Variant report

Variant	rs7161530
Chromosome Location	chr14:32721367-32721368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:32542506..32543573-chr14:32720989..32721921,5	K562	blood:
2	chr14:32403221..32404535-chr14:32721037..32721949,6	MCF-7	breast:
3	chr14:32542502..32543704-chr14:32720937..32721764,5	MCF-7	breast:
4	chr14:32395062..32396238-chr14:32721028..32721952,3	MCF-7	breast:
5	chr14:32721143..32722141-chr14:32851679..32852591,2	MCF-7	breast:
6	chr14:32720658..32723115-chr14:32723813..32725711,2	K562	blood:
7	chr14:32714513..32717324-chr14:32719645..32722462,2	K562	blood:
8	chr14:32542263..32548476-chr14:32718858..32724854,7	MCF-7	breast:
9	chr14:32542579..32543458-chr14:32720482..32722172,6	MCF-7	breast:
10	chr14:32394915..32396057-chr14:32721234..32722134,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007279	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs10145223	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17098631	1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1951679	0.81[ASN][1000 genomes]
rs1951680	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4145676	0.95[ASN][1000 genomes]
rs4981953	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs7144586	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7155347	0.84[EUR][1000 genomes]
rs7160483	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs7161546	0.87[EUR][1000 genomes]
rs8011923	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8012126	0.81[EUR][1000 genomes]
rs8014494	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9972142	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][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	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv564184	chr14:32688214-32734691	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32715200-32727600	Weak transcription	Psoas Muscle	Psoas
2	chr14:32719000-32737600	Weak transcription	Left Ventricle	heart
3	chr14:32719400-32727800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:32719600-32724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:32719600-32727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:32720000-32721600	Enhancers	Fetal Brain Male	brain
7	chr14:32720200-32721800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:32720200-32721800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr14:32720400-32721400	Enhancers	Brain Anterior Caudate	brain
10	chr14:32720400-32721400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:32720400-32721600	Enhancers	Fetal Stomach	stomach
12	chr14:32720400-32721800	Enhancers	Brain Germinal Matrix	brain
13	chr14:32720400-32721800	Enhancers	Brain Substantia Nigra	brain
14	chr14:32720600-32721400	Enhancers	Fetal Lung	lung
15	chr14:32720600-32721400	Enhancers	Stomach Smooth Muscle	stomach
16	chr14:32720600-32721600	Enhancers	NHEK	skin
17	chr14:32720800-32721400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:32720800-32721400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:32720800-32721600	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:32720800-32721600	Enhancers	Brain Hippocampus Middle	brain
21	chr14:32720800-32721600	Enhancers	Rectal Smooth Muscle	rectum
22	chr14:32720800-32721600	Enhancers	A549	lung
23	chr14:32721000-32721400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:32721000-32721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:32721000-32721400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:32721000-32721400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:32721000-32721400	Enhancers	Fetal Heart	heart
28	chr14:32721000-32721400	Enhancers	HepG2	liver
29	chr14:32721000-32721400	Enhancers	NHLF	lung
30	chr14:32721000-32721400	Enhancers	Osteobl	bone
31	chr14:32721000-32721600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:32721000-32721800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:32721000-32721800	Enhancers	Brain Angular Gyrus	brain
34	chr14:32721000-32721800	Enhancers	Dnd41	blood
35	chr14:32721000-32722000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:32721000-32722000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:32721200-32721400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr14:32721200-32721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:32721200-32721400	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr14:32721200-32721400	Enhancers	Pancreas	Pancrea
41	chr14:32721200-32721400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:32721200-32721400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:32721200-32721600	Enhancers	Primary B cells from peripheral blood	blood
44	chr14:32721200-32721600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:32721200-32721600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:32721200-32721800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr14:32721200-32721800	Enhancers	HMEC	breast
48	chr14:32721200-32724200	Weak transcription	Right Atrium	heart
49	chr14:32721200-32727600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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