Variant report

Variant	rs62120128
Chromosome Location	chr19:38457103-38457104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38396344..38398889-chr19:38454374..38457525,4	MCF-7	breast:
2	chr19:38455932..38458635-chr19:38458979..38461344,2	MCF-7	breast:
3	chr19:38395796..38398301-chr19:38456658..38458907,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs62110230	0.80[EUR][1000 genomes]
rs62110232	0.80[EUR][1000 genomes]
rs62112272	0.93[EUR][1000 genomes]
rs62112273	0.93[EUR][1000 genomes]
rs62112274	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112275	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112277	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112279	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112280	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112282	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112285	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62112286	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62112287	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112288	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112289	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62112291	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62120129	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62120130	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62120131	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62120132	0.85[ASN][1000 genomes]
rs7257838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7258680	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105754	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38453200-38457800	Genic enhancers	A549	lung
2	chr19:38454000-38458000	Weak transcription	Small Intestine	intestine
3	chr19:38454200-38457200	Weak transcription	Lung	lung
4	chr19:38454400-38460800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:38454400-38461200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:38454600-38460800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:38454600-38461000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr19:38454800-38459200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:38454800-38459200	Weak transcription	NHLF	lung
10	chr19:38455200-38459400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:38455200-38461400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:38456000-38461000	Weak transcription	Fetal Stomach	stomach
13	chr19:38456200-38459600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:38456400-38457200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr19:38456400-38457200	Enhancers	HSMMtube	muscle
16	chr19:38456400-38457400	Genic enhancers	GM12878-XiMat	blood
17	chr19:38456400-38457600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr19:38456400-38457600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:38456400-38457800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:38456400-38457800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:38456400-38457800	Enhancers	Brain Substantia Nigra	brain
22	chr19:38456400-38457800	Enhancers	Duodenum Mucosa	Duodenum
23	chr19:38456400-38457800	Enhancers	Placenta	Placenta
24	chr19:38456400-38457800	Enhancers	NH-A	brain
25	chr19:38456400-38458000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:38456400-38458200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:38456400-38458400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:38456400-38459200	Genic enhancers	Fetal Intestine Small	intestine
29	chr19:38456600-38457400	Strong transcription	Primary B cells from cord blood	blood
30	chr19:38456600-38457600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr19:38456600-38457600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:38456600-38457800	Strong transcription	Primary T cells from cord blood	blood
33	chr19:38456600-38457800	Enhancers	Brain Hippocampus Middle	brain
34	chr19:38456600-38458000	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr19:38456600-38458000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:38456600-38458000	Enhancers	Fetal Intestine Large	intestine
37	chr19:38456600-38460800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr19:38456800-38457200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr19:38456800-38457200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:38456800-38457200	Enhancers	Brain Cingulate Gyrus	brain
41	chr19:38456800-38457200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:38456800-38457200	Genic enhancers	Spleen	Spleen
43	chr19:38456800-38457200	Genic enhancers	HSMM	muscle
44	chr19:38456800-38457400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:38456800-38457400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr19:38456800-38457400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr19:38456800-38457400	Genic enhancers	Rectal Mucosa Donor 29	rectum
48	chr19:38456800-38457600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr19:38456800-38457600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:38456800-38457600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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