Variant report

Variant	rs16934269
Chromosome Location	chr10:52170033-52170034
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52163174..52165033-chr10:52169624..52171788,2	K562	blood:
2	chr10:52169351..52171614-chr10:52383137..52385648,2	K562	blood:
3	chr10:52164829..52166437-chr10:52168704..52170422,2	MCF-7	breast:
4	chr10:52169460..52174968-chr10:52176430..52182227,8	K562	blood:

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11006152	1.00[EUR][1000 genomes]
rs11814231	1.00[EUR][1000 genomes]
rs16934373	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41417550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58675275	1.00[EUR][1000 genomes]
rs59273165	1.00[EUR][1000 genomes]
rs60757498	1.00[EUR][1000 genomes]
rs7100732	1.00[EUR][1000 genomes]
rs73318725	1.00[EUR][1000 genomes]
rs73318727	1.00[EUR][1000 genomes]
rs73318732	1.00[EUR][1000 genomes]
rs73318734	1.00[EUR][1000 genomes]
rs73318745	1.00[EUR][1000 genomes]
rs74131296	1.00[EUR][1000 genomes]
rs7900063	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7921654	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7922659	1.00[EUR][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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv521273	chr10:52051645-52197847	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv948006	chr10:52127164-52177684	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52142600-52170200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:52147000-52176600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:52156200-52170200	Weak transcription	Pancreas	Pancrea
4	chr10:52157000-52170800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr10:52157200-52177600	Weak transcription	Spleen	Spleen
6	chr10:52157800-52172000	Weak transcription	Fetal Lung	lung
7	chr10:52157800-52173200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:52157800-52175400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:52157800-52176800	Weak transcription	Lung	lung
10	chr10:52158800-52172200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:52160800-52176800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:52163200-52170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:52163600-52176800	Weak transcription	Thymus	Thymus
14	chr10:52164400-52170200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:52164400-52172400	Weak transcription	Ovary	ovary
16	chr10:52164400-52173800	Weak transcription	Psoas Muscle	Psoas
17	chr10:52164400-52174000	Weak transcription	Brain Angular Gyrus	brain
18	chr10:52164400-52177600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:52164600-52171000	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:52164600-52176600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr10:52165200-52171600	Weak transcription	Brain Anterior Caudate	brain
22	chr10:52165400-52171800	Weak transcription	Liver	Liver
23	chr10:52166400-52170200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:52166400-52170200	Genic enhancers	K562	blood
25	chr10:52166600-52170400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:52166600-52175800	Weak transcription	Primary T cells from cord blood	blood
27	chr10:52166600-52177400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr10:52166800-52171400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr10:52166800-52177200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr10:52166800-52177400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:52167000-52176800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:52167000-52176800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:52167000-52177200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr10:52167000-52177400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr10:52167600-52173000	Weak transcription	HepG2	liver
36	chr10:52167600-52176800	Weak transcription	Primary B cells from cord blood	blood
37	chr10:52167800-52171400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:52168000-52170200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr10:52168000-52177400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:52168200-52171800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:52168400-52170600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr10:52168600-52176200	Weak transcription	Right Atrium	heart
43	chr10:52168600-52176600	Weak transcription	Fetal Brain Male	brain
44	chr10:52168800-52170200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr10:52168800-52170400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:52168800-52171200	Enhancers	NHDF-Ad	bronchial
47	chr10:52169000-52170400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:52169000-52170400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:52169000-52170400	Enhancers	Adipose Nuclei	Adipose
50	chr10:52169000-52172400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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