Variant report

Variant	rs60266816
Chromosome Location	chr4:99270466-99270467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs28651913	1.00[EUR][1000 genomes]
rs2866008	1.00[EUR][1000 genomes]
rs28683554	1.00[EUR][1000 genomes]
rs34392334	1.00[AMR][1000 genomes]
rs58408865	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58485619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58977062	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59516498	1.00[EUR][1000 genomes]
rs59929475	1.00[EUR][1000 genomes]
rs60470511	1.00[EUR][1000 genomes]
rs61041466	1.00[EUR][1000 genomes]
rs72883608	1.00[EUR][1000 genomes]
rs72883610	1.00[EUR][1000 genomes]
rs72883612	1.00[EUR][1000 genomes]
rs72883618	1.00[EUR][1000 genomes]
rs72892327	1.00[EUR][1000 genomes]
rs72892332	1.00[EUR][1000 genomes]
rs72892346	1.00[EUR][1000 genomes]
rs72892347	1.00[EUR][1000 genomes]
rs72892354	1.00[EUR][1000 genomes]
rs72892355	1.00[EUR][1000 genomes]
rs72892359	1.00[EUR][1000 genomes]
rs72892365	1.00[EUR][1000 genomes]
rs72892368	1.00[EUR][1000 genomes]
rs72892376	1.00[EUR][1000 genomes]
rs72894293	1.00[EUR][1000 genomes]
rs72894299	1.00[EUR][1000 genomes]
rs72894392	1.00[EUR][1000 genomes]
rs72896117	1.00[EUR][1000 genomes]
rs72896309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896311	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896319	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896324	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896325	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896338	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896342	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896346	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896356	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896389	1.00[EUR][1000 genomes]
rs72896392	1.00[EUR][1000 genomes]
rs72898108	1.00[EUR][1000 genomes]
rs72898341	1.00[EUR][1000 genomes]
rs72898343	1.00[EUR][1000 genomes]
rs72898363	1.00[EUR][1000 genomes]
rs72898376	1.00[EUR][1000 genomes]
rs72898388	1.00[EUR][1000 genomes]
rs72898393	1.00[EUR][1000 genomes]
rs72900361	1.00[EUR][1000 genomes]
rs72900365	1.00[EUR][1000 genomes]
rs72900388	1.00[EUR][1000 genomes]
rs72900390	1.00[EUR][1000 genomes]
rs7676778	1.00[AMR][1000 genomes]
rs7691924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS 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	18 gene(s)	inside rSNPs	diseases
4	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers 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	20 gene(s)	inside rSNPs	diseases
5	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
2	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
3	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:99252400-99287400	Weak transcription	Aorta	Aorta
5	chr4:99254400-99286400	Weak transcription	Ovary	ovary
6	chr4:99255800-99273400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:99256200-99287200	Weak transcription	Right Ventricle	heart
8	chr4:99256600-99286000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:99256800-99286400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:99257800-99273200	Weak transcription	HUVEC	blood vessel
11	chr4:99258400-99274000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:99258800-99286000	Weak transcription	Pancreas	Pancrea
13	chr4:99259200-99275800	Weak transcription	K562	blood
14	chr4:99259600-99273800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:99259800-99273400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:99260200-99273600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:99260400-99273600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:99260800-99276600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:99261200-99272600	Weak transcription	Lung	lung
20	chr4:99261400-99273600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:99262600-99287000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:99262800-99273800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:99262800-99276800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:99262800-99286000	Weak transcription	Primary T cells from cord blood	blood
25	chr4:99262800-99286400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:99262800-99286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:99262800-99290600	Weak transcription	NH-A	brain
28	chr4:99262800-99295600	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:99262800-99333400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:99263000-99296000	Weak transcription	Brain Angular Gyrus	brain
31	chr4:99263200-99288600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:99263600-99274000	Weak transcription	Adipose Nuclei	Adipose
33	chr4:99263600-99274600	Weak transcription	Brain Germinal Matrix	brain
34	chr4:99263600-99276800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:99263800-99287200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:99264000-99287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:99264600-99288000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:99265000-99271400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:99265200-99273600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:99265200-99286200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:99265200-99297800	Weak transcription	Osteobl	bone
43	chr4:99265400-99273400	Weak transcription	HMEC	breast
44	chr4:99265400-99287600	Weak transcription	HSMMtube	muscle
45	chr4:99265400-99298400	Weak transcription	NHDF-Ad	bronchial
46	chr4:99265600-99273600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:99265600-99276800	Weak transcription	Fetal Lung	lung
48	chr4:99266200-99270800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:99266200-99273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:99266200-99287400	Weak transcription	Duodenum Mucosa	Duodenum

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