Variant report

Variant	rs10440615
Chromosome Location	chr5:52901165-52901166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10052720	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10067133	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361795	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28541946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv881348	chr5:52885100-52942083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv881237	chr5:52885100-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv880426	chr5:52885100-52953048	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv881604	chr5:52885100-53035301	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv880762	chr5:52894276-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv4828	chr5:52895470-52940279	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine
2	chr5:52876800-52907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:52878400-52901200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:52885600-52902600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:52885800-52906000	Weak transcription	Psoas Muscle	Psoas
6	chr5:52888000-52905000	Weak transcription	Right Ventricle	heart
7	chr5:52888800-52908200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:52889000-52904200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:52889400-52902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:52889800-52920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:52890000-52903000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:52890000-52912400	Weak transcription	K562	blood
13	chr5:52890200-52901400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:52890200-52903000	Weak transcription	HSMMtube	muscle
15	chr5:52890200-52907200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:52890200-52920000	Weak transcription	HepG2	liver
17	chr5:52893400-52903400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:52894200-52905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:52894600-52902200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:52895400-52902800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:52895600-52902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:52896600-52902200	Weak transcription	HUVEC	blood vessel
23	chr5:52897800-52902600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:52897800-52904000	Weak transcription	NH-A	brain
25	chr5:52897800-52904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:52897800-52906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:52898800-52902000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:52898800-52902000	Weak transcription	Fetal Thymus	thymus
29	chr5:52898800-52904200	Weak transcription	Thymus	Thymus
30	chr5:52899000-52904200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:52899000-52904600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:52899200-52901400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:52899200-52902000	Weak transcription	Spleen	Spleen
34	chr5:52899200-52902400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:52899200-52903200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:52899200-52903200	Weak transcription	NHDF-Ad	bronchial
37	chr5:52899200-52904000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:52899200-52904000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:52899200-52904400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:52899200-52904400	Weak transcription	Colonic Mucosa	Colon
41	chr5:52899200-52904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:52899200-52905800	Weak transcription	Fetal Brain Female	brain
43	chr5:52899200-52906000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:52899200-52908400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:52899200-52908400	Weak transcription	HMEC	breast
46	chr5:52899200-52910200	Weak transcription	Brain Germinal Matrix	brain
47	chr5:52899400-52902000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:52899400-52902000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:52899400-52902400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:52899400-52904000	Weak transcription	Ovary	ovary

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