Variant report

Variant	rs73930203
Chromosome Location	chr19:39311356-39311357
allele	A/G
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	TAL1	chr19:39311217-39311432	K562	blood:	n/a	n/a
2	POLR2A	chr19:39302778-39313143	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39305724..39308620-chr19:39308879..39311363,2	K562	blood:
2	chr19:39310279..39311821-chr19:39336796..39339611,2	K562	blood:
3	chr19:39305724..39308270-chr19:39309702..39311363,2	K562	blood:

Variant related genes	Relation type
ECH1	TF binding region
ENSG00000104823	Chromatin interaction
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1078733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2403782	1.00[EUR][1000 genomes]
rs4488583	1.00[EUR][1000 genomes]
rs73537683	1.00[EUR][1000 genomes]
rs73537686	1.00[EUR][1000 genomes]
rs73930212	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933060	1.00[EUR][1000 genomes]
rs73933061	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39284000-39318200	Weak transcription	Fetal Kidney	kidney
2	chr19:39296200-39318200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:39296400-39318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:39296400-39318200	Weak transcription	NHEK	skin
5	chr19:39301400-39320200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:39304000-39317600	Weak transcription	HSMMtube	muscle
7	chr19:39304200-39312800	Genic enhancers	Fetal Intestine Small	intestine
8	chr19:39304400-39316800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:39304400-39321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:39304600-39318200	Weak transcription	Osteobl	bone
11	chr19:39304800-39320800	Weak transcription	HSMM	muscle
12	chr19:39305000-39315000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr19:39305200-39311400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr19:39305200-39316000	Strong transcription	Primary T cells from cord blood	blood
15	chr19:39305200-39321600	Strong transcription	Fetal Stomach	stomach
16	chr19:39305400-39315800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:39305400-39321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:39305600-39312200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:39305600-39314000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:39305600-39314000	Strong transcription	Esophagus	oesophagus
21	chr19:39305600-39314000	Strong transcription	Lung	lung
22	chr19:39305600-39314400	Strong transcription	Thymus	Thymus
23	chr19:39305600-39318800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr19:39305600-39320400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:39305600-39321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:39305800-39311400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:39305800-39312000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:39305800-39312200	Strong transcription	Brain Cingulate Gyrus	brain
29	chr19:39305800-39312600	Strong transcription	Fetal Brain Female	brain
30	chr19:39305800-39312800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:39305800-39313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:39306000-39312000	Strong transcription	Colon Smooth Muscle	Colon
33	chr19:39306400-39317800	Weak transcription	Small Intestine	intestine
34	chr19:39307400-39321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:39307800-39311800	Enhancers	Stomach Mucosa	stomach
36	chr19:39308000-39313400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:39308000-39317600	Weak transcription	Fetal Thymus	thymus
38	chr19:39308200-39313400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:39308200-39313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:39308200-39320400	Weak transcription	NHLF	lung
41	chr19:39308400-39311800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:39308400-39314000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:39308400-39315600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:39308400-39318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:39308600-39314600	Weak transcription	Primary B cells from cord blood	blood
46	chr19:39308600-39318000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:39308800-39311800	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr19:39308800-39312000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:39308800-39313400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:39308800-39313600	Weak transcription	Brain Substantia Nigra	brain

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