Variant report

Variant	rs559193597
Chromosome Location	chr14:78296451-78296452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3530687	chr14:78295016-78297178	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
3	esv3530688	chr14:78295159-78297077	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
4	esv13075	chr14:78295292-78297017	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
5	esv1833022	chr14:78295342-78296452	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
6	nsv565211	chr14:78295342-78296452	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
7	nsv565212	chr14:78295342-78296579	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	n/a
8	nsv565213	chr14:78295342-78296691	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
9	nsv565214	chr14:78295342-78296968	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
10	nsv565216	chr14:78295451-78296452	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
11	nsv565217	chr14:78295451-78296579	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
12	nsv565218	chr14:78295451-78296717	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
13	nsv565219	chr14:78295451-78296854	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
14	nsv565220	chr14:78295451-78296968	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
15	nsv565221	chr14:78295451-78298732	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	nsv565222	chr14:78295555-78296717	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
17	nsv565223	chr14:78295555-78296854	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
18	nsv565224	chr14:78295555-78296968	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
19	nsv565225	chr14:78295578-78296452	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
20	nsv565226	chr14:78295578-78296579	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
21	nsv565227	chr14:78295578-78296854	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
22	nsv565228	chr14:78295578-78296968	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
23	nsv827001	chr14:78295917-78297130	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a
24	nsv565229	chr14:78296011-78296717	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
25	nsv565230	chr14:78296011-78296854	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a
26	nsv565231	chr14:78296011-78296968	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
27	nsv565232	chr14:78296011-78298732	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
2	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
3	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
5	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
6	chr14:78283800-78297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:78284000-78299400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:78284200-78298000	Weak transcription	HepG2	liver
9	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
10	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
12	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:78286200-78299000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:78286400-78299200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:78286400-78300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:78287000-78297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:78287000-78301400	Weak transcription	Right Ventricle	heart
23	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:78287000-78309600	Weak transcription	Osteobl	bone
25	chr14:78288600-78299400	Weak transcription	GM12878-XiMat	blood
26	chr14:78289200-78296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:78289200-78297000	Weak transcription	Aorta	Aorta
28	chr14:78289200-78301200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:78289200-78303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:78289400-78296600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:78289400-78297000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:78289400-78298600	Weak transcription	Brain Angular Gyrus	brain
33	chr14:78289400-78298600	Weak transcription	Brain Substantia Nigra	brain
34	chr14:78289400-78300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:78289400-78301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:78289400-78301800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:78289400-78305000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:78289400-78305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:78289400-78305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:78289600-78296600	Weak transcription	Left Ventricle	heart
41	chr14:78289600-78297200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:78289600-78297200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:78289600-78299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:78289600-78300200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:78289600-78301200	Weak transcription	Psoas Muscle	Psoas
46	chr14:78289600-78303800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:78289600-78304600	Weak transcription	Brain Anterior Caudate	brain
48	chr14:78289600-78305000	Weak transcription	Fetal Thymus	thymus
49	chr14:78289600-78307000	Weak transcription	Colonic Mucosa	Colon
50	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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