Variant report

Variant	rs1784934
Chromosome Location	chr11:121337993-121337994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:121336740..121338546-chr11:121339651..121341207,2	MCF-7	breast:
2	chr11:121335936..121338346-chr11:121344006..121346639,3	MCF-7	breast:
3	chr11:121328578..121330847-chr11:121337698..121340235,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs12798073	0.87[JPT][hapmap]
rs4936632	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs523917	0.95[JPT][hapmap];0.81[YRI][hapmap]
rs560573	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs593769	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs596437	0.95[JPT][hapmap]
rs618874	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs624310	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs640515	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs641120	0.87[JPT][hapmap];0.81[YRI][hapmap]
rs643010	0.93[ASN][1000 genomes]
rs645275	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs652067	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs661057	0.92[MEX][hapmap]
rs662821	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs668387	0.95[JPT][hapmap]
rs676759	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs687228	0.87[JPT][hapmap]
rs689021	0.87[JPT][hapmap]
rs693855	0.83[JPT][hapmap]
rs923892	0.95[JPT][hapmap]

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	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1784934	MLL	cis	cerebellum	SCAN
rs1784934	HEPACAM	cis	cerebellum	SCAN
rs1784934	CD3G	cis	cerebellum	SCAN
rs1784934	PAFAH1B2	cis	parietal	SCAN
rs1784934	TMEM25	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121325400-121338000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr11:121331600-121341200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:121331800-121339000	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:121332000-121338800	Enhancers	Brain Angular Gyrus	brain
5	chr11:121332000-121339800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:121332800-121339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:121333000-121340600	Enhancers	Fetal Thymus	thymus
8	chr11:121333200-121343400	Enhancers	Liver	Liver
9	chr11:121333400-121340800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:121333600-121338200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:121333600-121339000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:121333600-121340000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:121333800-121339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:121333800-121340000	Enhancers	Brain Substantia Nigra	brain
15	chr11:121334000-121340000	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:121334200-121339800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:121334200-121340000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:121334200-121340800	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:121334400-121338600	Enhancers	Primary B cells from cord blood	blood
20	chr11:121334400-121338800	Enhancers	Fetal Intestine Large	intestine
21	chr11:121334400-121339000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:121334400-121339200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:121334600-121338600	Enhancers	Colon Smooth Muscle	Colon
24	chr11:121334600-121338600	Enhancers	HUVEC	blood vessel
25	chr11:121334600-121338800	Enhancers	HepG2	liver
26	chr11:121334600-121339000	Enhancers	NHLF	lung
27	chr11:121334600-121339200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:121334600-121340000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:121334800-121338000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:121335000-121338000	Enhancers	Osteobl	bone
31	chr11:121335000-121338400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:121335000-121339000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:121335200-121338000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:121335200-121338000	Enhancers	NHDF-Ad	bronchial
35	chr11:121335200-121338200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:121335200-121339000	Enhancers	Placenta	Placenta
37	chr11:121335200-121339200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:121335200-121339800	Enhancers	Thymus	Thymus
39	chr11:121335400-121339200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:121335400-121339200	Enhancers	Fetal Stomach	stomach
41	chr11:121335400-121340200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:121335600-121338000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr11:121335600-121340600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:121336000-121338200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:121336200-121338600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:121336400-121339800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:121336400-121340000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:121336600-121338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:121336600-121338200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:121336600-121338200	Enhancers	Skeletal Muscle Female	skeletal muscle

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