Variant report

Variant	rs4640771
Chromosome Location	chr5:75011773-75011774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:75011447-75013923	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:75001250..75005615-chr5:75010572..75014500,9	K562	blood:
2	chr5:75004216..75010579-chr5:75011703..75014378,6	MCF-7	breast:
3	chr5:75010275..75012442-chr5:75036890..75039813,2	K562	blood:
4	chr5:74981038..74984120-chr5:75011699..75013859,3	K562	blood:
5	chr5:74756440..74758113-chr5:75010084..75012046,2	K562	blood:
6	chr5:75006833..75009692-chr5:75010741..75014580,11	K562	blood:

No data

Variant related genes	Relation type
POC5	TF binding region
ENSG00000152359	Chromatin interaction
ENSG00000207333	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10942740	0.91[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap]
rs11953432	1.00[MEX][hapmap]
rs16872710	1.00[MEX][hapmap]
rs16872769	1.00[MEX][hapmap]
rs16872788	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872814	1.00[MEX][hapmap]
rs28376795	0.86[AFR][1000 genomes]
rs28562938	0.86[AFR][1000 genomes]
rs28564814	0.86[AFR][1000 genomes]
rs5744586	1.00[MEX][hapmap]
rs5744687	1.00[MEX][hapmap]
rs6453138	1.00[MEX][hapmap]
rs6863912	1.00[MEX][hapmap]
rs6867195	1.00[MEX][hapmap]
rs6869286	1.00[MEX][hapmap]
rs6873350	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6875527	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6876131	1.00[MEX][hapmap]
rs6880138	1.00[MEX][hapmap]
rs7715152	1.00[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
2	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
5	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
6	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:74984200-75012400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:74990000-75012000	Weak transcription	HSMMtube	muscle
10	chr5:74990000-75012400	Weak transcription	Esophagus	oesophagus
11	chr5:74992000-75012400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:74992600-75012600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:74996800-75012400	Weak transcription	Fetal Brain Male	brain
14	chr5:74998200-75012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:74998800-75011800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:74998800-75012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:74998800-75012000	Weak transcription	Brain Anterior Caudate	brain
18	chr5:74998800-75012200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74999000-75011800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:74999000-75011800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:74999000-75011800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:74999000-75012000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:74999000-75012200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:74999000-75012200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:74999000-75012400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:74999000-75012400	Weak transcription	Colonic Mucosa	Colon
27	chr5:74999800-75012400	Weak transcription	Right Atrium	heart
28	chr5:75000400-75011800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:75000400-75012200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:75000800-75012000	Weak transcription	Osteobl	bone
31	chr5:75000800-75012400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:75001000-75012400	Weak transcription	Brain Angular Gyrus	brain
33	chr5:75002600-75012200	Weak transcription	Fetal Brain Female	brain
34	chr5:75003000-75012400	Weak transcription	Pancreas	Pancrea
35	chr5:75006400-75012400	Weak transcription	Psoas Muscle	Psoas
36	chr5:75006600-75011800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:75006600-75011800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:75006600-75011800	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:75006600-75011800	Weak transcription	Stomach Mucosa	stomach
40	chr5:75006600-75012000	Weak transcription	Liver	Liver
41	chr5:75006600-75012400	Weak transcription	Left Ventricle	heart
42	chr5:75006800-75011800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:75006800-75011800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:75006800-75011800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:75006800-75012000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:75006800-75012200	Weak transcription	Fetal Kidney	kidney
47	chr5:75006800-75012200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:75006800-75012200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:75006800-75012400	Weak transcription	Adipose Nuclei	Adipose
50	chr5:75006800-75012400	Weak transcription	Ovary	ovary

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