Variant report

Variant	rs6502581
Chromosome Location	chr17:17267922-17267923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17265082..17270324-chr17:17346925..17351276,6	MCF-7	breast:
2	chr17:17267724..17269273-chr17:17399429..17402234,2	MCF-7	breast:
3	chr17:17255612..17258358-chr17:17267370..17271148,6	K562	blood:
4	chr17:17267850..17269888-chr17:17378427..17380948,3	MCF-7	breast:
5	chr17:17267623..17269525-chr17:17271098..17273014,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000141026	Chromatin interaction

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

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

rs_ID	r²[population]
rs10521328	1.00[ASN][1000 genomes]
rs16961593	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16961599	0.85[ASN][1000 genomes]
rs242251	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs242252	0.85[ASN][1000 genomes]
rs6502582	1.00[ASN][1000 genomes]
rs6502583	1.00[ASN][1000 genomes]
rs7210856	1.00[ASN][1000 genomes]
rs7216091	1.00[ASN][1000 genomes]
rs7222318	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7223820	1.00[ASN][1000 genomes]
rs73981909	0.85[ASN][1000 genomes]
rs73981911	0.92[ASN][1000 genomes]
rs8075306	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs955893	1.00[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	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17265000-17268200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:17265000-17268400	Enhancers	Fetal Muscle Leg	muscle
3	chr17:17265200-17268400	Enhancers	Fetal Thymus	thymus
4	chr17:17266200-17268200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:17266400-17268200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr17:17266400-17268200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr17:17266600-17268000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr17:17266600-17268000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr17:17266600-17268200	Enhancers	Thymus	Thymus
10	chr17:17266600-17268400	Enhancers	Spleen	Spleen
11	chr17:17266800-17268000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr17:17267000-17268000	Enhancers	Duodenum Mucosa	Duodenum
13	chr17:17267000-17268000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr17:17267000-17268000	Flanking Active TSS	HepG2	liver
15	chr17:17267000-17268200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:17267200-17268000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:17267200-17268000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:17267200-17268000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr17:17267200-17268000	Enhancers	Right Atrium	heart
20	chr17:17267200-17268200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr17:17267200-17268200	Bivalent Enhancer	Placenta	Placenta
22	chr17:17267200-17270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:17267400-17268000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:17267400-17268000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:17267400-17268000	Enhancers	Brain Angular Gyrus	brain
26	chr17:17267400-17268000	Enhancers	Brain Anterior Caudate	brain
27	chr17:17267400-17268000	Enhancers	Brain Cingulate Gyrus	brain
28	chr17:17267400-17268200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:17267400-17268200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:17267400-17268200	Enhancers	Fetal Brain Male	brain
31	chr17:17267400-17268200	Enhancers	Fetal Intestine Large	intestine
32	chr17:17267400-17268200	Bivalent Enhancer	Fetal Stomach	stomach
33	chr17:17267600-17268000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:17267600-17268000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:17267600-17268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:17267600-17268000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:17267600-17268000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:17267600-17268000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr17:17267600-17268000	Enhancers	HSMM	muscle
40	chr17:17267600-17268000	Flanking Active TSS	NHDF-Ad	bronchial
41	chr17:17267600-17268200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr17:17267600-17268200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:17267600-17268200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr17:17267600-17268200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:17267800-17268000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr17:17267800-17268000	Flanking Active TSS	HSMMtube	muscle
47	chr17:17267800-17268000	Active TSS	Osteobl	bone
48	chr17:17267800-17268200	Enhancers	Fetal Muscle Trunk	muscle
49	chr17:17267800-17268200	Enhancers	Left Ventricle	heart
50	chr17:17267800-17268400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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