Variant report

Variant	rs1858169
Chromosome Location	chr11:34813187-34813188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34802267..34806129-chr11:34812467..34815224,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10836314	0.84[EUR][1000 genomes]
rs11032858	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032867	0.84[EUR][1000 genomes]
rs11032874	0.84[EUR][1000 genomes]
rs11032876	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032877	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032878	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363271	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396890	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1858167	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891289	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891291	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116086	0.84[EUR][1000 genomes]
rs2217480	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34454415	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4756171	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118283	0.92[ASN][1000 genomes]
rs7120959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932115	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv897214	chr11:34764251-34821948	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1049551	chr11:34811180-34833640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1858169	HIPK3	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34806000-34814000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:34809800-34813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:34810400-34813800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:34810800-34813200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:34811400-34816000	Weak transcription	Esophagus	oesophagus
6	chr11:34811800-34813200	Weak transcription	Colonic Mucosa	Colon
7	chr11:34811800-34813800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:34811800-34814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:34811800-34814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:34811800-34818800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:34812200-34815000	Enhancers	Stomach Mucosa	stomach
12	chr11:34812400-34813200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:34812400-34815400	Enhancers	Liver	Liver
14	chr11:34812400-34815400	Enhancers	HUVEC	blood vessel
15	chr11:34812600-34814400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:34812600-34815000	Enhancers	HepG2	liver
17	chr11:34812800-34813400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:34812800-34814200	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:34812800-34815600	Enhancers	Brain Substantia Nigra	brain
20	chr11:34812800-34817800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:34813000-34814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:34813000-34814200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:34813000-34814400	Enhancers	Psoas Muscle	Psoas
24	chr11:34813000-34815000	Enhancers	Brain Hippocampus Middle	brain

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