Variant report

Variant	rs73038909
Chromosome Location	chr19:39191544-39191545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39188109..39192959-chr19:39197820..39200400,6	MCF-7	breast:
2	chr19:39184438..39186099-chr19:39190948..39193871,2	MCF-7	breast:
3	chr19:39189791..39192031-chr19:39202045..39204236,3	MCF-7	breast:
4	chr19:39135966..39142009-chr19:39184894..39201240,23	MCF-7	breast:
5	chr19:39150956..39153225-chr19:39190082..39192763,2	MCF-7	breast:
6	chr19:39190667..39192655-chr19:39192887..39195518,3	MCF-7	breast:
7	chr19:39138276..39139843-chr19:39191000..39193657,2	MCF-7	breast:
8	chr19:39190500..39193880-chr19:39198148..39201069,3	MCF-7	breast:
9	chr19:39126238..39128898-chr19:39190173..39192471,2	K562	blood:
10	chr19:39166875..39169119-chr19:39190078..39191942,2	MCF-7	breast:
11	chr19:39176509..39181573-chr19:39186750..39192510,7	K562	blood:
12	chr19:39173031..39174983-chr19:39187946..39191555,3	MCF-7	breast:
13	chr19:39188988..39191568-chr19:39196773..39198284,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11553600	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052046	1.00[ASN][1000 genomes]
rs17589415	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665451	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41482151	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45468197	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616403	1.00[ASN][1000 genomes]
rs4802744	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802747	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802775	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67438539	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67953948	1.00[ASN][1000 genomes]
rs7258742	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032668	1.00[ASN][1000 genomes]
rs73032691	1.00[ASN][1000 genomes]
rs73032697	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034621	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038918	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038924	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038930	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038932	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73038936	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038948	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7351086	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103824	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182484	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888995	1.00[ASN][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	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
2	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
3	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39164400-39200200	Genic enhancers	Fetal Intestine Small	intestine
2	chr19:39177200-39195000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:39178600-39198200	Genic enhancers	Fetal Intestine Large	intestine
4	chr19:39179600-39205800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:39180000-39191600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:39180000-39192400	Genic enhancers	Lung	lung
7	chr19:39182000-39194200	Genic enhancers	Fetal Muscle Leg	muscle
8	chr19:39182200-39192600	Enhancers	Liver	Liver
9	chr19:39182200-39193400	Enhancers	Right Atrium	heart
10	chr19:39182200-39193800	Genic enhancers	Fetal Stomach	stomach
11	chr19:39182200-39214200	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr19:39182400-39193600	Genic enhancers	Esophagus	oesophagus
14	chr19:39182600-39193800	Genic enhancers	Rectal Mucosa Donor 31	rectum
15	chr19:39183000-39196600	Enhancers	Fetal Heart	heart
16	chr19:39184800-39205800	Genic enhancers	A549	lung
17	chr19:39185000-39193600	Genic enhancers	HSMM	muscle
18	chr19:39185200-39205800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:39185400-39192000	Strong transcription	Osteobl	bone
20	chr19:39185800-39192600	Genic enhancers	Gastric	stomach
21	chr19:39186400-39213400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr19:39187000-39192400	Genic enhancers	Rectal Mucosa Donor 29	rectum
23	chr19:39187000-39196600	Weak transcription	Psoas Muscle	Psoas
24	chr19:39187200-39194600	Genic enhancers	Brain Inferior Temporal Lobe	brain
25	chr19:39187200-39195000	Genic enhancers	Pancreas	Pancrea
26	chr19:39187200-39201200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr19:39187200-39205800	Genic enhancers	Right Ventricle	heart
28	chr19:39187800-39195000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:39187800-39198600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:39188200-39191600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:39188200-39193400	Enhancers	Ovary	ovary
32	chr19:39188400-39194800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:39188800-39191600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:39188800-39192800	Weak transcription	Thymus	Thymus
35	chr19:39189400-39193200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:39189400-39194800	Weak transcription	Fetal Brain Male	brain
37	chr19:39189400-39223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:39189600-39196000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:39189800-39198200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:39189800-39222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:39190000-39193000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:39190000-39194600	Weak transcription	Fetal Kidney	kidney
43	chr19:39190000-39203800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr19:39190000-39205800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:39190000-39208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:39190000-39218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:39190200-39222600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr19:39190200-39222800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:39190400-39191800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr19:39190400-39192200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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