Variant report

Variant	rs12519878
Chromosome Location	chr5:61889566-61889567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61886779..61891355-chr5:61892416..61896612,4	K562	blood:
2	chr5:61882277..61887456-chr5:61887734..61891517,4	K562	blood:
3	chr5:61881611..61886681-chr5:61887454..61890458,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10461473	0.80[ASN][1000 genomes]
rs1374009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16890852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16890857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4700493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs61241554	0.92[ASN][1000 genomes]
rs61456325	0.89[ASN][1000 genomes]
rs6895112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73760833	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9291762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription 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
12	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
2	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
3	chr5:61793600-61905000	Weak transcription	NHEK	skin
4	chr5:61796800-61899000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:61803000-61904400	Weak transcription	Fetal Kidney	kidney
6	chr5:61815200-61890600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:61827400-61899200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:61834800-61899200	Weak transcription	Esophagus	oesophagus
9	chr5:61848200-61939600	Weak transcription	Brain Anterior Caudate	brain
10	chr5:61856400-61906400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:61861400-61902600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:61862200-61902600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:61863200-61910200	Weak transcription	Right Ventricle	heart
14	chr5:61864200-61899200	Weak transcription	Thymus	Thymus
15	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
16	chr5:61865000-61890600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:61865000-61890600	Weak transcription	Fetal Intestine Large	intestine
18	chr5:61872600-61890000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:61874200-61890200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:61874800-61889800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:61874800-61890000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:61875000-61889800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:61875000-61906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:61875000-61922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:61875400-61893200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:61876200-61904400	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:61878200-61890400	Weak transcription	Right Atrium	heart
28	chr5:61879600-61908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:61881400-61939400	Weak transcription	Spleen	Spleen
30	chr5:61881600-61890200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:61881800-61890200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:61881800-61892600	Weak transcription	NHLF	lung
33	chr5:61881800-61901200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:61881800-61905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:61882000-61916400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:61882200-61902600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:61882200-61925400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:61883400-61925800	Weak transcription	Psoas Muscle	Psoas
39	chr5:61884000-61910200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:61885400-61896200	Weak transcription	HepG2	liver
41	chr5:61885800-61904400	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:61886000-61891800	Weak transcription	Fetal Brain Female	brain
43	chr5:61886600-61891200	Strong transcription	Dnd41	blood
44	chr5:61886800-61889800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:61886800-61941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:61887000-61912000	Weak transcription	Brain Angular Gyrus	brain
47	chr5:61887000-61922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:61887200-61890200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:61887400-61890600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:61887400-61891000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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