Variant report

Variant	rs7257838
Chromosome Location	chr19:38460797-38460798
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38455932..38458635-chr19:38458979..38461344,2	MCF-7	breast:
2	chr19:38459331..38461760-chr19:38470604..38472306,2	MCF-7	breast:
3	chr19:38421858..38424190-chr19:38460757..38462357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	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];0.85[ASN][1000 genomes]
rs62120128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62120129	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62120130	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62120131	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62120132	0.91[ASN][1000 genomes]
rs7258680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38454400-38460800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:38454400-38461200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:38454600-38460800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr19:38454600-38461000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr19:38455200-38461400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:38456000-38461000	Weak transcription	Fetal Stomach	stomach
7	chr19:38456600-38460800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr19:38457200-38461200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:38457200-38470400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:38457400-38461000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:38457600-38461000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:38457600-38461000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:38457600-38461200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:38457600-38461200	Weak transcription	NHDF-Ad	bronchial
15	chr19:38457600-38470200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:38457600-38470400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:38457600-38470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:38457800-38461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:38457800-38461000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:38457800-38461000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:38457800-38461000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:38457800-38461000	Weak transcription	Spleen	Spleen
23	chr19:38457800-38461200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:38457800-38461200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:38457800-38461200	Weak transcription	Colonic Mucosa	Colon
26	chr19:38457800-38461200	Weak transcription	Gastric	stomach
27	chr19:38457800-38461400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr19:38457800-38468200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:38457800-38468400	Weak transcription	NH-A	brain
30	chr19:38458000-38460800	Weak transcription	Primary B cells from cord blood	blood
31	chr19:38458000-38461000	Weak transcription	Fetal Intestine Large	intestine
32	chr19:38458000-38461000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:38458200-38461200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:38458200-38468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:38458400-38461000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:38458400-38461000	Weak transcription	Osteobl	bone
37	chr19:38458400-38461200	Weak transcription	HepG2	liver
38	chr19:38459000-38464800	ZNF genes & repeats	A549	lung
39	chr19:38459200-38463400	ZNF genes & repeats	GM12878-XiMat	blood
40	chr19:38459400-38463800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:38459600-38461200	Weak transcription	HSMM	muscle
42	chr19:38460200-38461000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:38460200-38461400	Enhancers	NHEK	skin
44	chr19:38460200-38461600	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr19:38460200-38463800	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr19:38460400-38461200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr19:38460400-38461400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:38460400-38461800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr19:38460400-38462200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr19:38460400-38463800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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