Variant report

Variant	rs10409475
Chromosome Location	chr19:44534483-44534484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44532064..44534600-chr19:44536249..44538917,3	K562	blood:
2	chr19:44533699..44535211-chr19:44554393..44556460,2	MCF-7	breast:
3	chr19:44528641..44530994-chr19:44532234..44535492,3	K562	blood:
4	chr19:44533100..44535646-chr19:44537417..44539730,2	K562	blood:
5	chr19:44534267..44536830-chr19:44544823..44547468,2	K562	blood:

Variant related genes	Relation type
ENSG00000267144	Chromatin interaction
ENSG00000267022	Chromatin interaction
ENSG00000178386	Chromatin interaction
ENSG00000159885	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10164312	1.00[EUR][1000 genomes]
rs10164320	1.00[EUR][1000 genomes]
rs10401773	1.00[EUR][1000 genomes]
rs10404050	1.00[EUR][1000 genomes]
rs10404791	1.00[EUR][1000 genomes]
rs10404999	1.00[EUR][1000 genomes]
rs10405366	1.00[EUR][1000 genomes]
rs10409400	1.00[EUR][1000 genomes]
rs10415885	1.00[EUR][1000 genomes]
rs10416649	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	1.00[EUR][1000 genomes]
rs11878320	1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880794	1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes]
rs11881355	1.00[EUR][1000 genomes]
rs11882281	1.00[EUR][1000 genomes]
rs11883048	1.00[EUR][1000 genomes]
rs11883052	1.00[EUR][1000 genomes]
rs12983129	1.00[EUR][1000 genomes]
rs13343401	1.00[EUR][1000 genomes]
rs13345060	1.00[EUR][1000 genomes]
rs13345516	1.00[EUR][1000 genomes]
rs16976891	1.00[EUR][1000 genomes]
rs16976894	1.00[EUR][1000 genomes]
rs28591400	1.00[EUR][1000 genomes]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57796743	1.00[EUR][1000 genomes]
rs57956437	1.00[EUR][1000 genomes]
rs58056761	1.00[EUR][1000 genomes]
rs58271953	1.00[EUR][1000 genomes]
rs58935748	1.00[EUR][1000 genomes]
rs59205113	1.00[EUR][1000 genomes]
rs59926292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60064087	1.00[EUR][1000 genomes]
rs60833312	1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7253031	1.00[EUR][1000 genomes]
rs7254182	1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	1.00[EUR][1000 genomes]
rs73556279	1.00[EUR][1000 genomes]
rs73556299	1.00[EUR][1000 genomes]
rs73558203	1.00[EUR][1000 genomes]
rs73558209	1.00[EUR][1000 genomes]
rs73558211	1.00[EUR][1000 genomes]
rs73558215	1.00[EUR][1000 genomes]
rs73558217	1.00[EUR][1000 genomes]
rs73558221	1.00[EUR][1000 genomes]
rs73558222	1.00[EUR][1000 genomes]
rs73558227	1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	1.00[EUR][1000 genomes]
rs73558264	1.00[EUR][1000 genomes]
rs73558286	1.00[EUR][1000 genomes]
rs73558298	1.00[EUR][1000 genomes]
rs73558301	1.00[EUR][1000 genomes]
rs73562181	1.00[EUR][1000 genomes]
rs73562184	1.00[EUR][1000 genomes]
rs73562187	1.00[EUR][1000 genomes]
rs73562192	1.00[EUR][1000 genomes]
rs73562196	1.00[EUR][1000 genomes]
rs73564015	1.00[EUR][1000 genomes]
rs73932846	1.00[EUR][1000 genomes]
rs8100906	1.00[EUR][1000 genomes]
rs8100990	1.00[EUR][1000 genomes]
rs8101607	1.00[EUR][1000 genomes]
rs8102859	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44530200-44535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44530400-44536200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:44530600-44534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:44530600-44534800	Weak transcription	HUVEC	blood vessel
5	chr19:44530600-44535000	Weak transcription	HMEC	breast
6	chr19:44530800-44534600	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr19:44530800-44534600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr19:44530800-44537000	ZNF genes & repeats	Fetal Kidney	kidney
9	chr19:44530800-44537000	ZNF genes & repeats	Fetal Lung	lung
10	chr19:44530800-44537200	ZNF genes & repeats	Ovary	ovary
11	chr19:44530800-44539200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr19:44530800-44539600	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:44530800-44542600	ZNF genes & repeats	Liver	Liver
14	chr19:44531000-44534600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:44531000-44534600	Strong transcription	Fetal Brain Male	brain
16	chr19:44531000-44534600	Strong transcription	HSMM	muscle
17	chr19:44531000-44534800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:44531000-44534800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:44531000-44535000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr19:44531000-44535000	Strong transcription	HSMMtube	muscle
21	chr19:44531000-44535000	Strong transcription	Osteobl	bone
22	chr19:44531000-44535800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:44531000-44536400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:44531000-44537000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:44531000-44537000	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr19:44531000-44537000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:44531000-44537000	ZNF genes & repeats	Aorta	Aorta
28	chr19:44531000-44537000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
29	chr19:44531000-44537000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
30	chr19:44531000-44537000	ZNF genes & repeats	Thymus	Thymus
31	chr19:44531000-44537200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:44531000-44537200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:44531000-44537200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr19:44531000-44538000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr19:44531000-44538200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr19:44531000-44538200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:44531000-44538400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:44531000-44539400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr19:44531000-44540000	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr19:44531200-44534800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:44531200-44535600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:44531200-44535600	Strong transcription	Fetal Thymus	thymus
43	chr19:44531200-44536600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr19:44531200-44536800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:44531200-44537000	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr19:44531200-44537200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr19:44531200-44537400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr19:44531200-44537600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr19:44531400-44534800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:44531400-44536000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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