Variant report

Variant	rs382197
Chromosome Location	chr19:44509097-44509098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44507958..44509681-chr19:44512685..44515018,2	K562	blood:
2	chr19:44506934..44508722-chr19:44508906..44511281,4	K562	blood:
3	chr19:44506929..44508722-chr19:44508906..44512991,6	K562	blood:
4	chr19:44507222..44510776-chr19:44517439..44520079,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266921	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11083735	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11083736	0.84[EUR][1000 genomes]
rs11083737	0.86[EUR][1000 genomes]
rs11666432	0.81[EUR][1000 genomes]
rs12610472	0.86[EUR][1000 genomes]
rs1474061	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1996409	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2138823	0.84[EUR][1000 genomes]
rs2138824	0.84[EUR][1000 genomes]
rs2176431	0.84[EUR][1000 genomes]
rs3826941	0.86[EUR][1000 genomes]
rs4239528	0.86[EUR][1000 genomes]
rs427608	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4299256	0.86[EUR][1000 genomes]
rs4371266	0.84[EUR][1000 genomes]
rs4375771	0.86[EUR][1000 genomes]
rs4444434	0.86[EUR][1000 genomes]
rs451388	0.90[EUR][1000 genomes]
rs454904	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4555257	0.84[EUR][1000 genomes]
rs4803668	0.84[EUR][1000 genomes]
rs4803672	0.84[EUR][1000 genomes]
rs55798868	0.84[EUR][1000 genomes]
rs56003307	0.86[EUR][1000 genomes]
rs56230322	0.84[EUR][1000 genomes]
rs56250154	0.83[EUR][1000 genomes]
rs62119177	0.84[EUR][1000 genomes]
rs6509135	0.86[EUR][1000 genomes]
rs6509137	0.86[EUR][1000 genomes]
rs7251015	0.84[EUR][1000 genomes]
rs7252213	0.83[EUR][1000 genomes]
rs7255192	0.86[EUR][1000 genomes]
rs7257809	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8105003	0.83[EUR][1000 genomes]
rs8109313	0.86[EUR][1000 genomes]
rs8109615	0.86[EUR][1000 genomes]
rs8110348	0.84[EUR][1000 genomes]
rs9646633	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs382197	ZNF223	cis	Thyroid	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44508000-44510800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr19:44508000-44511000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:44508000-44511600	Weak transcription	Pancreas	Pancrea
4	chr19:44508200-44509400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:44508200-44510200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:44508200-44510800	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:44508200-44510800	Weak transcription	Brain Substantia Nigra	brain
8	chr19:44508200-44510800	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:44508200-44511000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:44508200-44511000	Weak transcription	Aorta	Aorta
11	chr19:44508200-44511000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:44508200-44511000	Weak transcription	Esophagus	oesophagus
13	chr19:44508200-44511000	Weak transcription	Gastric	stomach
14	chr19:44508200-44511000	Weak transcription	Left Ventricle	heart
15	chr19:44508200-44511000	Weak transcription	Ovary	ovary
16	chr19:44508200-44511200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:44508200-44511200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:44508200-44511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:44508200-44511400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:44508200-44511600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:44508200-44511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:44508200-44511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:44508200-44511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:44508200-44511800	Weak transcription	Stomach Mucosa	stomach
25	chr19:44508200-44512000	Weak transcription	HSMM	muscle
26	chr19:44508200-44512800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:44508400-44509200	Weak transcription	Liver	Liver
28	chr19:44508400-44509400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:44508400-44509400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr19:44508400-44509400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:44508400-44509400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:44508400-44509800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr19:44508400-44509800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:44508400-44510000	Weak transcription	Primary T cells from cord blood	blood
35	chr19:44508400-44510000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:44508400-44510000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:44508400-44510000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr19:44508400-44510000	Weak transcription	Adipose Nuclei	Adipose
39	chr19:44508400-44510200	Weak transcription	Primary B cells from cord blood	blood
40	chr19:44508400-44510200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:44508400-44510200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:44508400-44510200	Weak transcription	GM12878-XiMat	blood
43	chr19:44508400-44510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:44508400-44510400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:44508400-44510400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:44508400-44510600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:44508400-44510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:44508400-44510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:44508400-44510600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:44508400-44510600	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links