Variant report

Variant	rs551806949
Chromosome Location	chr5:61748893-61748894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61747217..61749290-chr5:61754763..61757506,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	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
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	25 gene(s)	inside rSNPs	diseases
12	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
13	nsv10704	chr5:61747538-61750135	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3470517	chr5:61747761-61749493	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3523119	chr5:61747796-61749491	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3523123	chr5:61747805-61749461	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3523120	chr5:61747813-61749413	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3470518	chr5:61747885-61749448	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3523121	chr5:61747893-61749430	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3523122	chr5:61747957-61749381	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3470520	chr5:61747961-61749379	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3523124	chr5:61747961-61749379	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv14501	chr5:61748125-61749393	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
3	chr5:61709800-61769000	Weak transcription	NH-A	brain
4	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:61722800-61770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:61728200-61752800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:61728400-61752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:61728400-61763400	Weak transcription	Pancreas	Pancrea
9	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
10	chr5:61728800-61763000	Weak transcription	Fetal Brain Female	brain
11	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:61729600-61752800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:61730000-61834200	Weak transcription	Gastric	stomach
14	chr5:61730800-61750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:61731800-61764000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:61732200-61753200	Weak transcription	NHLF	lung
17	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:61733200-61756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:61733600-61763000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:61738800-61763000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:61739200-61763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:61739200-61763400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:61739800-61752600	Weak transcription	NHEK	skin
26	chr5:61739800-61752800	Weak transcription	HMEC	breast
27	chr5:61741600-61751200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:61741600-61753400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:61742000-61751200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:61742200-61754400	Weak transcription	Stomach Mucosa	stomach
31	chr5:61743000-61752800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:61743000-61763400	Weak transcription	Brain Angular Gyrus	brain
33	chr5:61743600-61749000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:61743600-61753400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:61743800-61750800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:61744000-61749200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr5:61744000-61751000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:61744000-61752600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:61744600-61749200	Strong transcription	Adipose Nuclei	Adipose
40	chr5:61744600-61752800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:61744600-61764000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
43	chr5:61745000-61751000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:61745400-61749600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:61745400-61749600	Strong transcription	K562	blood
46	chr5:61745600-61749400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:61745600-61749600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:61745600-61749600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:61745600-61751200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:61745600-61753600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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