Variant report

Variant	rs10838721
Chromosome Location	chr11:47509017-47509018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:47508974-47509307	SK-N-SH_RA	brain:	n/a	chr11:47509113-47509122
2	SMC3	chr11:47508972-47509095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47507562..47509697-chr11:47535519..47538073,2	K562	blood:
2	chr11:47507132..47509258-chr11:47514352..47516809,2	MCF-7	breast:
3	chr11:47500961..47505099-chr11:47507828..47511495,3	K562	blood:
4	chr11:47508773..47510802-chr11:47519737..47522301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265467	TF binding region
CELF1	TF binding region
ENSG00000149187	Chromatin interaction
ENSG00000270072	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10838707	0.81[AMR][1000 genomes]
rs11039256	1.00[AFR][1000 genomes]
rs11039306	1.00[AFR][1000 genomes]
rs11039339	1.00[AFR][1000 genomes]
rs12221935	1.00[AFR][1000 genomes]
rs12422023	1.00[AMR][1000 genomes]
rs60133324	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7109918	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7110333	0.89[EUR][1000 genomes]
rs7130107	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr11:47480000-47510000	Strong transcription	Thymus	Thymus
2	chr11:47480800-47511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:47480800-47511400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:47483600-47511400	Strong transcription	Dnd41	blood
5	chr11:47484800-47510600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:47484800-47511000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:47485200-47511400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:47485400-47511400	Strong transcription	Primary B cells from cord blood	blood
9	chr11:47485600-47511000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:47485800-47518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:47486000-47510000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:47486200-47511200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:47486200-47511200	Strong transcription	Primary T cells from cord blood	blood
14	chr11:47486400-47510200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:47488200-47510800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:47488200-47511200	Strong transcription	GM12878-XiMat	blood
17	chr11:47488400-47509800	Strong transcription	Placenta	Placenta
18	chr11:47488800-47510800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:47489200-47510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
21	chr11:47489400-47510800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:47489800-47509200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr11:47489800-47510000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr11:47489800-47510600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:47490000-47510600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:47490000-47511000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr11:47490600-47509400	Strong transcription	Fetal Lung	lung
28	chr11:47490800-47510800	Strong transcription	HSMMtube	muscle
29	chr11:47491400-47510600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47491400-47510600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:47491400-47511000	Strong transcription	A549	lung
32	chr11:47491400-47512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:47491600-47509600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:47491600-47509800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:47491600-47510000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:47491600-47511400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:47491800-47511400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:47492200-47510400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:47492200-47510800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:47492400-47511000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:47492400-47511400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:47492600-47509600	Strong transcription	HepG2	liver
43	chr11:47492600-47510600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:47492600-47510800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:47492600-47511000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:47492600-47511200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:47493000-47509800	Strong transcription	Colon Smooth Muscle	Colon
48	chr11:47493400-47512000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:47493600-47509200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:47496200-47509200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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