Variant report

Variant	rs9999779
Chromosome Location	chr4:99297237-99297238
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99284843..99287176-chr4:99294618..99297593,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10001137	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003061	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003496	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10006734	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10010260	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10013248	1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10015953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017075	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017827	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10022073	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025311	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027925	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10029895	1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10032785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10034649	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050289	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10212883	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1024127	0.89[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10470953	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12331722	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12509125	1.00[TSI][hapmap]
rs13353633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16996571	0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027340	0.87[EUR][1000 genomes]
rs17027393	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027526	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027538	1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027559	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027596	0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027597	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027607	1.00[TSI][hapmap]
rs17027617	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373747	1.00[EUR][1000 genomes]
rs28374939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28407050	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438716	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28446845	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451188	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28455818	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459325	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464398	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478192	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes]
rs28494643	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28497963	0.82[AMR][1000 genomes]
rs28503871	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28529663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28558542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564255	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589745	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28647503	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28649922	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651612	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28664868	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28731135	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28806635	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28807427	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28840158	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28882140	1.00[EUR][1000 genomes]
rs28883979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28893208	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275691	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41525749	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55993060	0.87[EUR][1000 genomes]
rs56805018	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59725407	0.91[AMR][1000 genomes]
rs60281573	0.87[EUR][1000 genomes]
rs60544326	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60638903	0.87[EUR][1000 genomes]
rs61485715	0.87[EUR][1000 genomes]
rs6831386	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834495	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858042	0.91[AMR][1000 genomes]
rs73832142	0.87[EUR][1000 genomes]
rs73832145	0.87[EUR][1000 genomes]
rs73832149	0.87[EUR][1000 genomes]
rs73832156	0.87[EUR][1000 genomes]
rs73832317	1.00[EUR][1000 genomes]
rs73834403	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834404	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834429	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834444	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834479	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834489	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7655622	1.00[GIH][hapmap];0.82[AMR][1000 genomes]
rs7656868	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658383	1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9307226	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991668	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9994467	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995184	0.89[ASW][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997337	0.89[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997973	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9998801	0.85[YRI][hapmap];0.89[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	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
8	nsv999097	chr4:99271563-99304326	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1012360	chr4:99271563-99308481	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1010207	chr4:99291295-99312807	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
2	chr4:99262800-99333400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:99265200-99297800	Weak transcription	Osteobl	bone
5	chr4:99265400-99298400	Weak transcription	NHDF-Ad	bronchial
6	chr4:99271600-99314800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:99280000-99298600	Weak transcription	NHLF	lung
8	chr4:99285000-99337800	Weak transcription	HUVEC	blood vessel
9	chr4:99285200-99306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:99286400-99310200	Weak transcription	Small Intestine	intestine
11	chr4:99288400-99342400	Weak transcription	A549	lung
12	chr4:99288600-99298600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:99288600-99313000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:99288800-99319800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:99288800-99329200	Weak transcription	Esophagus	oesophagus
16	chr4:99288800-99332000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:99288800-99333600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:99289000-99298000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:99289000-99298400	Strong transcription	Dnd41	blood
20	chr4:99289000-99301000	Weak transcription	Liver	Liver
21	chr4:99289000-99313600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:99289000-99314600	Weak transcription	Lung	lung
23	chr4:99289000-99318400	Weak transcription	Ovary	ovary
24	chr4:99289000-99333000	Weak transcription	Fetal Intestine Large	intestine
25	chr4:99289000-99333400	Weak transcription	Pancreas	Pancrea
26	chr4:99289000-99333600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:99289400-99316800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:99289400-99321000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:99290400-99308200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:99290400-99308600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:99290400-99308600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:99290600-99312800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr4:99290600-99333600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:99290600-99337800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
36	chr4:99290800-99302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:99290800-99308400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:99290800-99313000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:99290800-99315200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:99290800-99316600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:99290800-99317200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:99291000-99297800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:99291000-99297800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:99291200-99308600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:99291200-99317000	Weak transcription	Adipose Nuclei	Adipose
46	chr4:99291600-99314600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:99291800-99297600	Weak transcription	Fetal Brain Female	brain
48	chr4:99292200-99307600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:99292800-99308600	Weak transcription	Primary T cells from cord blood	blood
50	chr4:99292800-99313600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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