Variant report

Variant	rs73034621
Chromosome Location	chr19:39183779-39183780
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	chr19:39183521..39187102-chr19:39327849..39329398,3	MCF-7	breast:
2	chr19:39181974..39184740-chr19:39331353..39332941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11553600	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052046	1.00[ASN][1000 genomes]
rs17589415	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665451	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368476	0.89[AFR][1000 genomes]
rs41482151	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45468197	0.80[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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802775	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67438539	0.94[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	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038909	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038918	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038924	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038930	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038932	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73038936	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038948	0.83[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	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182484	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888995	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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

No data

Chromatin state (count:124 , 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	chr19:39164800-39183800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:39177200-39195000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:39178600-39187800	Enhancers	Left Ventricle	heart
5	chr19:39178600-39190600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr19:39178600-39198200	Genic enhancers	Fetal Intestine Large	intestine
7	chr19:39179000-39189400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:39179400-39184400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr19:39179600-39205800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr19:39179800-39183800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:39180000-39183800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:39180000-39184800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:39180000-39186000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:39180000-39191600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:39180000-39192400	Genic enhancers	Lung	lung
16	chr19:39180200-39183800	Weak transcription	Hela-S3	cervix
17	chr19:39180600-39183800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:39180600-39185000	Enhancers	NHDF-Ad	bronchial
19	chr19:39180800-39183800	Enhancers	HUVEC	blood vessel
20	chr19:39180800-39184800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr19:39180800-39185000	Enhancers	Pancreas	Pancrea
22	chr19:39180800-39187000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr19:39181000-39183800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr19:39181000-39183800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:39181000-39184200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr19:39181000-39186600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr19:39181400-39186800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr19:39181600-39183800	Enhancers	Brain Anterior Caudate	brain
29	chr19:39181600-39184800	Enhancers	Brain Substantia Nigra	brain
30	chr19:39181800-39186400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr19:39182000-39185600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr19:39182000-39194200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr19:39182200-39184000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr19:39182200-39187800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:39182200-39192600	Enhancers	Liver	Liver
36	chr19:39182200-39193400	Enhancers	Right Atrium	heart
37	chr19:39182200-39193800	Genic enhancers	Fetal Stomach	stomach
38	chr19:39182200-39214200	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr19:39182400-39183800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:39182400-39184000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:39182400-39184600	Genic enhancers	Fetal Lung	lung
43	chr19:39182400-39184800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr19:39182400-39184800	Genic enhancers	Gastric	stomach
45	chr19:39182400-39184800	Enhancers	Psoas Muscle	Psoas
46	chr19:39182400-39184800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr19:39182400-39186000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:39182400-39186600	Enhancers	Primary hematopoietic stem cells	blood
49	chr19:39182400-39187000	Enhancers	Stomach Mucosa	stomach
50	chr19:39182400-39189600	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links