Variant report

Variant	rs194742
Chromosome Location	chr14:69287483-69287484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69283985..69288405-chr14:69289661..69293345,5	K562	blood:
2	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
3	chr14:69281839..69285044-chr14:69286277..69289446,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10139199	0.89[YRI][hapmap]
rs12587831	0.85[EUR][1000 genomes]
rs12590165	0.85[EUR][1000 genomes]
rs1274955	0.95[AFR][1000 genomes]
rs1898320	0.82[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs194732	0.83[ASW][hapmap];0.83[CEU][hapmap];0.92[GIH][hapmap];0.82[YRI][hapmap]
rs194743	0.93[AFR][1000 genomes]
rs194745	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs4899260	0.89[YRI][hapmap]
rs72731567	0.93[EUR][1000 genomes]
rs72731576	0.92[EUR][1000 genomes]
rs72731577	0.92[EUR][1000 genomes]
rs72731581	0.92[EUR][1000 genomes]
rs72731585	0.93[EUR][1000 genomes]
rs72731587	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs194742	RAD51L1	cis	parietal	SCAN
rs194742	ZBTB1	cis	cerebellum	SCAN
rs194742	KIAA0247	cis	parietal	SCAN
rs194742	Hs.304334	cis	multi-tissue	Pritchard

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69283600-69289600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:69283800-69289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:69283800-69289600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr14:69283800-69291200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:69284000-69289600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:69284000-69291200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:69284000-69291200	Weak transcription	Right Atrium	heart
8	chr14:69284000-69291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:69284000-69291400	Weak transcription	HSMM	muscle
10	chr14:69284000-69300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:69284200-69291400	Weak transcription	Osteobl	bone
12	chr14:69284200-69305600	Weak transcription	HSMMtube	muscle
13	chr14:69284400-69291200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:69284400-69291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:69284600-69291200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:69284800-69289800	Weak transcription	Pancreas	Pancrea
17	chr14:69285200-69288200	Enhancers	Primary T cells from cord blood	blood
18	chr14:69285200-69291800	Enhancers	Fetal Muscle Leg	muscle
19	chr14:69285400-69288000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:69285400-69288200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:69285400-69289600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:69285800-69288000	Enhancers	Placenta	Placenta
23	chr14:69285800-69288200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:69285800-69288200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:69285800-69288800	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:69285800-69289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr14:69285800-69290000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:69285800-69290000	Enhancers	Fetal Thymus	thymus
29	chr14:69286000-69287600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:69286000-69288000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:69286000-69288600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:69286000-69288800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:69286000-69289200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr14:69286000-69289600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:69286000-69291400	Weak transcription	NHDF-Ad	bronchial
36	chr14:69286000-69291800	Enhancers	Fetal Muscle Trunk	muscle
37	chr14:69286200-69287800	Enhancers	Thymus	Thymus
38	chr14:69286200-69288000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:69286200-69288400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:69286200-69289200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr14:69286200-69289600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:69286200-69289800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:69286400-69288400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:69286400-69289000	Enhancers	Stomach Smooth Muscle	stomach
45	chr14:69286400-69291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:69286600-69287800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:69286600-69287800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:69286600-69288200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr14:69286600-69289200	Weak transcription	HMEC	breast
50	chr14:69286600-69290800	Weak transcription	Ovary	ovary

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