Variant report

Variant	rs10039927
Chromosome Location	chr5:145627302-145627303
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145625869..145628007-chr5:145631607..145633546,2	K562	blood:
2	chr5:145625443..145628007-chr5:145629715..145633107,5	K562	blood:
3	chr5:145625814..145628687-chr5:145636719..145638380,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10043763	1.00[YRI][hapmap]
rs10063410	0.89[AFR][1000 genomes]
rs10065038	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13362440	1.00[YRI][hapmap]

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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription 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	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv523502	chr5:145588483-145639987	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv883013	chr5:145595837-145651979	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv517251	chr5:145622472-145630737	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv462478	chr5:145622472-145687295	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv599937	chr5:145622472-145687295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
3	chr5:145593400-145651000	Weak transcription	Stomach Mucosa	stomach
4	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:145597200-145640600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:145598000-145632200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:145598200-145640400	Weak transcription	Psoas Muscle	Psoas
8	chr5:145598400-145629600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:145598400-145640400	Weak transcription	Fetal Heart	heart
10	chr5:145598800-145640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:145599800-145640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:145601800-145648200	Weak transcription	Fetal Brain Male	brain
13	chr5:145602600-145647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:145602600-145653800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:145606600-145630000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:145610400-145630800	Weak transcription	NHEK	skin
17	chr5:145610400-145639800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:145610600-145630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:145611000-145628200	Weak transcription	Gastric	stomach
20	chr5:145611000-145628200	Weak transcription	HepG2	liver
21	chr5:145611000-145640600	Weak transcription	Colonic Mucosa	Colon
22	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
23	chr5:145613200-145633200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:145613200-145634400	Weak transcription	Fetal Kidney	kidney
25	chr5:145613200-145641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:145613400-145631200	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:145613400-145640400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:145613400-145658800	Weak transcription	Pancreas	Pancrea
29	chr5:145614200-145631200	Weak transcription	NH-A	brain
30	chr5:145614200-145632000	Weak transcription	HSMM	muscle
31	chr5:145616200-145631200	Weak transcription	HMEC	breast
32	chr5:145617000-145628600	Weak transcription	Esophagus	oesophagus
33	chr5:145617200-145629600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:145617200-145631200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:145617400-145629200	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:145617400-145631200	Weak transcription	Brain Anterior Caudate	brain
37	chr5:145617400-145631200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:145617400-145648200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:145617600-145640600	Weak transcription	Right Ventricle	heart
40	chr5:145617600-145642600	Weak transcription	Spleen	Spleen
41	chr5:145617800-145628800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:145617800-145629400	Weak transcription	A549	lung
43	chr5:145617800-145631400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:145617800-145636600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:145617800-145639800	Weak transcription	HSMMtube	muscle
46	chr5:145617800-145640400	Weak transcription	Brain Substantia Nigra	brain
47	chr5:145618000-145639800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:145618000-145642400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:145618200-145631200	Weak transcription	HUVEC	blood vessel
50	chr5:145618400-145628600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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