Variant report

Variant	rs72892376
Chromosome Location	chr4:99212724-99212725
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99211258..99213088-chr4:99217332..99219608,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs28651913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2866008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28683554	1.00[EUR][1000 genomes]
rs58408865	1.00[EUR][1000 genomes]
rs58485619	1.00[EUR][1000 genomes]
rs58977062	1.00[EUR][1000 genomes]
rs59516498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59929475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60266816	1.00[EUR][1000 genomes]
rs60470511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61041466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883608	1.00[EUR][1000 genomes]
rs72883610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883612	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892346	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892347	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894392	1.00[EUR][1000 genomes]
rs72896117	1.00[EUR][1000 genomes]
rs72896309	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72896311	1.00[EUR][1000 genomes]
rs72896316	1.00[EUR][1000 genomes]
rs72896319	1.00[EUR][1000 genomes]
rs72896324	1.00[EUR][1000 genomes]
rs72896325	1.00[EUR][1000 genomes]
rs72896335	1.00[EUR][1000 genomes]
rs72896338	1.00[EUR][1000 genomes]
rs72896342	1.00[EUR][1000 genomes]
rs72896346	1.00[EUR][1000 genomes]
rs72896356	1.00[EUR][1000 genomes]
rs72896358	1.00[EUR][1000 genomes]
rs72896365	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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900388	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:99184200-99242200	Weak transcription	A549	lung
3	chr4:99185400-99239400	Weak transcription	NHEK	skin
4	chr4:99194000-99215400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:99194600-99214600	Weak transcription	Liver	Liver
6	chr4:99196600-99214200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:99197000-99214600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:99204800-99226600	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:99205000-99215400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:99206000-99218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:99206000-99234800	Weak transcription	Pancreas	Pancrea
12	chr4:99206200-99212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:99206200-99214800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:99206200-99214800	Weak transcription	Left Ventricle	heart
15	chr4:99206200-99214800	Weak transcription	Spleen	Spleen
16	chr4:99206200-99214800	Weak transcription	HSMM	muscle
17	chr4:99206200-99215800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:99206200-99215800	Weak transcription	HMEC	breast
19	chr4:99206200-99218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:99206200-99218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:99206200-99229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:99206200-99232800	Weak transcription	Gastric	stomach
23	chr4:99206200-99234000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:99206200-99239800	Weak transcription	Aorta	Aorta
25	chr4:99206400-99214600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:99206800-99214400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:99206800-99214400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:99206800-99215400	Weak transcription	NHDF-Ad	bronchial
29	chr4:99206800-99216000	Weak transcription	HUVEC	blood vessel
30	chr4:99206800-99219000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:99206800-99223600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:99207600-99214800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:99208800-99222800	Weak transcription	Adipose Nuclei	Adipose
34	chr4:99209800-99213400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:99210000-99213400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:99210000-99213400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:99210200-99213200	Enhancers	Brain Anterior Caudate	brain
38	chr4:99210200-99250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:99210400-99213000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:99210600-99214800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:99210600-99214800	Weak transcription	Psoas Muscle	Psoas
42	chr4:99210600-99218400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:99210600-99219200	Weak transcription	Small Intestine	intestine
44	chr4:99210600-99220600	Weak transcription	Right Ventricle	heart
45	chr4:99210600-99222200	Weak transcription	Fetal Intestine Small	intestine
46	chr4:99210600-99222600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:99210600-99223600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:99210800-99215800	Weak transcription	NH-A	brain
49	chr4:99210800-99222800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:99211000-99213600	Enhancers	Brain Hippocampus Middle	brain

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