Variant report

Variant	rs10047848
Chromosome Location	chr14:70138630-70138631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70128380..70130594-chr14:70135928..70138718,3	MCF-7	breast:
2	chr14:70136105..70138906-chr14:70160635..70163194,2	K562	blood:
3	chr14:70135430..70139006-chr14:70149542..70153148,4	MCF-7	breast:
4	chr14:70124277..70126417-chr14:70138561..70141112,2	MCF-7	breast:
5	chr14:70136816..70139269-chr14:70147791..70149415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130124	1.00[EUR][1000 genomes]
rs10131362	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137013	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10137162	1.00[EUR][1000 genomes]
rs10138453	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140437	0.89[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144038	1.00[EUR][1000 genomes]
rs10146486	1.00[EUR][1000 genomes]
rs10148264	1.00[ASW][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148957	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149936	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150246	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151989	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220277	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11847514	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1275744	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435330	1.00[EUR][1000 genomes]
rs28445972	1.00[EUR][1000 genomes]
rs28524787	1.00[EUR][1000 genomes]
rs28538272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28633309	1.00[EUR][1000 genomes]
rs28671429	1.00[EUR][1000 genomes]
rs28757382	1.00[EUR][1000 genomes]
rs28758769	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs28879830	1.00[EUR][1000 genomes]
rs7154537	1.00[EUR][1000 genomes]
rs9805962	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:70130000-70148800	Weak transcription	NHEK	skin
5	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:70130400-70139200	Weak transcription	Gastric	stomach
7	chr14:70131000-70139400	Weak transcription	Thymus	Thymus
8	chr14:70133600-70143400	Enhancers	Fetal Thymus	thymus
9	chr14:70133800-70144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:70134000-70139200	Weak transcription	Ovary	ovary
12	chr14:70134000-70140200	Weak transcription	Osteobl	bone
13	chr14:70134000-70140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:70134800-70140400	Weak transcription	Fetal Lung	lung
16	chr14:70134800-70143600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr14:70134800-70143600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:70135000-70139200	Weak transcription	Placenta	Placenta
19	chr14:70135000-70139200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:70135000-70139800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:70135000-70140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:70135000-70143800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:70135800-70139000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:70135800-70142800	Enhancers	Right Ventricle	heart
25	chr14:70136000-70140400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:70136000-70140600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:70136000-70143000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:70136000-70143800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr14:70136000-70144000	Enhancers	Psoas Muscle	Psoas
30	chr14:70136200-70140200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:70136200-70140400	Enhancers	Adipose Nuclei	Adipose
32	chr14:70136200-70143000	Enhancers	Brain Hippocampus Middle	brain
33	chr14:70136200-70143800	Enhancers	Left Ventricle	heart
34	chr14:70136400-70142200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:70136400-70142400	Enhancers	Brain Anterior Caudate	brain
36	chr14:70136600-70143000	Enhancers	Pancreas	Pancrea
37	chr14:70136600-70143000	Enhancers	Right Atrium	heart
38	chr14:70136800-70140600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:70137000-70138800	Weak transcription	Small Intestine	intestine
40	chr14:70137000-70139000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:70137000-70139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:70137000-70139800	Weak transcription	Fetal Intestine Large	intestine
43	chr14:70137200-70139000	Weak transcription	Stomach Mucosa	stomach
44	chr14:70137200-70139200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:70137200-70141200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:70137200-70148800	Weak transcription	K562	blood
47	chr14:70137400-70141800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:70137400-70142600	Enhancers	Fetal Muscle Leg	muscle
49	chr14:70137600-70138800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:70137600-70139200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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