Variant report

Variant	rs10427104
Chromosome Location	chr19:20347572-20347573
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10402115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10402155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10402722	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10404469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10404767	0.85[YRI][hapmap]
rs10405110	1.00[AMR][1000 genomes]
rs10406552	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408168	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408369	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412042	1.00[AMR][1000 genomes]
rs10413166	1.00[AMR][1000 genomes]
rs10414005	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414093	1.00[AMR][1000 genomes]
rs10414627	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10416696	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10417651	1.00[AMR][1000 genomes]
rs10419576	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10420381	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421160	1.00[AMR][1000 genomes]
rs10421320	1.00[AMR][1000 genomes]
rs10422287	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422539	0.86[AFR][1000 genomes]
rs10424101	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10424275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13343888	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13344384	1.00[AMR][1000 genomes]
rs13344637	0.90[AFR][1000 genomes]
rs13345082	0.85[YRI][hapmap]
rs2017452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28402094	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28514435	1.00[AMR][1000 genomes]
rs28526012	1.00[AMR][1000 genomes]
rs28690849	1.00[AMR][1000 genomes]
rs28767893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28828686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59440664	1.00[AMR][1000 genomes]
rs9917066	1.00[AMR][1000 genomes]
rs9967629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
6	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	nsv870354	chr19:20043821-20576175	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1066004	chr19:20053658-20592867	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
10	nsv543932	chr19:20053658-20592867	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
11	nsv1066564	chr19:20056348-20595412	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
12	nsv1066375	chr19:20061084-20574512	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
13	nsv543934	chr19:20061084-20574512	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1057309	chr19:20072886-20595412	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
15	nsv578801	chr19:20084681-20595412	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
16	nsv1055694	chr19:20088866-20595412	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
17	nsv578802	chr19:20091702-20595412	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
18	nsv1064400	chr19:20101052-20595412	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers 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	33 gene(s)	inside rSNPs	diseases
19	nsv911325	chr19:20151257-21071548	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
20	nsv1066014	chr19:20165112-20595412	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20319600-20348200	Weak transcription	Fetal Lung	lung
2	chr19:20324800-20348400	Weak transcription	NHLF	lung
3	chr19:20325600-20348200	Weak transcription	Right Ventricle	heart
4	chr19:20326800-20348400	Weak transcription	Ovary	ovary
5	chr19:20336000-20348000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:20336600-20348400	Weak transcription	Thymus	Thymus
7	chr19:20338600-20348400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:20339600-20348200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr19:20341400-20347600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:20341400-20348000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:20341600-20347600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:20341600-20347800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:20341800-20347600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:20342200-20348000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:20342400-20348400	Weak transcription	Left Ventricle	heart
16	chr19:20342800-20348000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:20343200-20348200	Weak transcription	Fetal Stomach	stomach
18	chr19:20343800-20348400	Weak transcription	Colonic Mucosa	Colon
19	chr19:20344200-20348200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:20344600-20348400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:20344600-20348400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:20344800-20348000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:20344800-20348400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:20344800-20348600	Weak transcription	Stomach Mucosa	stomach
25	chr19:20345000-20348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:20345800-20347600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr19:20345800-20348000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:20345800-20348000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:20345800-20348400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:20346000-20348400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:20346200-20348200	Weak transcription	Fetal Brain Female	brain
32	chr19:20346600-20348200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:20346600-20348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr19:20346800-20347800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
35	chr19:20347000-20347800	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:20347000-20348000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
37	chr19:20347000-20348400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:20347000-20348800	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr19:20347200-20347800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
40	chr19:20347200-20347800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
41	chr19:20347200-20347800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr19:20347400-20348000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
43	chr19:20347400-20348000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:20347400-20348200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:20347400-20348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:20347400-20348400	Weak transcription	Primary B cells from cord blood	blood
47	chr19:20347400-20348400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:20347400-20348800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:20347400-20349200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr19:20347400-20349400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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