Variant report

Variant	rs73032697
Chromosome Location	chr19:39163197-39163198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39160838..39163402-chr19:39174691..39176835,2	MCF-7	breast:
2	chr19:39154116..39156228-chr19:39162782..39165101,2	K562	blood:
3	chr19:39161055..39163275-chr19:39172924..39175598,3	K562	blood:
4	chr19:39161163..39163302-chr19:39198153..39200836,2	K562	blood:

Variant related genes	Relation type
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11553600	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052046	1.00[ASN][1000 genomes]
rs17589415	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41482151	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45468197	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616403	1.00[ASN][1000 genomes]
rs4802744	1.00[ASN][1000 genomes]
rs4802747	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802775	1.00[ASN][1000 genomes]
rs67438539	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67953948	1.00[ASN][1000 genomes]
rs7258742	1.00[ASN][1000 genomes]
rs73032668	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73032691	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73034621	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038909	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038918	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038924	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038930	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038932	0.90[EUR][1000 genomes]
rs73038936	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038948	1.00[ASN][1000 genomes]
rs7351086	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103824	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888995	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	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
5	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39152600-39164000	Enhancers	Liver	Liver
2	chr19:39155200-39163800	Genic enhancers	NHEK	skin
3	chr19:39156600-39164800	Enhancers	Fetal Heart	heart
4	chr19:39158800-39167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:39159000-39165000	Weak transcription	Hela-S3	cervix
6	chr19:39159000-39166600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:39159000-39166800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:39159600-39169600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:39160400-39173400	Weak transcription	Brain Germinal Matrix	brain
10	chr19:39160600-39165200	Weak transcription	Dnd41	blood
11	chr19:39160800-39163200	Enhancers	Ovary	ovary
12	chr19:39161000-39163800	Enhancers	Fetal Muscle Leg	muscle
13	chr19:39161000-39164600	Weak transcription	GM12878-XiMat	blood
14	chr19:39161000-39164800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:39161000-39166800	Weak transcription	Primary T cells from cord blood	blood
16	chr19:39161200-39163200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:39161200-39163400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:39161200-39163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:39161200-39163600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:39161200-39163600	Weak transcription	Lung	lung
21	chr19:39161200-39164000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr19:39161200-39164600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr19:39161200-39164800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:39161200-39164800	Weak transcription	Esophagus	oesophagus
25	chr19:39161200-39164800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:39161200-39165000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:39161200-39166000	Weak transcription	Primary B cells from cord blood	blood
28	chr19:39161200-39176000	Weak transcription	Fetal Brain Male	brain
29	chr19:39161200-39176000	Weak transcription	Fetal Brain Female	brain
30	chr19:39161600-39164600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:39161600-39164800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:39161800-39164800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr19:39161800-39164800	Weak transcription	NHLF	lung
34	chr19:39161800-39165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:39162000-39164800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:39162000-39165000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:39162000-39165400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:39162200-39163600	Weak transcription	Spleen	Spleen
39	chr19:39162200-39164800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:39162200-39164800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:39162200-39165400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:39162200-39173400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:39162400-39165200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:39162400-39165400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:39162400-39172000	Enhancers	Left Ventricle	heart
46	chr19:39162600-39163600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:39162600-39164600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:39162600-39164600	Weak transcription	HMEC	breast
49	chr19:39162600-39164800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:39162600-39164800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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