Variant report

Variant	rs8112679
Chromosome Location	chr19:44536615-44536616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44528545..44530793-chr19:44535583..44538948,4	K562	blood:
2	chr19:44532064..44534600-chr19:44536249..44538917,3	K562	blood:
3	chr19:44535327..44537229-chr19:44540572..44542738,2	K562	blood:
4	chr19:44534267..44536830-chr19:44544823..44547468,2	K562	blood:
5	chr19:44535729..44539292-chr19:44539752..44542558,4	K562	blood:

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11667318	1.00[EUR][1000 genomes]
rs11672570	1.00[EUR][1000 genomes]
rs12327743	1.00[EUR][1000 genomes]
rs16976952	1.00[EUR][1000 genomes]
rs16976959	1.00[EUR][1000 genomes]
rs16978634	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35026751	1.00[EUR][1000 genomes]
rs378598	1.00[EUR][1000 genomes]
rs424147	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs430107	0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4599026	1.00[EUR][1000 genomes]
rs57574350	1.00[EUR][1000 genomes]
rs58379185	1.00[EUR][1000 genomes]
rs59955744	1.00[EUR][1000 genomes]
rs61254478	1.00[EUR][1000 genomes]
rs7260087	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567700	1.00[EUR][1000 genomes]
rs73569807	1.00[EUR][1000 genomes]
rs73569826	1.00[EUR][1000 genomes]
rs73569841	1.00[EUR][1000 genomes]
rs8110949	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44530800-44537000	ZNF genes & repeats	Fetal Kidney	kidney
2	chr19:44530800-44537000	ZNF genes & repeats	Fetal Lung	lung
3	chr19:44530800-44537200	ZNF genes & repeats	Ovary	ovary
4	chr19:44530800-44539200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
5	chr19:44530800-44539600	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:44530800-44542600	ZNF genes & repeats	Liver	Liver
7	chr19:44531000-44537000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:44531000-44537000	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr19:44531000-44537000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:44531000-44537000	ZNF genes & repeats	Aorta	Aorta
11	chr19:44531000-44537000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
12	chr19:44531000-44537000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
13	chr19:44531000-44537000	ZNF genes & repeats	Thymus	Thymus
14	chr19:44531000-44537200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:44531000-44537200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:44531000-44537200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:44531000-44538000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:44531000-44538200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:44531000-44538200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:44531000-44538400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:44531000-44539400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:44531000-44540000	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:44531200-44536800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:44531200-44537000	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr19:44531200-44537200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:44531200-44537400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr19:44531200-44537600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr19:44531400-44537200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr19:44531600-44537000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr19:44531600-44537000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:44531800-44537000	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr19:44531800-44537000	ZNF genes & repeats	Psoas Muscle	Psoas
33	chr19:44531800-44537000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr19:44531800-44537200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr19:44531800-44537200	ZNF genes & repeats	GM12878-XiMat	blood
36	chr19:44532000-44536800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:44532000-44537400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr19:44532200-44536800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr19:44532200-44537000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr19:44532200-44537000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr19:44532200-44537000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr19:44532200-44537000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr19:44532200-44537000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr19:44532200-44537000	ZNF genes & repeats	Dnd41	blood
45	chr19:44532200-44538800	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr19:44532200-44539800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr19:44532400-44537600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr19:44532600-44537000	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr19:44532800-44538000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:44533000-44537400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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