Variant report

Variant	rs28462362
Chromosome Location	chr4:102021614-102021615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10010510	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10013584	1.00[ASN][1000 genomes]
rs10026214	1.00[ASN][1000 genomes]
rs17030739	1.00[ASN][1000 genomes]
rs17030741	1.00[ASN][1000 genomes]
rs17030745	1.00[ASN][1000 genomes]
rs17030746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030753	1.00[ASN][1000 genomes]
rs17232534	1.00[ASN][1000 genomes]
rs17828764	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17829004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28380231	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28567730	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28802902	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3729663	1.00[ASN][1000 genomes]
rs72681037	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72681038	1.00[ASN][1000 genomes]
rs9307252	1.00[ASN][1000 genomes]
rs9990461	1.00[ASN][1000 genomes]
rs9990811	1.00[ASN][1000 genomes]
rs9991118	1.00[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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879669	chr4:101989816-102040091	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879670	chr4:101989816-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879671	chr4:101989816-102048076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv879673	chr4:102002123-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv879674	chr4:102002123-102048076	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv879675	chr4:102009827-102043610	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
4	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:101961000-102024600	Weak transcription	NHEK	skin
6	chr4:101961200-102024600	Weak transcription	Small Intestine	intestine
7	chr4:101978000-102024600	Weak transcription	Left Ventricle	heart
8	chr4:101978400-102023000	Weak transcription	NHLF	lung
9	chr4:101980000-102023200	Weak transcription	NHDF-Ad	bronchial
10	chr4:101981800-102025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:101982000-102023000	Weak transcription	Osteobl	bone
12	chr4:101982400-102024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:101986200-102023000	Weak transcription	Fetal Brain Female	brain
14	chr4:101988200-102024400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:101988400-102023800	Weak transcription	Fetal Kidney	kidney
16	chr4:101989400-102024600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:101992400-102024600	Weak transcription	Pancreas	Pancrea
18	chr4:101992800-102023600	Weak transcription	NH-A	brain
19	chr4:101993000-102031600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:101994800-102029800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:101996600-102024600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:101997600-102023400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:101997800-102034600	Weak transcription	HepG2	liver
24	chr4:101999600-102025200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:102000800-102023600	Weak transcription	Fetal Stomach	stomach
26	chr4:102000800-102024600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:102000800-102032400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:102002600-102023200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:102002800-102030600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:102003400-102024400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:102003600-102023400	Weak transcription	HMEC	breast
32	chr4:102004200-102023400	Weak transcription	HSMM	muscle
33	chr4:102004400-102023400	Weak transcription	Adipose Nuclei	Adipose
34	chr4:102004400-102023600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:102004400-102024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:102004600-102023400	Weak transcription	Dnd41	blood
37	chr4:102004800-102022800	Weak transcription	Brain Anterior Caudate	brain
38	chr4:102005400-102023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:102008000-102024600	Weak transcription	Right Ventricle	heart
40	chr4:102008400-102023400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:102008400-102023600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:102008800-102023400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:102009400-102023400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:102010600-102023600	Weak transcription	Psoas Muscle	Psoas
45	chr4:102010800-102022800	Weak transcription	HUVEC	blood vessel
46	chr4:102010800-102024600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:102011000-102022800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:102012200-102024800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:102014200-102023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:102014200-102023200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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