Variant report

Variant	rs2014868
Chromosome Location	chr11:9281497-9281498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9280283..9284052-chr11:9480147..9483704,4	K562	blood:
2	chr11:9280208..9281989-chr11:9282127..9285333,4	K562	blood:
3	chr11:9280208..9283661-chr11:9285464..9288886,5	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11042217	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042220	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11607384	0.81[EUR][1000 genomes]
rs12807631	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4910037	0.86[EUR][1000 genomes]
rs56294473	0.89[EUR][1000 genomes]
rs60693427	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66554737	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67890540	0.88[EUR][1000 genomes]
rs7130400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7394869	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7395631	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7926864	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7929621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 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	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:9262400-9282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:9264000-9283400	Weak transcription	Fetal Lung	lung
7	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
10	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:9270200-9282000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:9272000-9282000	Weak transcription	NHDF-Ad	bronchial
14	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
15	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
16	chr11:9272200-9281600	Weak transcription	Hela-S3	cervix
17	chr11:9272200-9281600	Weak transcription	Osteobl	bone
18	chr11:9272400-9281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:9272400-9282000	Weak transcription	NHLF	lung
20	chr11:9272400-9282800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
22	chr11:9273200-9282600	Weak transcription	Thymus	Thymus
23	chr11:9273200-9285400	Weak transcription	K562	blood
24	chr11:9274600-9285400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:9274800-9282000	Weak transcription	HepG2	liver
26	chr11:9274800-9283400	Weak transcription	Placenta	Placenta
27	chr11:9275000-9281600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:9275000-9282800	Weak transcription	NH-A	brain
29	chr11:9275200-9282400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:9275200-9285400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:9275400-9281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:9275400-9281800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:9275400-9281800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:9275400-9282000	Weak transcription	Spleen	Spleen
35	chr11:9275400-9282400	Weak transcription	Fetal Thymus	thymus
36	chr11:9275400-9282600	Weak transcription	Lung	lung
37	chr11:9276400-9281600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:9276400-9282000	Weak transcription	HUVEC	blood vessel
39	chr11:9277000-9281800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:9277000-9281800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:9277200-9283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:9277200-9283600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:9277400-9281800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:9277400-9282600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:9277600-9281600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:9277600-9281800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:9277600-9282600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:9277600-9285400	Weak transcription	Fetal Intestine Small	intestine
49	chr11:9277800-9281600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:9277800-9282000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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