Variant report

Variant	rs10420353
Chromosome Location	chr19:36530332-36530333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36498583..36500890-chr19:36529481..36531890,2	MCF-7	breast:
2	chr19:36487172..36489365-chr19:36529262..36531412,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181392	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1003470	0.86[YRI][hapmap]
rs10407011	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10414679	0.81[ASN][1000 genomes]
rs10414877	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10418015	0.88[JPT][hapmap]
rs10421966	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423651	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10425692	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10426582	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs12462432	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12462632	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12462674	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12972490	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12976505	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12976812	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12977814	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12978482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12979093	0.98[ASN][1000 genomes]
rs12981654	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548505	0.85[YRI][hapmap]
rs17639286	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2023865	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2239510	0.96[CEU][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2301736	0.85[YRI][hapmap]
rs2311004	0.81[YRI][hapmap]
rs34906485	0.91[ASN][1000 genomes]
rs35125548	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35875194	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3826995	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4461192	0.82[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4805154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4805155	0.98[ASN][1000 genomes]
rs4806252	0.98[ASN][1000 genomes]
rs4806253	1.00[ASN][1000 genomes]
rs71337524	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs721542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7245762	0.82[CHB][hapmap]
rs7246292	0.85[YRI][hapmap]
rs7247057	0.88[JPT][hapmap]
rs7250448	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs7257383	0.82[CHB][hapmap]
rs7259592	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7260609	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8103569	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers 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 target site	26 gene(s)	inside rSNPs	diseases
6	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36506400-36544400	Weak transcription	GM12878-XiMat	blood
2	chr19:36506800-36532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:36507000-36532200	Weak transcription	Hela-S3	cervix
4	chr19:36508800-36532400	Weak transcription	NHEK	skin
5	chr19:36515400-36544600	Weak transcription	Pancreas	Pancrea
6	chr19:36516400-36532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:36518800-36532200	Weak transcription	A549	lung
8	chr19:36524000-36532000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:36524000-36532000	Weak transcription	Psoas Muscle	Psoas
10	chr19:36524000-36537000	Weak transcription	Small Intestine	intestine
11	chr19:36524200-36530400	Weak transcription	Colonic Mucosa	Colon
12	chr19:36524200-36531600	Weak transcription	Placenta	Placenta
13	chr19:36524200-36532000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:36524200-36532200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:36524200-36532200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:36524200-36532200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:36524200-36532200	Weak transcription	NHLF	lung
18	chr19:36524200-36532400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:36524200-36532400	Weak transcription	HSMMtube	muscle
20	chr19:36524200-36533200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:36524200-36543800	Weak transcription	Left Ventricle	heart
22	chr19:36524200-36544000	Weak transcription	Primary B cells from cord blood	blood
23	chr19:36524200-36544400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:36524200-36544400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:36524200-36544400	Weak transcription	Aorta	Aorta
26	chr19:36524400-36532200	Weak transcription	Fetal Kidney	kidney
27	chr19:36524400-36532200	Weak transcription	NHDF-Ad	bronchial
28	chr19:36524400-36532400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:36524400-36532400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:36524400-36532400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:36524400-36532400	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:36524400-36532400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:36524400-36533000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:36524400-36534800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:36524400-36535000	Weak transcription	Brain Angular Gyrus	brain
36	chr19:36524400-36537200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:36524400-36537200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:36524400-36543800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:36524400-36544000	Weak transcription	Fetal Lung	lung
40	chr19:36524600-36532600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:36524600-36537000	Weak transcription	Brain Anterior Caudate	brain
42	chr19:36524800-36530600	Weak transcription	Fetal Brain Female	brain
43	chr19:36525400-36533200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:36525600-36531800	Strong transcription	Fetal Stomach	stomach
45	chr19:36525800-36531000	Strong transcription	Fetal Muscle Leg	muscle
46	chr19:36526400-36544200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:36526600-36532200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:36526600-36532600	Weak transcription	Liver	Liver
49	chr19:36526600-36540200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:36526600-36544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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