Variant report

Variant	rs7944706
Chromosome Location	chr11:10331311-10331312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10314422..10317147-chr11:10327890..10331590,5	MCF-7	breast:
2	chr11:9596850..9599628-chr11:10329310..10331865,2	MCF-7	breast:
3	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133812	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000238387	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10500724	0.89[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs10743133	0.81[EUR][1000 genomes]
rs10770104	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10840380	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10840382	0.80[EUR][1000 genomes]
rs11042702	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs11042714	0.92[CEU][hapmap]
rs11042716	0.81[EUR][1000 genomes]
rs11042719	0.82[EUR][1000 genomes]
rs11607174	0.92[CEU][hapmap]
rs1442738	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2060658	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs2083716	0.81[EUR][1000 genomes]
rs4323860	0.92[CEU][hapmap]
rs4418806	0.87[EUR][1000 genomes]
rs4442543	0.80[EUR][1000 genomes]
rs4597056	0.92[CEU][hapmap];0.82[TSI][hapmap]
rs4910097	0.96[CEU][hapmap]
rs4910107	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs4910108	0.82[EUR][1000 genomes]
rs4910115	0.92[CEU][hapmap]
rs56776911	0.87[EUR][1000 genomes]
rs6484147	0.92[CEU][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs6484148	0.91[CEU][hapmap]
rs6484152	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs6484160	0.80[EUR][1000 genomes]
rs7106998	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7107290	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7108358	0.92[CEU][hapmap]
rs7110652	0.92[CEU][hapmap]
rs7115944	1.00[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs7118500	0.92[CEU][hapmap]
rs7123728	0.92[CEU][hapmap]
rs726102	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs7479039	0.92[CEU][hapmap]
rs7924631	0.88[EUR][1000 genomes]
rs7938543	0.92[CEU][hapmap]
rs7945930	0.82[EUR][1000 genomes]
rs7947666	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs7950461	0.83[EUR][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7944706	TRIM66	cis	cerebellum	SCAN
rs7944706	RP11-351I24.1	cis	Whole Blood	GTEx
rs7944706	LYVE1	cis	parietal	SCAN
rs7944706	SYT9	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10329400-10332200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:10329800-10332400	Enhancers	Fetal Heart	heart
3	chr11:10330000-10331400	Enhancers	Lung	lung
4	chr11:10330000-10331400	Enhancers	Pancreas	Pancrea
5	chr11:10330000-10331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:10330000-10331800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:10330000-10331800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:10330000-10331800	Enhancers	Liver	Liver
9	chr11:10330000-10331800	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:10330000-10332200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:10330000-10332200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:10330000-10334400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:10330200-10331400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:10330200-10331400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:10330200-10331400	Flanking Active TSS	A549	lung
16	chr11:10330200-10331400	Enhancers	NH-A	brain
17	chr11:10330200-10331800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:10330200-10331800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:10330200-10331800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:10330200-10332000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:10330200-10332200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:10330200-10332200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:10330200-10332200	Enhancers	HUVEC	blood vessel
24	chr11:10330200-10332400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:10330200-10332400	Enhancers	Colon Smooth Muscle	Colon
26	chr11:10330200-10332400	Enhancers	Small Intestine	intestine
27	chr11:10330200-10332400	Enhancers	HMEC	breast
28	chr11:10330200-10332400	Enhancers	K562	blood
29	chr11:10330200-10338600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:10330400-10331400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:10330400-10331400	Enhancers	Placenta	Placenta
32	chr11:10330400-10332400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:10330400-10332400	Enhancers	Stomach Mucosa	stomach
34	chr11:10330600-10331400	Enhancers	Ovary	ovary
35	chr11:10330600-10331600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr11:10330600-10332000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:10330600-10332200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:10330600-10332400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:10330800-10331400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:10330800-10331400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr11:10330800-10331600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:10330800-10332200	Enhancers	Gastric	stomach
43	chr11:10330800-10332400	Enhancers	Right Atrium	heart
44	chr11:10330800-10339400	Weak transcription	Psoas Muscle	Psoas
45	chr11:10330800-10344400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:10331000-10331400	Enhancers	Fetal Lung	lung
47	chr11:10331000-10331400	Enhancers	Fetal Stomach	stomach
48	chr11:10331000-10331400	Enhancers	NHLF	lung
49	chr11:10331000-10331600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:10331000-10331600	Weak transcription	Aorta	Aorta

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