Variant report

Variant	rs111815993
Chromosome Location	chr5:61829103-61829104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61827589..61829469-chr5:61829575..61831772,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv881730	chr5:61750667-61883581	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1020713	chr5:61786309-61921150	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv537770	chr5:61786309-61921150	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv881731	chr5:61794164-61941043	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv881733	chr5:61828147-61877628	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv881734	chr5:61828147-61921815	Strong transcription Enhancers Weak 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:61730000-61834200	Weak transcription	Gastric	stomach
3	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
4	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
5	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
6	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
7	chr5:61759000-61834200	Weak transcription	Esophagus	oesophagus
8	chr5:61760800-61847200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:61764000-61833800	Weak transcription	Fetal Brain Female	brain
10	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
11	chr5:61764200-61830000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
13	chr5:61766200-61849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:61771200-61864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:61771400-61863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:61772200-61850800	Weak transcription	HSMMtube	muscle
17	chr5:61772600-61842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:61775200-61829200	Weak transcription	Brain Germinal Matrix	brain
19	chr5:61781600-61867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:61787200-61836000	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:61787400-61866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:61789400-61835400	Weak transcription	Fetal Brain Male	brain
23	chr5:61793600-61905000	Weak transcription	NHEK	skin
24	chr5:61795000-61834000	Weak transcription	Ovary	ovary
25	chr5:61795200-61850600	Weak transcription	Fetal Intestine Small	intestine
26	chr5:61796600-61866600	Weak transcription	Osteobl	bone
27	chr5:61796800-61899000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:61797000-61833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:61797000-61861200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:61802600-61889000	Weak transcription	NH-A	brain
31	chr5:61803000-61904400	Weak transcription	Fetal Kidney	kidney
32	chr5:61803200-61836200	Weak transcription	Fetal Intestine Large	intestine
33	chr5:61803200-61875000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:61803400-61855000	Weak transcription	HSMM	muscle
35	chr5:61803400-61863600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:61804400-61865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:61806800-61863400	Weak transcription	Lung	lung
38	chr5:61812000-61834400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:61812000-61834600	Weak transcription	HMEC	breast
40	chr5:61812200-61865200	Weak transcription	HUVEC	blood vessel
41	chr5:61814400-61834200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:61815000-61861400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:61815200-61890600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:61816000-61857800	Weak transcription	Fetal Stomach	stomach
45	chr5:61816200-61862200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:61817600-61833000	Weak transcription	GM12878-XiMat	blood
47	chr5:61819200-61834600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:61819200-61860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:61819400-61838000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:61819800-61838000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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