Variant report

Variant	rs557122814
Chromosome Location	chr17:67305297-67305298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67302738..67306142-chr17:67312679..67315678,3	MCF-7	breast:
2	chr17:67302832..67306346-chr17:67321797..67325175,5	MCF-7	breast:
3	chr17:67304720..67306221-chr20:56847823..56849619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154265	Chromatin interaction
ENSG00000124224	Chromatin interaction
ENSG00000267203	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv1799828	chr17:67280310-67309039	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv908706	chr17:67290840-67332355	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
11	nsv575937	chr17:67304447-67327806	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
3	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
6	chr17:67272400-67306400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
8	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
9	chr17:67279400-67308000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67279600-67306400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:67280000-67307200	Weak transcription	Fetal Thymus	thymus
12	chr17:67283800-67312800	Weak transcription	HMEC	breast
13	chr17:67284000-67312800	Weak transcription	NHEK	skin
14	chr17:67284600-67309200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:67289600-67307000	Weak transcription	Spleen	Spleen
17	chr17:67289600-67307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:67289600-67310400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr17:67289800-67310400	Weak transcription	Brain Anterior Caudate	brain
20	chr17:67289800-67310800	Weak transcription	Colon Smooth Muscle	Colon
21	chr17:67289800-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:67290000-67305800	Weak transcription	Thymus	Thymus
23	chr17:67290000-67306200	Weak transcription	Primary T cells from cord blood	blood
24	chr17:67290000-67308200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:67290000-67310600	Weak transcription	Brain Angular Gyrus	brain
26	chr17:67290000-67311000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:67290000-67311000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:67290000-67317400	Weak transcription	Gastric	stomach
29	chr17:67290200-67306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr17:67290200-67308000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:67290400-67305600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:67290600-67305600	Weak transcription	Pancreas	Pancrea
34	chr17:67290600-67305600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:67290600-67309200	Weak transcription	Lung	lung
36	chr17:67290600-67312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:67291000-67305400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:67291800-67305600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:67291800-67309400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:67291800-67313800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
42	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
43	chr17:67294000-67310600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:67294200-67305600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:67295800-67307600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:67296600-67310600	Weak transcription	Ovary	ovary
47	chr17:67296800-67305400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr17:67296800-67305600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:67296800-67308800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:67297000-67305400	Weak transcription	Rectal Mucosa Donor 31	rectum

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