Variant report

Variant	rs7251638
Chromosome Location	chr19:42944965-42944966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42944402..42946255-chr19:42946762..42949162,2	MCF-7	breast:
2	chr19:42612633..42613326-chr19:42943887..42945182,4	MCF-7	breast:
3	chr19:42612391..42613298-chr19:42944161..42945178,7	K562	blood:
4	chr19:42611988..42612944-chr19:42944219..42945249,3	MCF-7	breast:
5	chr19:42944641..42946471-chr19:42946683..42948595,2	K562	blood:

Variant related genes	Relation type
ENSG00000189377	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10402245	1.00[TSI][hapmap]
rs10405410	1.00[TSI][hapmap]
rs10405891	1.00[EUR][1000 genomes]
rs10411253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414969	1.00[EUR][1000 genomes]
rs10416062	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417560	1.00[EUR][1000 genomes]
rs10422000	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423047	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425139	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880554	1.00[TSI][hapmap]
rs13345659	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16975743	1.00[EUR][1000 genomes]
rs16975750	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16975751	1.00[YRI][hapmap]
rs16975799	1.00[TSI][hapmap]
rs28448880	1.00[EUR][1000 genomes]
rs28514561	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35623577	1.00[EUR][1000 genomes]
rs6509015	1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs6509019	1.00[TSI][hapmap]
rs7245385	0.86[ASW][hapmap];0.89[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7248439	1.00[EUR][1000 genomes]
rs7252470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254369	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs7254839	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255015	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556352	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556356	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100511	0.81[YRI][hapmap]
rs8102976	1.00[ASW][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8103051	0.81[YRI][hapmap]
rs8103108	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105525	1.00[TSI][hapmap]

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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:42937800-42945000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:42938000-42945200	Weak transcription	Fetal Stomach	stomach
4	chr19:42938000-42946200	Enhancers	Adipose Nuclei	Adipose
5	chr19:42938000-42946800	Weak transcription	Right Ventricle	heart
6	chr19:42938000-42950200	Weak transcription	Gastric	stomach
7	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:42943200-42945000	Weak transcription	Small Intestine	intestine
9	chr19:42943200-42947400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:42944400-42945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:42944400-42945000	Enhancers	Primary B cells from peripheral blood	blood
12	chr19:42944400-42945600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:42944400-42945800	Enhancers	Duodenum Mucosa	Duodenum
14	chr19:42944400-42946000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:42944400-42946000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr19:42944400-42946000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:42944400-42946200	Enhancers	Primary hematopoietic stem cells	blood
18	chr19:42944400-42946800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:42944400-42947000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr19:42944400-42947000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:42944400-42947000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr19:42944400-42947000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr19:42944600-42945000	Enhancers	Brain Cingulate Gyrus	brain
24	chr19:42944600-42945000	Enhancers	Fetal Muscle Leg	muscle
25	chr19:42944600-42945200	Enhancers	Primary T cells from cord blood	blood
26	chr19:42944600-42945200	Enhancers	Brain Anterior Caudate	brain
27	chr19:42944600-42945400	Enhancers	Liver	Liver
28	chr19:42944600-42945600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:42944600-42945600	Flanking Active TSS	HepG2	liver
30	chr19:42944600-42945800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr19:42944600-42945800	Enhancers	Fetal Intestine Small	intestine
32	chr19:42944600-42945800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr19:42944600-42946000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr19:42944600-42946000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:42944600-42946200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:42944600-42947200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:42944600-42947400	Enhancers	Primary B cells from cord blood	blood
38	chr19:42944600-42947600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr19:42944800-42945000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr19:42944800-42945000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:42944800-42945000	Enhancers	Brain Hippocampus Middle	brain
42	chr19:42944800-42945000	Flanking Active TSS	A549	lung
43	chr19:42944800-42945000	Active TSS	Osteobl	bone
44	chr19:42944800-42945200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr19:42944800-42945200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:42944800-42945400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:42944800-42945400	Enhancers	Colonic Mucosa	Colon
48	chr19:42944800-42945400	Enhancers	Left Ventricle	heart
49	chr19:42944800-42945600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:42944800-42945600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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