Variant report

Variant	rs8078025
Chromosome Location	chr17:19701680-19701681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19700984..19703943-chr17:19714098..19715864,2	MCF-7	breast:
2	chr17:19697847..19700203-chr17:19701124..19704038,2	K562	blood:

Variant related genes	Relation type
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60693525	1.00[AFR][1000 genomes]
rs62636609	1.00[AFR][1000 genomes]
rs7221728	0.94[AFR][1000 genomes]
rs7222910	1.00[AFR][1000 genomes]
rs73295805	0.93[AFR][1000 genomes]
rs73295819	0.94[AFR][1000 genomes]
rs73295836	0.94[AFR][1000 genomes]
rs73295848	0.94[AFR][1000 genomes]
rs73295864	0.94[AFR][1000 genomes]
rs73295879	0.94[AFR][1000 genomes]
rs73295882	0.94[AFR][1000 genomes]
rs73312743	1.00[AFR][1000 genomes]
rs8073641	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:19680000-19726800	Weak transcription	NHLF	lung
4	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
5	chr17:19690800-19707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:19691000-19705200	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:19691800-19702000	Strong transcription	Brain Hippocampus Middle	brain
8	chr17:19693000-19702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:19695400-19702000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:19695600-19701800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:19695600-19701800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:19695600-19701800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr17:19695600-19702000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:19695800-19702000	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr17:19696000-19702000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr17:19696200-19704200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:19696200-19707600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:19696400-19702000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr17:19696400-19702000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:19696600-19702000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr17:19696600-19702000	Strong transcription	Brain Cingulate Gyrus	brain
22	chr17:19696600-19702200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr17:19696600-19705200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr17:19696800-19703400	Strong transcription	Osteobl	bone
25	chr17:19696800-19708600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:19697000-19701800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:19697000-19704400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:19697400-19702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:19698000-19707400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:19698000-19709400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:19698200-19701800	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr17:19698200-19701800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr17:19698600-19701800	Strong transcription	Fetal Brain Male	brain
34	chr17:19698800-19701800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr17:19698800-19701800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:19699000-19704800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr17:19699200-19701800	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr17:19699400-19701800	Strong transcription	Colon Smooth Muscle	Colon
39	chr17:19699400-19701800	ZNF genes & repeats	Ovary	ovary
40	chr17:19700200-19701800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:19700200-19701800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr17:19700200-19703400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:19700200-19704400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:19700200-19722600	Weak transcription	Esophagus	oesophagus
45	chr17:19700200-19727000	Weak transcription	Right Ventricle	heart
46	chr17:19700400-19701800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:19700400-19703000	Weak transcription	HMEC	breast
48	chr17:19700400-19703800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr17:19700400-19705200	Strong transcription	Brain Anterior Caudate	brain
50	chr17:19700400-19705200	Strong transcription	Fetal Muscle Trunk	muscle

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