Variant report

Variant	rs869616
Chromosome Location	chr11:73868065-73868066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73866026..73868327-chr11:73881526..73883855,2	K562	blood:
2	chr11:73867295..73869674-chr11:73870591..73872466,2	K562	blood:

Variant related genes	Relation type
ENSG00000168014	Chromatin interaction
ENSG00000214517	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11236004	0.92[ASN][1000 genomes]
rs11236006	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236008	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236024	0.88[YRI][hapmap]
rs11236028	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11825568	0.81[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11825974	0.83[EUR][1000 genomes]
rs12146632	0.88[YRI][hapmap]
rs1291934	0.94[ASN][1000 genomes]
rs15763	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs1626521	0.93[JPT][hapmap]
rs1685354	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs1790400	0.84[ASN][1000 genomes]
rs2632723	0.93[JPT][hapmap]
rs2734827	0.93[JPT][hapmap]
rs2848557	1.00[CHD][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs3018185	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4522190	0.81[EUR][1000 genomes]
rs4944880	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs530699	0.87[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544356	0.81[CHD][hapmap]
rs555964	0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs58006161	0.95[ASN][1000 genomes]
rs60647229	0.92[ASN][1000 genomes]
rs668514	0.93[JPT][hapmap]
rs699142	0.83[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap]
rs7130254	0.81[MKK][hapmap];0.88[YRI][hapmap]
rs72984885	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72984886	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925988	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs826054	0.83[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs826057	0.83[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap]
rs826058	0.83[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap]
rs866650	0.82[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs869616	RSF1	cis	parietal	SCAN
rs869616	PPME1	cis	cerebellum	SCAN
rs869616	C2CD3	cis	parietal	SCAN
rs869616	MRPL48	cis	cerebellum	SCAN
rs869616	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs869616	UCP2	cis	multi-tissue	Pritchard
rs869616	PGM2L1	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
2	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
3	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
6	chr11:73829400-73873800	Weak transcription	Right Ventricle	heart
7	chr11:73844800-73880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:73847200-73869800	Weak transcription	Fetal Kidney	kidney
9	chr11:73847800-73870800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:73847800-73875000	Weak transcription	Fetal Lung	lung
11	chr11:73847800-73875200	Weak transcription	Left Ventricle	heart
12	chr11:73847800-73880800	Weak transcription	Spleen	Spleen
13	chr11:73848000-73873000	Weak transcription	GM12878-XiMat	blood
14	chr11:73849600-73873800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:73849600-73875000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:73850200-73870800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:73850200-73879600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:73850600-73869800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:73850800-73869000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:73850800-73869800	Weak transcription	Dnd41	blood
21	chr11:73850800-73870000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:73850800-73871000	Weak transcription	Liver	Liver
23	chr11:73850800-73872200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:73850800-73875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:73850800-73875600	Weak transcription	Brain Germinal Matrix	brain
26	chr11:73851000-73871400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:73852000-73877000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:73852600-73870000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:73852600-73873800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:73852800-73868800	Weak transcription	K562	blood
31	chr11:73852800-73869800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:73852800-73877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:73852800-73878000	Weak transcription	Psoas Muscle	Psoas
34	chr11:73853200-73869800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:73853400-73875200	Weak transcription	Adipose Nuclei	Adipose
36	chr11:73853800-73875200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:73854000-73881000	Weak transcription	Lung	lung
38	chr11:73858600-73873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:73858600-73880200	Weak transcription	NHLF	lung
40	chr11:73858600-73880800	Weak transcription	Ovary	ovary
41	chr11:73858600-73881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:73859000-73880000	Weak transcription	HepG2	liver
43	chr11:73860000-73873000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:73860000-73880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:73860800-73869800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:73861000-73868800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:73861000-73874400	Weak transcription	Fetal Intestine Large	intestine
48	chr11:73862200-73877400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:73864000-73875800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:73864600-73871400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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