Variant report

Variant	rs2037311
Chromosome Location	chr11:45873448-45873449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
2	chr11:45872396..45874327-chr11:45903903..45905625,2	K562	blood:
3	chr11:45872954..45875502-chr11:45891809..45894357,2	K562	blood:
4	chr11:45873444..45876329-chr4:74608235..74610589,2	MCF-7	breast:
5	chr11:45871422..45873993-chr11:45887047..45888663,2	K562	blood:
6	chr11:45867823..45873583-chr11:45876186..45881298,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction
ENSG00000181830	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10838518	0.87[AMR][1000 genomes]
rs10838523	1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281069	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12281674	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284956	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];1.00[ASN][1000 genomes]
rs1554338	0.89[JPT][hapmap]
rs4756038	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73466394	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73468311	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2037311	DNALI1	trans	brain	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45869800-45873600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:45869800-45874000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:45869800-45883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:45870200-45875200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr11:45870400-45873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:45870400-45873800	Weak transcription	Primary B cells from cord blood	blood
7	chr11:45870400-45875400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:45870400-45875600	Genic enhancers	Fetal Muscle Leg	muscle
9	chr11:45870400-45876400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:45870400-45878600	Weak transcription	HUVEC	blood vessel
11	chr11:45870600-45873600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:45870600-45873800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:45870600-45873800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:45870600-45873800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:45870600-45873800	Weak transcription	Fetal Stomach	stomach
16	chr11:45870600-45874000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:45870600-45875200	Weak transcription	Thymus	Thymus
18	chr11:45870600-45876600	Weak transcription	Fetal Thymus	thymus
19	chr11:45870600-45877000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:45870600-45877200	Enhancers	Left Ventricle	heart
21	chr11:45870600-45877400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:45870600-45877400	Weak transcription	Hela-S3	cervix
23	chr11:45870600-45877600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:45870600-45878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:45870600-45879800	Weak transcription	Esophagus	oesophagus
26	chr11:45870800-45873600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:45870800-45873800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:45870800-45876800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:45870800-45876800	Weak transcription	Brain Germinal Matrix	brain
30	chr11:45870800-45877000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:45870800-45877200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:45870800-45880800	Weak transcription	HMEC	breast
33	chr11:45871000-45873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:45871000-45874600	Enhancers	NHDF-Ad	bronchial
35	chr11:45871000-45875000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:45871000-45877000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:45871000-45877000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:45871000-45877600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr11:45871000-45878600	Weak transcription	Fetal Kidney	kidney
40	chr11:45871200-45873800	Weak transcription	Fetal Intestine Small	intestine
41	chr11:45871200-45874000	Weak transcription	Small Intestine	intestine
42	chr11:45871200-45875400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:45871200-45875800	Enhancers	Psoas Muscle	Psoas
44	chr11:45871600-45874400	Enhancers	Spleen	Spleen
45	chr11:45871600-45875000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:45871600-45875200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:45871600-45876600	Enhancers	Brain Anterior Caudate	brain
48	chr11:45871800-45875200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr11:45872000-45875000	Enhancers	Colon Smooth Muscle	Colon
50	chr11:45872200-45873600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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