:22002800-22003600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:22002800-22004000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:22002800-22005400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:22002800-22005600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:22002800-22005600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:22002800-22005600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:22002800-22005600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:22003000-22005400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:22003000-22005600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:22003000-22005600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:22003200-22004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:22003200-22005400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:22003200-22005400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:22003200-22006000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:22003200-22006000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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