Variant report

Variant	rs2384989
Chromosome Location	chr19:18379549-18379550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18375043..18380039-chr19:18389478..18393263,5	MCF-7	breast:
2	chr19:18374800..18379713-chr19:18383305..18387189,5	MCF-7	breast:
3	chr19:18368439..18371351-chr19:18378949..18380455,2	MCF-7	breast:
4	chr19:18379148..18381660-chr19:18389810..18392535,2	MCF-7	breast:
5	chr19:18334732..18336405-chr19:18377227..18379773,2	K562	blood:

Variant related genes	Relation type
ENSG00000267959	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130518	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1035363	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1079165	0.80[EUR][1000 genomes]
rs11086099	0.88[ASN][1000 genomes]
rs12459276	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12460547	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12461561	0.88[ASN][1000 genomes]
rs12608744	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12608843	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12608869	0.89[ASN][1000 genomes]
rs1477269	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1477271	0.83[ASN][1000 genomes]
rs2287656	0.89[ASN][1000 genomes]
rs2287657	0.91[ASN][1000 genomes]
rs35768432	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3810432	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3810433	0.94[ASN][1000 genomes]
rs3810434	0.94[ASN][1000 genomes]
rs4808776	0.90[ASN][1000 genomes]
rs57090641	0.81[EUR][1000 genomes]
rs58555271	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60452015	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60609985	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62120402	0.89[ASN][1000 genomes]
rs72479531	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73523118	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73523119	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8105176	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105503	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109771	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8113654	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9710173	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9710599	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs999814	0.93[ASN][1000 genomes]
rs999815	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
6	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
7	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
10	nsv911267	chr19:18351674-18386798	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
12	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
13	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
14	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
15	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
16	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
17	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2384989	KIAA1683	cis	Adipose Subcutaneous	GTEx
rs2384989	KIAA1683	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18348600-18385200	Weak transcription	Right Atrium	heart
2	chr19:18366400-18389400	Weak transcription	Fetal Brain Male	brain
3	chr19:18366600-18385400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18366600-18385800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:18366600-18390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:18367600-18380400	Strong transcription	Fetal Muscle Leg	muscle
7	chr19:18367600-18381600	Strong transcription	Fetal Intestine Small	intestine
8	chr19:18367800-18380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:18369600-18380400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr19:18371000-18385400	Weak transcription	HSMMtube	muscle
11	chr19:18372200-18380400	Strong transcription	Ovary	ovary
12	chr19:18372400-18379800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:18373200-18380400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr19:18373400-18379800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:18373400-18380400	Strong transcription	Brain Anterior Caudate	brain
16	chr19:18373400-18380400	Strong transcription	Fetal Brain Female	brain
17	chr19:18373400-18380400	Strong transcription	Fetal Intestine Large	intestine
18	chr19:18373400-18380400	Strong transcription	Lung	lung
19	chr19:18373400-18380800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:18373600-18380600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:18373800-18380400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:18373800-18380400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr19:18374000-18379800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:18374400-18380200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:18374600-18379600	Strong transcription	Brain Hippocampus Middle	brain
26	chr19:18374600-18380400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:18374600-18380400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:18374600-18381600	Strong transcription	Fetal Stomach	stomach
29	chr19:18374600-18383600	Weak transcription	A549	lung
30	chr19:18374600-18388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:18374800-18380400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:18374800-18385200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:18375000-18379600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:18375000-18379800	Strong transcription	Pancreas	Pancrea
35	chr19:18375000-18380000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:18375000-18380000	Strong transcription	Adipose Nuclei	Adipose
37	chr19:18375000-18380400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:18375000-18380400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:18375000-18388200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:18375200-18379600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:18375400-18379600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:18375400-18380000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:18375400-18380400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr19:18375400-18380400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:18375600-18380400	Strong transcription	Brain Substantia Nigra	brain
46	chr19:18375600-18386000	Weak transcription	Fetal Kidney	kidney
47	chr19:18376200-18386400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:18376400-18384600	Weak transcription	Small Intestine	intestine
49	chr19:18376400-18384800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:18376600-18380600	Strong transcription	NHDF-Ad	bronchial

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