Variant report

Variant	rs6706327
Chromosome Location	chr2:74263122-74263123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74233321..74236267-chr2:74261492..74264516,4	K562	blood:
2	chr2:74260106..74261716-chr2:74262386..74265335,3	K562	blood:
3	chr2:74210926..74215380-chr2:74261729..74265368,4	K562	blood:
4	chr2:74254651..74256596-chr2:74261749..74264116,3	K562	blood:
5	chr2:74262372..74265122-chr2:74265413..74267143,2	K562	blood:
6	chr2:74260003..74261827-chr2:74262096..74265346,4	K562	blood:

Variant related genes	Relation type
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10164943	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10168249	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10168408	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10168410	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10179742	0.82[ASN][1000 genomes]
rs10179967	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10184542	0.82[ASN][1000 genomes]
rs10191539	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10198884	0.88[ASN][1000 genomes]
rs10200470	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11126424	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11884748	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11885172	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886928	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898903	0.92[EUR][1000 genomes]
rs12328927	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713803	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713804	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713805	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713806	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713808	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713809	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713810	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12988533	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12995468	0.92[EUR][1000 genomes]
rs13005103	0.89[EUR][1000 genomes]
rs13006301	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13006407	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13011961	0.89[EUR][1000 genomes]
rs13013211	0.88[EUR][1000 genomes]
rs13014576	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13016198	0.90[EUR][1000 genomes]
rs13021880	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13027288	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13027623	0.90[EUR][1000 genomes]
rs13030414	0.90[EUR][1000 genomes]
rs13387010	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28450901	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28460865	0.88[ASN][1000 genomes]
rs34136450	0.88[EUR][1000 genomes]
rs34201525	0.86[EUR][1000 genomes]
rs35592918	0.92[EUR][1000 genomes]
rs35609589	0.91[EUR][1000 genomes]
rs3902790	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073048	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4241260	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4270374	0.83[EUR][1000 genomes]
rs4328662	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4331526	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4364046	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4371381	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4374402	0.91[EUR][1000 genomes]
rs4416242	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4422181	0.84[EUR][1000 genomes]
rs4574138	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4578887	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4621184	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4852326	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4853003	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4853005	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4853006	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4853007	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4853009	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60279245	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546884	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546885	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546886	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6546887	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6713313	0.86[EUR][1000 genomes]
rs6714186	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6717896	0.86[EUR][1000 genomes]
rs6741544	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6743073	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6745236	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745576	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6745792	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6754218	0.91[EUR][1000 genomes]
rs6755711	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6756474	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71337722	0.92[EUR][1000 genomes]
rs7560668	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7568898	0.88[ASN][1000 genomes]
rs7584777	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587991	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589915	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592749	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593050	0.88[EUR][1000 genomes]
rs7595401	0.88[ASN][1000 genomes]
rs7597388	0.89[EUR][1000 genomes]
rs7601526	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7606491	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309478	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
3	chr2:74256000-74269600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:74256200-74266400	Weak transcription	HepG2	liver
5	chr2:74259400-74269600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:74259600-74264200	Weak transcription	Liver	Liver
7	chr2:74259600-74264200	Weak transcription	Small Intestine	intestine
8	chr2:74259800-74264200	Weak transcription	Ovary	ovary
9	chr2:74259800-74264600	Weak transcription	Spleen	Spleen
10	chr2:74259800-74265400	Weak transcription	Pancreas	Pancrea
11	chr2:74259800-74269200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:74260000-74263800	Weak transcription	Fetal Brain Male	brain
13	chr2:74260000-74263800	Weak transcription	Gastric	stomach
14	chr2:74260000-74263800	Weak transcription	Right Ventricle	heart
15	chr2:74260000-74264200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:74260000-74264200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:74260000-74264200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:74260000-74264200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:74260000-74264200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:74260000-74264200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:74260000-74264200	Weak transcription	Esophagus	oesophagus
22	chr2:74260000-74264200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:74260000-74264200	Weak transcription	Left Ventricle	heart
24	chr2:74260000-74264200	Weak transcription	Right Atrium	heart
25	chr2:74260000-74264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:74260000-74264400	Weak transcription	HMEC	breast
27	chr2:74260000-74264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:74260000-74264600	Weak transcription	Psoas Muscle	Psoas
29	chr2:74260000-74264600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:74260000-74266200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:74260000-74267400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:74260000-74269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:74260000-74269400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:74260000-74269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:74260000-74269800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:74260000-74269800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:74260000-74273200	Weak transcription	Brain Germinal Matrix	brain
38	chr2:74260200-74263200	Weak transcription	NHLF	lung
39	chr2:74260200-74263400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:74260200-74263400	Weak transcription	Brain Substantia Nigra	brain
41	chr2:74260200-74263600	Weak transcription	Stomach Mucosa	stomach
42	chr2:74260200-74264000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:74260200-74264200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:74260200-74264200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:74260200-74264200	Weak transcription	Colonic Mucosa	Colon
46	chr2:74260200-74264200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:74260200-74264400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:74260200-74264400	Weak transcription	NHEK	skin
49	chr2:74260200-74265200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:74260200-74267000	Weak transcription	Fetal Heart	heart

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