Variant report

Variant	rs34242075
Chromosome Location	chr19:36715853-36715854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr19:36715835-36716594	SK-N-SH	brain:	n/a	chr19:36716011-36716018 chr19:36716011-36716018 chr19:36716011-36716018 chr19:36716294-36716304
2	POLR2A	chr19:36715834-36715868	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr19:36715747-36716469	HUVEC	blood vessel:	n/a	n/a
4	FOS	chr19:36715797-36716481	HUVEC	blood vessel:	n/a	n/a
5	GATA3	chr19:36715748-36716487	SK-N-SH	brain:	n/a	chr19:36716011-36716018 chr19:36716011-36716018 chr19:36716011-36716018 chr19:36716294-36716304

No.	Distal block	Cell Line	Cell type
1	chr19:36705638..36707650-chr19:36715342..36717503,2	MCF-7	breast:
2	chr19:36704753..36706948-chr19:36714660..36716433,3	K562	blood:
3	chr19:36713025..36717797-chr19:36719610..36723880,4	K562	blood:

Variant related genes	Relation type
ZNF146	TF binding region
ENSG00000196357	Chromatin interaction
ENSG00000167635	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12971293	0.82[EUR][1000 genomes]
rs12972727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12979040	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12979571	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12979812	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12981691	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12982577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12985315	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12985455	0.82[EUR][1000 genomes]
rs16960884	0.93[EUR][1000 genomes]
rs16970932	0.93[EUR][1000 genomes]
rs34072267	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34409006	0.84[EUR][1000 genomes]
rs34423559	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34521310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34527953	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34579456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35342321	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35394138	0.82[EUR][1000 genomes]
rs35747960	0.88[EUR][1000 genomes]
rs35813323	0.93[EUR][1000 genomes]
rs35927732	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35989746	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71354126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71354130	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7258851	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8104927	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36706800-36716400	Weak transcription	Aorta	Aorta
2	chr19:36707000-36716200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:36707000-36726800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36707400-36730200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:36707800-36716400	Weak transcription	Right Ventricle	heart
7	chr19:36707800-36717000	Weak transcription	HSMMtube	muscle
8	chr19:36708000-36716400	Weak transcription	Psoas Muscle	Psoas
9	chr19:36708000-36716800	Weak transcription	Pancreas	Pancrea
10	chr19:36708000-36719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:36708400-36716400	Weak transcription	Spleen	Spleen
13	chr19:36709000-36723000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:36709000-36723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:36709000-36724000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr19:36709200-36716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:36709200-36716000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:36709400-36723800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:36710000-36716000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr19:36710000-36725000	ZNF genes & repeats	GM12878-XiMat	blood
21	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
22	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:36710200-36720600	Strong transcription	Fetal Thymus	thymus
24	chr19:36710800-36719000	Weak transcription	Fetal Brain Male	brain
25	chr19:36710800-36719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:36710800-36721800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr19:36710800-36723200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:36711000-36723200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:36711000-36723400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:36711000-36724000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:36711200-36716400	Weak transcription	Esophagus	oesophagus
32	chr19:36711200-36728400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr19:36711600-36719400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36711800-36719400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:36711800-36725000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:36711800-36726600	Strong transcription	Fetal Muscle Leg	muscle
37	chr19:36713000-36730200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:36713200-36717000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:36713200-36719000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:36713400-36716400	Weak transcription	Small Intestine	intestine
41	chr19:36713400-36726600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr19:36713600-36716400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:36713600-36716800	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr19:36714000-36716000	Weak transcription	Primary B cells from cord blood	blood
45	chr19:36714000-36716000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:36714000-36716000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr19:36714000-36716000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:36714000-36716000	Weak transcription	Brain Anterior Caudate	brain
49	chr19:36714000-36716200	Weak transcription	HepG2	liver
50	chr19:36714000-36716600	Weak transcription	Colonic Mucosa	Colon

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