Variant report

Variant	rs67293224
Chromosome Location	chr19:37803248-37803249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:37803160-37803310	A549	lung:	n/a	n/a
2	MXI1	chr19:37803030-37804356	SK-N-SH	brain:	n/a	chr19:37803672-37803687 chr19:37803882-37803891

Variant related genes	Relation type
HKR1	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10403613	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10404602	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10404920	0.86[EUR][1000 genomes]
rs10405064	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10405325	0.82[EUR][1000 genomes]
rs10405407	0.87[EUR][1000 genomes]
rs10412043	0.88[EUR][1000 genomes]
rs10413602	0.80[EUR][1000 genomes]
rs10414904	0.87[EUR][1000 genomes]
rs10415024	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10415358	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415937	0.87[EUR][1000 genomes]
rs10417503	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10417844	0.87[EUR][1000 genomes]
rs10420430	0.80[EUR][1000 genomes]
rs10422074	0.80[EUR][1000 genomes]
rs10422423	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10422967	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10424574	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10426297	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10426666	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10426699	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12104380	0.86[EUR][1000 genomes]
rs12104381	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12709812	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12709813	0.87[EUR][1000 genomes]
rs12981532	0.80[EUR][1000 genomes]
rs12982333	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13343485	0.85[EUR][1000 genomes]
rs13345116	0.87[EUR][1000 genomes]
rs13345148	0.89[EUR][1000 genomes]
rs1373991	0.87[EUR][1000 genomes]
rs1559229	0.82[EUR][1000 genomes]
rs1823061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28402338	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34544865	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34603719	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35085437	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3745765	0.85[EUR][1000 genomes]
rs4417644	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4452075	0.83[EUR][1000 genomes]
rs4803229	0.83[EUR][1000 genomes]
rs4803347	0.87[EUR][1000 genomes]
rs4969487	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6508711	0.89[EUR][1000 genomes]
rs6508716	0.88[EUR][1000 genomes]
rs6508719	0.82[EUR][1000 genomes]
rs713256	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7246993	0.80[EUR][1000 genomes]
rs7247259	0.87[EUR][1000 genomes]
rs7257495	0.89[EUR][1000 genomes]
rs7257672	0.89[EUR][1000 genomes]
rs7258692	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7259968	0.89[EUR][1000 genomes]
rs7408133	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7408446	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7408563	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8111782	0.86[EUR][1000 genomes]
rs9304566	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9917081	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
4	esv3520361	chr19:37745067-37811325	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3520362	chr19:37745067-37811325	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv978811	chr19:37749967-37820517	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37799200-37803400	Weak transcription	Aorta	Aorta
2	chr19:37800200-37803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37801800-37803400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:37803000-37803400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:37803000-37803400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr19:37803000-37803400	Enhancers	Primary T cells from cord blood	blood
7	chr19:37803000-37803400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr19:37803000-37803400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr19:37803000-37803400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:37803000-37803400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:37803000-37803400	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr19:37803000-37803400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:37803000-37803400	Enhancers	Fetal Muscle Trunk	muscle
14	chr19:37803000-37803400	Enhancers	Fetal Muscle Leg	muscle
15	chr19:37803000-37803400	Enhancers	Left Ventricle	heart
16	chr19:37803000-37803400	Enhancers	Ovary	ovary
17	chr19:37803000-37803400	Enhancers	HSMMtube	muscle
18	chr19:37803000-37804000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr19:37803000-37804000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:37803000-37804000	Active TSS	Brain Germinal Matrix	brain
21	chr19:37803000-37804000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr19:37803000-37804200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr19:37803000-37804200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:37803000-37804200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:37803000-37804200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:37803000-37804200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:37803000-37804200	Active TSS	Fetal Brain Female	brain
28	chr19:37803000-37804200	Active TSS	Fetal Kidney	kidney
29	chr19:37803000-37804400	Active TSS	HepG2	liver
30	chr19:37803000-37804600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr19:37803000-37804600	Enhancers	Fetal Brain Male	brain
32	chr19:37803000-37804800	Flanking Active TSS	Dnd41	blood
33	chr19:37803200-37803400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:37803200-37803400	Enhancers	Primary B cells from peripheral blood	blood
35	chr19:37803200-37803400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr19:37803200-37803400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr19:37803200-37803400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr19:37803200-37803400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:37803200-37803400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:37803200-37803400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr19:37803200-37803400	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr19:37803200-37803400	Enhancers	Fetal Intestine Large	intestine
43	chr19:37803200-37803400	Enhancers	Fetal Stomach	stomach
44	chr19:37803200-37803400	Enhancers	Pancreas	Pancrea
45	chr19:37803200-37803400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr19:37803200-37803400	Active TSS	Stomach Smooth Muscle	stomach
47	chr19:37803200-37803400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr19:37803200-37803600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr19:37803200-37803600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr19:37803200-37803600	Flanking Active TSS	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links