Variant report

Variant	rs10130174
Chromosome Location	chr14:70249309-70249310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70248146..70250325-chr14:70255541..70258035,3	MCF-7	breast:
2	chr14:70248801..70250348-chr14:70516038..70518090,2	K562	blood:
3	chr14:70248266..70250866-chr14:70262587..70264942,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100652	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10130926	0.89[AFR][1000 genomes]
rs10134553	0.84[YRI][hapmap];0.95[AFR][1000 genomes]
rs10145643	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623504	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs11626135	0.91[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626930	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628140	0.90[EUR][1000 genomes]
rs11628646	1.00[CEU][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11628755	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629222	0.94[EUR][1000 genomes]
rs12431918	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12434311	0.96[EUR][1000 genomes]
rs12434937	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107278	0.83[YRI][hapmap];0.96[AFR][1000 genomes]
rs17107282	1.00[CEU][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332166	0.85[AFR][1000 genomes]
rs28488181	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595072	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2877596	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340264	0.87[EUR][1000 genomes]
rs4341691	0.83[EUR][1000 genomes]
rs45527638	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063215	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56154784	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982074	0.90[EUR][1000 genomes]
rs61982101	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982104	0.94[EUR][1000 genomes]
rs61982105	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982106	0.96[EUR][1000 genomes]
rs61982107	0.93[EUR][1000 genomes]
rs7159823	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs72725721	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725750	0.96[EUR][1000 genomes]
rs8013586	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014019	0.96[AFR][1000 genomes]
rs8014462	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs8018389	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8019166	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020042	0.91[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323529	0.83[YRI][hapmap];0.96[AFR][1000 genomes]
rs943276	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943277	0.91[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70236600-70249400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:70237000-70253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70237600-70253400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:70238200-70263600	Weak transcription	Stomach Mucosa	stomach
5	chr14:70238400-70254600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:70241000-70256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:70241200-70251600	Weak transcription	Colonic Mucosa	Colon
8	chr14:70244200-70253400	Strong transcription	Brain Anterior Caudate	brain
9	chr14:70244800-70250000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:70245400-70249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:70245400-70250000	Weak transcription	Dnd41	blood
12	chr14:70245400-70250600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:70245400-70255000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:70245400-70256000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:70245600-70249400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:70245600-70250000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:70245600-70254600	Weak transcription	Fetal Kidney	kidney
18	chr14:70245600-70255000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:70245600-70257400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:70245800-70254200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:70245800-70256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:70246000-70249400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:70246000-70249600	Weak transcription	Small Intestine	intestine
24	chr14:70246000-70252800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:70246000-70254800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:70246200-70250800	Weak transcription	Spleen	Spleen
27	chr14:70246200-70251400	Weak transcription	GM12878-XiMat	blood
28	chr14:70246200-70251800	Weak transcription	Gastric	stomach
29	chr14:70246200-70251800	Weak transcription	Pancreas	Pancrea
30	chr14:70246200-70252800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:70246200-70252800	Weak transcription	Aorta	Aorta
32	chr14:70246200-70253000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:70246200-70253400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:70246200-70254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:70246200-70255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:70246200-70258400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:70246200-70259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:70246400-70250600	Strong transcription	Placenta	Placenta
39	chr14:70246400-70251600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:70246400-70251600	Weak transcription	Fetal Stomach	stomach
41	chr14:70246400-70252600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr14:70246400-70253000	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:70246400-70261800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:70246400-70264000	Weak transcription	Fetal Intestine Small	intestine
45	chr14:70246600-70250200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:70246600-70252800	Weak transcription	Adipose Nuclei	Adipose
47	chr14:70246600-70252800	Weak transcription	NHEK	skin
48	chr14:70246600-70256800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:70246600-70256800	Weak transcription	HSMMtube	muscle
50	chr14:70246800-70252800	Weak transcription	Primary hematopoietic stem cells	blood

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