Variant report

Variant	rs182381911
Chromosome Location	chr4:48720161-48720162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1796692	chr4:48686817-48726266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	esv19711	chr4:48719398-48721835	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv594122	chr4:48719424-48720783	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv594123	chr4:48719424-48720900	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv594124	chr4:48719424-48720970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv594125	chr4:48719424-48721669	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv1794375	chr4:48719424-48721776	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv1796141	chr4:48719424-48721776	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1796229	chr4:48719424-48721776	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv1796771	chr4:48719424-48721776	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1797455	chr4:48719424-48721776	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1797736	chr4:48719424-48721776	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1798583	chr4:48719424-48721776	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1799526	chr4:48719424-48721776	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1800206	chr4:48719424-48721776	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1800847	chr4:48719424-48721776	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1801486	chr4:48719424-48721776	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv594126	chr4:48719424-48721776	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1794746	chr4:48719424-48726266	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	esv1801956	chr4:48719424-48726266	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	esv1804059	chr4:48719424-48726266	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	esv1803597	chr4:48719424-48726347	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	esv1792281	chr4:48719424-48764009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	esv1794245	chr4:48719424-48764009	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
39	esv1794757	chr4:48719424-48764009	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
40	esv1793635	chr4:48719733-48721976	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1801023	chr4:48719733-48721976	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv822558	chr4:48719733-48722022	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv33592	chr4:48719962-48720360	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv594127	chr4:48720063-48721776	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
4	chr4:48701800-48724600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:48702800-48720800	Weak transcription	Small Intestine	intestine
6	chr4:48703400-48722800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:48705600-48728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:48707400-48720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:48709000-48720200	Weak transcription	HepG2	liver
10	chr4:48709000-48723600	Weak transcription	Left Ventricle	heart
11	chr4:48709000-48724600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:48709000-48726400	Weak transcription	Ovary	ovary
13	chr4:48711200-48720600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:48711800-48724400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:48712000-48723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:48712200-48724000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:48712200-48724400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:48712400-48721000	Weak transcription	Liver	Liver
19	chr4:48712400-48721000	Weak transcription	Brain Anterior Caudate	brain
20	chr4:48712400-48727200	Weak transcription	HSMM	muscle
21	chr4:48712600-48724000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:48712600-48724600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:48712800-48724400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:48712800-48727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:48712800-48728200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:48712800-48731000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:48713000-48720800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:48713000-48720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:48713000-48724000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:48713000-48724200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:48713000-48724800	Weak transcription	NHEK	skin
32	chr4:48713000-48725200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:48713000-48727800	Weak transcription	HMEC	breast
34	chr4:48713000-48728200	Weak transcription	Primary B cells from cord blood	blood
35	chr4:48713000-48728200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:48713200-48724200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:48713200-48724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:48716000-48724000	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:48718600-48721400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr4:48719000-48724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:48719400-48720200	ZNF genes & repeats	Dnd41	blood
42	chr4:48719600-48720200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:48719600-48720400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:48719600-48721600	Enhancers	Brain Substantia Nigra	brain
45	chr4:48719800-48724200	Weak transcription	Primary T cells from cord blood	blood
46	chr4:48720000-48720400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:48720000-48720600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:48720000-48720800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:48720000-48727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:48720000-48727800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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