Variant report

Variant	rs12287003
Chromosome Location	chr11:67023069-67023070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67020501..67023189-chr11:67083754..67086719,3	K562	blood:
2	chr11:67021020..67023893-chr11:67133408..67136013,2	K562	blood:

Variant related genes	Relation type
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10128545	1.00[AMR][1000 genomes]
rs11227681	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227704	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227705	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227708	1.00[AMR][1000 genomes]
rs11227734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227739	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227741	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227754	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11501507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270253	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274690	1.00[AMR][1000 genomes]
rs12274763	1.00[AMR][1000 genomes]
rs12275826	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.83[AMR][1000 genomes]
rs12282851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284445	1.00[AMR][1000 genomes]
rs12284546	0.81[YRI][hapmap]
rs12285582	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286106	1.00[AMR][1000 genomes]
rs12286762	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287649	0.93[YRI][hapmap]
rs12290300	1.00[AMR][1000 genomes]
rs12292708	0.82[AFR][1000 genomes]
rs12293258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294777	1.00[AMR][1000 genomes]
rs3730145	0.81[YRI][hapmap]
rs3730309	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730310	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4370946	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61758504	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111472	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128315	0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7478885	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945629	1.00[AMR][1000 genomes]
rs948988	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67009200-67028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:67009600-67025400	Strong transcription	Fetal Thymus	thymus
3	chr11:67010000-67025000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:67010000-67026600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:67010200-67024400	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr11:67010200-67024600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:67010200-67025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:67010200-67025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:67010200-67025000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:67010200-67025000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:67010200-67025400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:67010200-67025400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:67010200-67025800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:67010200-67026600	Strong transcription	Fetal Stomach	stomach
15	chr11:67010400-67024600	Strong transcription	HUVEC	blood vessel
16	chr11:67010400-67025000	Strong transcription	Fetal Brain Female	brain
17	chr11:67010400-67025000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:67010400-67025000	Strong transcription	Thymus	Thymus
19	chr11:67010400-67025000	Strong transcription	NH-A	brain
20	chr11:67010400-67026200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:67010600-67024400	Strong transcription	Psoas Muscle	Psoas
22	chr11:67010600-67024800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:67010600-67025000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:67010600-67025000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:67010600-67025000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:67010600-67026400	Strong transcription	Fetal Muscle Leg	muscle
27	chr11:67010600-67026600	Strong transcription	Fetal Intestine Large	intestine
28	chr11:67010800-67024400	Strong transcription	Colon Smooth Muscle	Colon
29	chr11:67010800-67024600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:67010800-67025000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:67010800-67025000	Strong transcription	Dnd41	blood
32	chr11:67011000-67025000	Strong transcription	Rectal Smooth Muscle	rectum
33	chr11:67011400-67024600	Strong transcription	Brain Hippocampus Middle	brain
34	chr11:67011400-67024800	Strong transcription	Primary B cells from cord blood	blood
35	chr11:67011600-67025800	Strong transcription	Brain Germinal Matrix	brain
36	chr11:67011800-67023200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:67011800-67025000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:67011800-67028200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:67012000-67024200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:67012200-67025400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:67012400-67024400	Strong transcription	Ovary	ovary
42	chr11:67012600-67025000	Strong transcription	Aorta	Aorta
43	chr11:67012600-67025000	Strong transcription	Pancreas	Pancrea
44	chr11:67012600-67025000	Strong transcription	Right Ventricle	heart
45	chr11:67013400-67025000	Strong transcription	Fetal Lung	lung
46	chr11:67013600-67023200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:67014000-67024800	Genic enhancers	Liver	Liver
48	chr11:67014800-67023600	Strong transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:67016000-67024800	Strong transcription	A549	lung
50	chr11:67016000-67025000	Strong transcription	Hela-S3	cervix

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