Variant report

Variant	rs2327512
Chromosome Location	chr6:12110842-12110843
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12110206..12112482-chr6:12113768..12115429,2	K562	blood:
2	chr6:12110770..12113463-chr6:12121895..12124964,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12662314	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12663812	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12664121	0.83[AMR][1000 genomes]
rs12664849	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16872348	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2157492	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2228211	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28769650	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777756	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3777757	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3777764	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777767	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777772	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777774	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777777	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3800499	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4317394	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4443504	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4484521	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4714187	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55637995	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6910367	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6917623	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6931770	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72828103	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72828104	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72828110	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7449638	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7741589	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380769	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870443	chr6:12096356-12125998	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12070800-12120400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:12071800-12120400	Weak transcription	HepG2	liver
3	chr6:12077800-12113400	Weak transcription	HMEC	breast
4	chr6:12082200-12111400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:12082200-12111400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:12082200-12112800	Weak transcription	Spleen	Spleen
7	chr6:12084800-12116600	Weak transcription	HSMMtube	muscle
8	chr6:12086000-12113200	Weak transcription	Ovary	ovary
9	chr6:12088600-12111000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:12088800-12111400	Weak transcription	Left Ventricle	heart
11	chr6:12091000-12118800	Weak transcription	A549	lung
12	chr6:12091000-12130600	Weak transcription	Psoas Muscle	Psoas
13	chr6:12091200-12111000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:12091200-12111800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:12095600-12119200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:12098400-12111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:12098400-12113200	Weak transcription	NHEK	skin
18	chr6:12098800-12112800	Weak transcription	NH-A	brain
19	chr6:12099000-12113000	Weak transcription	Osteobl	bone
20	chr6:12099000-12113200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:12100000-12112800	Weak transcription	Lung	lung
22	chr6:12100600-12111200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:12102600-12113400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:12103800-12112800	Weak transcription	Right Ventricle	heart
25	chr6:12103800-12119200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:12103800-12120400	Weak transcription	Small Intestine	intestine
27	chr6:12106000-12120600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:12106000-12120600	Weak transcription	Esophagus	oesophagus
29	chr6:12106200-12112800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:12106200-12113200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:12106200-12120400	Weak transcription	Fetal Kidney	kidney
32	chr6:12106600-12113800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:12106800-12120400	Weak transcription	Gastric	stomach
34	chr6:12107400-12111800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:12107400-12120400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:12107400-12124800	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:12107600-12111400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:12107600-12112200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:12107600-12120800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:12107800-12120600	Weak transcription	Brain Angular Gyrus	brain
41	chr6:12108000-12117000	Weak transcription	Brain Substantia Nigra	brain
42	chr6:12108200-12111600	Weak transcription	Fetal Intestine Small	intestine
43	chr6:12108200-12120200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:12108400-12116600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:12108400-12116800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:12108400-12120400	Weak transcription	Colonic Mucosa	Colon
47	chr6:12108600-12120200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:12108600-12120400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:12108800-12113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:12109000-12111400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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