Variant report

Variant	rs12280222
Chromosome Location	chr11:73579043-73579044
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73567413..73569720-chr11:73578293..73583542,5	MCF-7	breast:
2	chr11:73578838..73580724-chr11:73585708..73589795,5	MCF-7	breast:
3	chr11:73570812..73572958-chr11:73578378..73580627,2	K562	blood:
4	chr11:73576169..73580357-chr11:73581447..73584221,5	MCF-7	breast:
5	chr11:73484187..73487136-chr11:73577769..73579675,2	K562	blood:
6	chr11:73570812..73572971-chr11:73578378..73580940,3	K562	blood:
7	chr11:73569201..73571625-chr11:73578467..73580588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1122373	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11235909	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11235921	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235924	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235944	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11235956	0.89[ASN][1000 genomes]
rs11828006	0.85[ASN][1000 genomes]
rs12269892	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12284235	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12284670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12287418	0.88[ASN][1000 genomes]
rs12291665	0.89[ASN][1000 genomes]
rs12294934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12295206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420040	0.90[ASN][1000 genomes]
rs12577447	0.85[ASN][1000 genomes]
rs1670539	1.00[CHB][hapmap]
rs17132305	1.00[CEU][hapmap]
rs17132368	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17132495	1.00[CHB][hapmap]
rs2010583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2067913	1.00[CHB][hapmap]
rs3741138	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs3741139	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56006060	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56380005	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58695771	1.00[ASN][1000 genomes]
rs59716840	0.85[ASN][1000 genomes]
rs7111424	0.85[ASN][1000 genomes]
rs7116620	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73549968	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs935985	1.00[CHB][hapmap]
rs935988	1.00[CHB][hapmap]

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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv983206	chr11:73565238-73580462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 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	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
3	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
4	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
5	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
8	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
10	chr11:73550400-73582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:73556200-73580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:73561200-73579800	Weak transcription	Fetal Lung	lung
13	chr11:73564400-73586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:73567600-73582200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:73567800-73580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:73571400-73586000	Weak transcription	Right Atrium	heart
17	chr11:73571600-73586200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:73572600-73579800	Weak transcription	Psoas Muscle	Psoas
19	chr11:73573000-73586200	Weak transcription	Fetal Brain Male	brain
20	chr11:73573200-73584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:73575400-73586000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:73575600-73580400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:73575600-73580600	Weak transcription	K562	blood
24	chr11:73575600-73580800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:73575600-73582600	Weak transcription	Fetal Kidney	kidney
26	chr11:73575600-73583200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:73575600-73583800	Weak transcription	Spleen	Spleen
28	chr11:73575800-73579400	Weak transcription	Fetal Brain Female	brain
29	chr11:73575800-73580200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:73575800-73580400	Weak transcription	Gastric	stomach
31	chr11:73575800-73580600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:73575800-73581400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:73575800-73582200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:73575800-73583200	Weak transcription	Right Ventricle	heart
35	chr11:73575800-73583400	Weak transcription	Brain Angular Gyrus	brain
36	chr11:73575800-73583600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:73576000-73581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:73576000-73582400	Weak transcription	Adipose Nuclei	Adipose
39	chr11:73576000-73582400	Weak transcription	Brain Substantia Nigra	brain
40	chr11:73576000-73582600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:73576200-73579800	Weak transcription	Placenta	Placenta
42	chr11:73576400-73579600	Weak transcription	Liver	Liver
43	chr11:73576400-73579600	Weak transcription	Fetal Stomach	stomach
44	chr11:73576400-73579800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:73576400-73581200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:73576400-73581400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:73576400-73582400	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:73576400-73582600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:73576400-73583000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:73576400-73586000	Weak transcription	Brain Inferior Temporal Lobe	brain

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