Variant report

Variant	rs190414244
Chromosome Location	chr5:178496607-178496608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1018650	chr5:178428743-178515196	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1024994	chr5:178429975-178505167	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1025616	chr5:178429975-178515196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1026351	chr5:178429975-178535309	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027487	chr5:178455495-178510587	Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1023392	chr5:178495775-178516483	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1021642	chr5:178495775-178535309	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178487000-178497600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr5:178488200-178511000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:178488400-178497400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr5:178488400-178497800	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr5:178488400-178499000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:178488400-178508400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr5:178488400-178511600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:178488400-178512000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:178488600-178497600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:178488600-178497800	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr5:178488600-178499400	ZNF genes & repeats	Fetal Brain Female	brain
12	chr5:178488600-178517200	ZNF genes & repeats	Liver	Liver
13	chr5:178489000-178497000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:178489000-178497600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:178489400-178511400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr5:178490000-178497200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:178490400-178500800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr5:178490600-178517400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:178490800-178497600	ZNF genes & repeats	Ovary	ovary
20	chr5:178491000-178497600	ZNF genes & repeats	Aorta	Aorta
21	chr5:178491200-178497000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:178492200-178497600	ZNF genes & repeats	Brain Substantia Nigra	brain
23	chr5:178492200-178508400	ZNF genes & repeats	Fetal Lung	lung
24	chr5:178492400-178497400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
25	chr5:178492400-178497600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
26	chr5:178492600-178497600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr5:178492600-178497800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr5:178492600-178497800	ZNF genes & repeats	Brain Hippocampus Middle	brain
29	chr5:178492600-178508000	ZNF genes & repeats	Colon Smooth Muscle	Colon
30	chr5:178492600-178512200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr5:178492600-178513400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr5:178492800-178497600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:178492800-178497600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr5:178492800-178508200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr5:178492800-178511200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:178492800-178517200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:178492800-178517200	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr5:178493000-178497000	Weak transcription	NH-A	brain
39	chr5:178493800-178497800	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr5:178494000-178497600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr5:178494000-178499200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:178494200-178497600	ZNF genes & repeats	Fetal Stomach	stomach
43	chr5:178494400-178497400	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr5:178494400-178498600	Weak transcription	Fetal Heart	heart
45	chr5:178494400-178498800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
46	chr5:178494600-178498400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:178494800-178499200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr5:178495200-178499200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:178495600-178497600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:178495600-178497600	ZNF genes & repeats	Fetal Brain Male	brain

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