Variant report

Variant	rs1041857
Chromosome Location	chr14:22011216-22011217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21973399..21975434-chr14:22010976..22012541,2	K562	blood:
2	chr14:21978717..21981536-chr14:22010601..22012107,2	MCF-7	breast:
3	chr14:22010139..22013008-chr14:22013729..22015739,2	MCF-7	breast:
4	chr14:22005339..22006938-chr14:22010983..22012733,2	K562	blood:
5	chr14:21977102..21980235-chr14:22009730..22011480,3	K562	blood:
6	chr14:21990799..21992419-chr14:22010466..22012179,2	K562	blood:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000165821	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1041856	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs17107973	0.87[CHD][hapmap]
rs17107974	0.87[CHD][hapmap]
rs36022096	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148997	1.00[CHB][hapmap];0.89[ASN][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1041857	GZMH	cis	cerebellum	SCAN
rs1041857	OR4Q3	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22005600-22011400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:22005600-22012400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:22007600-22011600	Weak transcription	Fetal Brain Male	brain
4	chr14:22008000-22011400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:22009800-22011800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:22010200-22011400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:22010800-22011600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:22010800-22011600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:22010800-22011600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:22010800-22011600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:22010800-22011600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:22011000-22011600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:22011000-22012000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:22011000-22012200	Enhancers	K562	blood
15	chr14:22011000-22012400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:22011000-22012400	Enhancers	Fetal Lung	lung
17	chr14:22011000-22012400	Enhancers	HepG2	liver
18	chr14:22011200-22011600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:22011200-22011600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr14:22011200-22011800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:22011200-22011800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:22011200-22012200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:22011200-22012400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:22011200-22012400	Enhancers	Fetal Kidney	kidney
25	chr14:22011200-22013000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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