Variant report

Variant	rs70963100
Chromosome Location	chr17:17415839-17415840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17414329..17416478-chr17:17418151..17420327,2	K562	blood:
2	chr17:17402799..17405333-chr17:17413416..17415879,2	K562	blood:
3	chr17:17415079..17418148-chr17:17445039..17448328,3	MCF-7	breast:
4	chr17:17415416..17417029-chr17:17420667..17422439,2	MCF-7	breast:
5	chr17:17413540..17416682-chr17:17491858..17494964,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907738	chr17:17404586-17422608	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv907739	chr17:17404586-17424333	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv907740	chr17:17404586-17425858	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv907741	chr17:17404586-17429927	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv907742	chr17:17404586-17432744	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	esv1803680	chr17:17408484-17426009	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv574525	chr17:17411030-17422608	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv907745	chr17:17411211-17429927	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
21	nsv523094	chr17:17415217-17430649	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17400600-17422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:17400800-17419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:17401000-17418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
5	chr17:17407400-17425400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:17407800-17418400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr17:17407800-17422600	Weak transcription	Brain Germinal Matrix	brain
8	chr17:17408000-17418200	Weak transcription	Fetal Brain Female	brain
9	chr17:17408000-17418400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:17408200-17419200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:17408400-17417600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:17410200-17418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:17410200-17426400	Weak transcription	Fetal Intestine Large	intestine
14	chr17:17411000-17418400	Strong transcription	Fetal Intestine Small	intestine
15	chr17:17411000-17420000	Weak transcription	Pancreas	Pancrea
16	chr17:17411000-17428600	Weak transcription	Brain Hippocampus Middle	brain
17	chr17:17411000-17428600	Weak transcription	Right Atrium	heart
18	chr17:17411000-17428800	Weak transcription	Brain Anterior Caudate	brain
19	chr17:17411400-17417200	Weak transcription	Spleen	Spleen
20	chr17:17411400-17419200	Weak transcription	Right Ventricle	heart
21	chr17:17411400-17423000	Weak transcription	Lung	lung
22	chr17:17411400-17428600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:17411600-17425600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:17411800-17416600	Enhancers	Fetal Thymus	thymus
25	chr17:17412000-17418200	Weak transcription	Fetal Brain Male	brain
26	chr17:17412400-17416200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:17413000-17416200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr17:17413200-17416200	Enhancers	Fetal Muscle Leg	muscle
29	chr17:17413200-17437400	Weak transcription	Aorta	Aorta
30	chr17:17413800-17416200	Enhancers	Primary hematopoietic stem cells	blood
31	chr17:17413800-17416400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:17413800-17416400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr17:17413800-17416600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:17413800-17416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:17413800-17416600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:17414000-17424000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr17:17414200-17416200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:17414200-17416600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:17414400-17417600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:17414600-17416000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:17414600-17416200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:17414600-17416400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:17414600-17416600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:17414600-17416600	Enhancers	HSMM	muscle
45	chr17:17414800-17416000	Enhancers	HMEC	breast
46	chr17:17414800-17416200	Enhancers	NHLF	lung
47	chr17:17414800-17416600	Enhancers	Osteobl	bone
48	chr17:17414800-17416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:17415000-17416200	Enhancers	NH-A	brain
50	chr17:17415000-17416400	Bivalent Enhancer	NHEK	skin

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