Variant report

Variant	rs7939212
Chromosome Location	chr11:72021876-72021877
allele	G/T
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	MXI1	chr11:72018331-72021953	SK-N-SH	brain:	n/a	chr11:72018888-72018897 chr11:72019902-72019917
2	EP300	chr11:72016637-72022225	SK-N-SH	brain:	n/a	chr11:72016707-72016716 chr11:72019700-72019707 chr11:72020290-72020303

No.	Distal block	Cell Line	Cell type
1	chr11:72021004..72022760-chr11:72043525..72046004,2	MCF-7	breast:
2	chr11:72012876..72015217-chr11:72020689..72023878,3	K562	blood:
3	chr11:72021267..72023615-chr11:72031503..72033339,2	K562	blood:

Variant related genes	Relation type
CLPB	TF binding region
ENSG00000255843	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1160142	0.85[EUR][1000 genomes]
rs17160018	0.80[EUR][1000 genomes]
rs17162150	0.85[EUR][1000 genomes]
rs57380316	0.85[EUR][1000 genomes]
rs57402767	0.80[EUR][1000 genomes]
rs58058345	0.85[EUR][1000 genomes]
rs58515298	0.85[EUR][1000 genomes]
rs58571741	0.85[EUR][1000 genomes]
rs61889249	1.00[ASN][1000 genomes]
rs7107393	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109307	0.85[EUR][1000 genomes]
rs7109466	0.87[EUR][1000 genomes]
rs7114507	1.00[ASN][1000 genomes]
rs7127051	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528860	0.83[EUR][1000 genomes]
rs7927430	0.85[EUR][1000 genomes]
rs7936281	1.00[ASN][1000 genomes]
rs7938979	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7940087	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947482	0.85[EUR][1000 genomes]
rs7950298	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:72001000-72039800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72001800-72032600	Weak transcription	A549	lung
4	chr11:72002000-72025400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:72002200-72025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:72002600-72024000	Weak transcription	Small Intestine	intestine
7	chr11:72002800-72025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:72002800-72044600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:72003200-72025800	Strong transcription	Primary T cells from cord blood	blood
10	chr11:72003200-72026800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:72003200-72028600	Strong transcription	Lung	lung
12	chr11:72003200-72029000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:72003200-72031200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:72003200-72033600	Strong transcription	Dnd41	blood
15	chr11:72003200-72034200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:72003200-72034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:72003200-72041800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:72003200-72041800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:72005200-72025600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:72006000-72034600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:72006200-72040000	Weak transcription	Stomach Mucosa	stomach
22	chr11:72006800-72025800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:72008400-72025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:72008400-72044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:72011600-72025200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:72012800-72070600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:72013200-72025800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:72013400-72024400	Weak transcription	Brain Substantia Nigra	brain
29	chr11:72013600-72024000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:72013600-72040200	Weak transcription	Fetal Kidney	kidney
31	chr11:72013600-72040800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:72013800-72024000	Weak transcription	Right Ventricle	heart
33	chr11:72013800-72025000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:72013800-72025200	Weak transcription	Fetal Thymus	thymus
35	chr11:72014000-72026800	Weak transcription	Brain Angular Gyrus	brain
36	chr11:72014400-72032600	Weak transcription	HUVEC	blood vessel
37	chr11:72014600-72045000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:72014800-72025200	Weak transcription	Thymus	Thymus
39	chr11:72015000-72026800	Weak transcription	Ovary	ovary
40	chr11:72016600-72029000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:72016800-72024800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:72017000-72023800	Weak transcription	Esophagus	oesophagus
43	chr11:72017400-72023400	Weak transcription	Brain Anterior Caudate	brain
44	chr11:72018200-72023800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:72018400-72023400	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:72018400-72025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:72018800-72025600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:72018800-72027000	Weak transcription	Hela-S3	cervix
49	chr11:72019000-72022400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:72019000-72023600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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