Variant report

Variant	rs74060265
Chromosome Location	chr14:70136934-70136935
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	chr14:70136257..70137815-chr14:70139917..70141830,2	K562	blood:
3	chr14:70136105..70138906-chr14:70160635..70163194,2	K562	blood:
4	chr14:70135430..70139006-chr14:70149542..70153148,4	MCF-7	breast:
5	chr14:70136281..70137907-chr14:70143055..70145458,2	MCF-7	breast:
6	chr14:70136816..70139269-chr14:70147791..70149415,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55634075	0.83[AFR][1000 genomes]
rs56762756	1.00[AFR][1000 genomes]
rs58365129	0.90[AFR][1000 genomes]
rs61389585	0.83[AFR][1000 genomes]
rs61710255	0.83[AFR][1000 genomes]
rs74060260	0.83[AFR][1000 genomes]
rs74060266	0.83[AFR][1000 genomes]
rs74060268	0.83[AFR][1000 genomes]
rs74060273	0.83[AFR][1000 genomes]
rs74060275	1.00[AFR][1000 genomes]
rs74060276	0.83[AFR][1000 genomes]
rs74060279	0.83[AFR][1000 genomes]
rs74060287	0.83[AFR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70123800-70137600	Weak transcription	Dnd41	blood
3	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:70128400-70138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70128400-70138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:70128600-70137800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:70129000-70137000	Enhancers	Small Intestine	intestine
10	chr14:70129800-70138200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:70130000-70138000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:70130000-70148800	Weak transcription	NHEK	skin
13	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:70130400-70138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:70130400-70139200	Weak transcription	Gastric	stomach
16	chr14:70131000-70139400	Weak transcription	Thymus	Thymus
17	chr14:70132200-70137400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:70132400-70137400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:70133000-70137000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:70133000-70137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:70133600-70137200	Genic enhancers	Primary B cells from cord blood	blood
22	chr14:70133600-70143400	Enhancers	Fetal Thymus	thymus
23	chr14:70133800-70144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:70134000-70137000	Weak transcription	HepG2	liver
26	chr14:70134000-70137000	Weak transcription	K562	blood
27	chr14:70134000-70137200	Weak transcription	HSMMtube	muscle
28	chr14:70134000-70137400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:70134000-70137800	Weak transcription	HMEC	breast
30	chr14:70134000-70138200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:70134000-70139200	Weak transcription	Ovary	ovary
32	chr14:70134000-70140200	Weak transcription	Osteobl	bone
33	chr14:70134000-70140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:70134400-70137400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:70134800-70137000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr14:70134800-70137000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:70134800-70137200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:70134800-70138000	Weak transcription	Esophagus	oesophagus
40	chr14:70134800-70140400	Weak transcription	Fetal Lung	lung
41	chr14:70134800-70143600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr14:70134800-70143600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr14:70135000-70137200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:70135000-70137400	Enhancers	Primary T cells from cord blood	blood
45	chr14:70135000-70137400	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:70135000-70138000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:70135000-70138200	Weak transcription	Brain Substantia Nigra	brain
48	chr14:70135000-70138600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:70135000-70139200	Weak transcription	Placenta	Placenta
50	chr14:70135000-70139200	Weak transcription	Rectal Mucosa Donor 29	rectum

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