Variant report

Variant	rs12270224
Chromosome Location	chr11:107924481-107924482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107922358..107925509-chr11:107926340..107929745,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789652	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10890810	0.91[EUR][1000 genomes]
rs11212483	0.97[ASN][1000 genomes]
rs11212486	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212512	0.91[EUR][1000 genomes]
rs11604711	0.97[ASN][1000 genomes]
rs11823929	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12277368	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12416788	0.97[ASN][1000 genomes]
rs12418673	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12421527	0.97[ASN][1000 genomes]
rs12803043	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs15677	0.88[EUR][1000 genomes]
rs17679325	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2271853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35185685	0.97[ASN][1000 genomes]
rs35237843	0.90[ASN][1000 genomes]
rs35583347	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3858392	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3908131	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4753827	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56214765	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67456286	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7104942	0.98[EUR][1000 genomes]
rs7105163	0.99[EUR][1000 genomes]
rs7106930	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7120705	0.98[EUR][1000 genomes]
rs7121568	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7122356	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7949655	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1047984	chr11:107794729-107950746	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107884400-107926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:107884400-107942000	Weak transcription	Esophagus	oesophagus
3	chr11:107884800-107929200	Weak transcription	NHEK	skin
4	chr11:107890800-107926800	Weak transcription	Hela-S3	cervix
5	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:107891000-107965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:107891200-107966200	Weak transcription	Small Intestine	intestine
8	chr11:107896400-107927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:107896600-107926600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:107896600-107962000	Weak transcription	Right Ventricle	heart
11	chr11:107898000-107924600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:107901600-107933800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:107903000-107927800	Weak transcription	Fetal Brain Male	brain
15	chr11:107903400-107935200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:107903600-107957600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:107903800-107938000	Strong transcription	Dnd41	blood
18	chr11:107904200-107924800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:107904400-107933800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:107905400-107925800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:107906000-107925400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:107906000-107934600	Weak transcription	Brain Angular Gyrus	brain
23	chr11:107906600-107927400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:107906800-107942000	Weak transcription	Aorta	Aorta
25	chr11:107906800-107945600	Weak transcription	Spleen	Spleen
26	chr11:107906800-107947000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:107907200-107933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:107908200-107926600	Weak transcription	Psoas Muscle	Psoas
29	chr11:107908200-107964000	Weak transcription	Fetal Heart	heart
30	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:107908600-107924800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:107908600-107925000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:107908600-107929400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:107908600-107940800	Weak transcription	A549	lung
35	chr11:107908800-107925000	Weak transcription	NHDF-Ad	bronchial
36	chr11:107908800-107927200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:107908800-107939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:107909200-107941000	Weak transcription	NHLF	lung
39	chr11:107909400-107925200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:107910400-107925000	Weak transcription	HSMM	muscle
41	chr11:107914000-107926600	Weak transcription	Colonic Mucosa	Colon
42	chr11:107914800-107937800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:107914800-107955800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:107916000-107930200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:107916000-107933800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:107916000-107938200	Strong transcription	Adipose Nuclei	Adipose
47	chr11:107916200-107935000	Strong transcription	Liver	Liver
48	chr11:107916200-107938600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:107916400-107934800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:107917000-107925000	Weak transcription	HMEC	breast

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