Variant report

Variant	rs12109571
Chromosome Location	chr5:36115056-36115057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36114529..36117143-chr5:36150539..36152194,3	K562	blood:
2	chr5:36114529..36117143-chr5:36150677..36152194,2	K562	blood:

Variant related genes	Relation type
ENSG00000164187	Chromatin interaction
ENSG00000145604	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10452459	1.00[EUR][1000 genomes]
rs10512641	1.00[EUR][1000 genomes]
rs11949914	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952545	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11953540	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11959495	1.00[EUR][1000 genomes]
rs11960054	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1500223	1.00[EUR][1000 genomes]
rs1500225	1.00[EUR][1000 genomes]
rs16902710	0.91[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16902726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902747	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902765	1.00[EUR][1000 genomes]
rs16902789	1.00[EUR][1000 genomes]
rs16902814	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16902829	1.00[EUR][1000 genomes]
rs16902858	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16902872	1.00[TSI][hapmap]
rs16902910	1.00[EUR][1000 genomes]
rs16902936	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1874182	1.00[EUR][1000 genomes]
rs1965840	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2172777	1.00[EUR][1000 genomes]
rs2362981	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3853244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3853245	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3895887	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs4022390	0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56815690	1.00[EUR][1000 genomes]
rs57472443	1.00[EUR][1000 genomes]
rs58131800	1.00[EUR][1000 genomes]
rs59754678	1.00[EUR][1000 genomes]
rs60083069	1.00[EUR][1000 genomes]
rs61209349	1.00[EUR][1000 genomes]
rs61656343	1.00[EUR][1000 genomes]
rs6451255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451267	1.00[EUR][1000 genomes]
rs6860085	1.00[TSI][hapmap]
rs6860896	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6866069	1.00[EUR][1000 genomes]
rs6867280	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6869324	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6874771	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs6875875	1.00[EUR][1000 genomes]
rs6878587	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881555	1.00[EUR][1000 genomes]
rs6886540	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6887103	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896401	1.00[EUR][1000 genomes]
rs6896576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6897845	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6898451	1.00[EUR][1000 genomes]
rs73081933	1.00[EUR][1000 genomes]
rs73081942	1.00[EUR][1000 genomes]
rs73081945	1.00[EUR][1000 genomes]
rs73748793	1.00[EUR][1000 genomes]
rs73751620	1.00[EUR][1000 genomes]
rs73751622	1.00[EUR][1000 genomes]
rs766065	1.00[EUR][1000 genomes]
rs7702340	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7705125	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709624	1.00[EUR][1000 genomes]
rs7710047	1.00[EUR][1000 genomes]
rs7718407	1.00[EUR][1000 genomes]
rs7719226	0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723314	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725596	1.00[EUR][1000 genomes]
rs7730301	1.00[EUR][1000 genomes]
rs7730829	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7733484	0.83[ASW][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs921022	0.81[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32711	chr5:36047797-36146166	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 miRNA	63 gene(s)	inside rSNPs	diseases
3	nsv4795	chr5:36106115-36150407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36092800-36116200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:36096600-36128600	Weak transcription	Fetal Brain Male	brain
3	chr5:36099000-36116800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:36100200-36127600	Weak transcription	Pancreas	Pancrea
5	chr5:36100200-36139400	Weak transcription	Gastric	stomach
6	chr5:36100800-36127600	Weak transcription	Spleen	Spleen
7	chr5:36101200-36150800	Weak transcription	Colonic Mucosa	Colon
8	chr5:36102000-36118400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:36102200-36118400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:36102600-36129200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:36102600-36141400	Weak transcription	Hela-S3	cervix
12	chr5:36103000-36128000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:36103600-36118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:36103600-36147200	Weak transcription	HUVEC	blood vessel
15	chr5:36103800-36117600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:36103800-36118400	Strong transcription	Liver	Liver
17	chr5:36104000-36118400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:36104000-36118600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:36104800-36139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:36105400-36128000	Weak transcription	Lung	lung
21	chr5:36105600-36125600	Weak transcription	Fetal Heart	heart
22	chr5:36105600-36142400	Weak transcription	NH-A	brain
23	chr5:36106200-36129200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:36106200-36139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:36108000-36115400	Weak transcription	Psoas Muscle	Psoas
26	chr5:36108200-36115400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:36108200-36115400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:36108200-36115400	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:36108200-36115400	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:36108200-36116200	Weak transcription	Ovary	ovary
31	chr5:36108200-36117000	Weak transcription	Small Intestine	intestine
32	chr5:36108200-36117200	Weak transcription	Thymus	Thymus
33	chr5:36108200-36122400	Weak transcription	GM12878-XiMat	blood
34	chr5:36108200-36126000	Weak transcription	Right Ventricle	heart
35	chr5:36108200-36127400	Weak transcription	HSMMtube	muscle
36	chr5:36108200-36127600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:36108200-36127600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:36108200-36127800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:36108200-36129400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:36108200-36139000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:36108200-36139200	Weak transcription	Esophagus	oesophagus
42	chr5:36108200-36139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:36108200-36139400	Weak transcription	Aorta	Aorta
44	chr5:36108400-36115200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:36108400-36125800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:36108400-36139800	Weak transcription	Brain Substantia Nigra	brain
47	chr5:36108400-36150600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:36108600-36115400	Weak transcription	Placenta	Placenta
49	chr5:36108600-36116200	Weak transcription	Osteobl	bone
50	chr5:36108600-36123200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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