Variant report

Variant	rs697434
Chromosome Location	chr19:38426621-38426622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:
2	chr19:38424879..38427033-chr19:38465266..38467452,2	MCF-7	breast:
3	chr19:38426351..38429541-chr19:38429679..38432396,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10401880	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10420417	0.81[EUR][1000 genomes]
rs1421676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1421677	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2305105	0.87[EUR][1000 genomes]
rs2382623	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4802150	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803525	0.87[EUR][1000 genomes]
rs6508753	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs705496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs705497	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7257190	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7257688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8105305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8108245	0.87[EUR][1000 genomes]
rs833917	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs941038	0.84[EUR][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1820125	chr19:38424904-38427984	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:38423000-38438200	Weak transcription	Brain Angular Gyrus	brain
4	chr19:38423200-38443000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:38423400-38427600	Enhancers	Liver	Liver
6	chr19:38423400-38433800	Weak transcription	Thymus	Thymus
7	chr19:38423600-38444400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:38424400-38426800	Weak transcription	Fetal Brain Female	brain
9	chr19:38424400-38427000	Enhancers	Gastric	stomach
10	chr19:38424400-38428000	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr19:38424600-38429600	ZNF genes & repeats	GM12878-XiMat	blood
12	chr19:38424600-38438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:38424600-38439200	Weak transcription	Spleen	Spleen
14	chr19:38424800-38427200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr19:38424800-38428000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:38424800-38444000	Weak transcription	NHDF-Ad	bronchial
17	chr19:38425000-38429000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:38425000-38431200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:38425000-38431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:38425000-38432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:38425000-38438400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:38425000-38441000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:38425000-38454000	Weak transcription	HSMMtube	muscle
24	chr19:38425200-38436000	Enhancers	Stomach Mucosa	stomach
25	chr19:38425400-38427800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr19:38425400-38430200	ZNF genes & repeats	A549	lung
27	chr19:38425600-38426800	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr19:38425800-38427000	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr19:38425800-38429600	Enhancers	Fetal Intestine Large	intestine
30	chr19:38425800-38430600	Weak transcription	Small Intestine	intestine
31	chr19:38426000-38426800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr19:38426000-38426800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:38426000-38426800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr19:38426000-38426800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr19:38426000-38426800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:38426000-38426800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr19:38426000-38426800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:38426000-38427000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr19:38426000-38427000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:38426000-38427000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:38426000-38427000	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr19:38426000-38427000	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr19:38426000-38427000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:38426000-38427000	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr19:38426000-38427000	ZNF genes & repeats	Fetal Stomach	stomach
46	chr19:38426000-38427000	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr19:38426000-38427000	ZNF genes & repeats	HSMM	muscle
48	chr19:38426000-38427200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr19:38426000-38427200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:38426000-38427200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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