Variant report

Variant	rs10400327
Chromosome Location	chr11:71778075-71778076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71776490..71778244-chr11:71818922..71820939,2	K562	blood:
2	chr11:71777361..71780119-chr11:71790891..71793278,3	MCF-7	breast:
3	chr11:71743810..71760160-chr11:71777190..71805714,79	MCF-7	breast:
4	chr11:71776798..71779888-chr11:71780509..71784751,5	K562	blood:
5	chr11:71777400..71779303-chr11:72480443..72481955,2	MCF-7	breast:
6	chr11:71751703..71754028-chr11:71776136..71778243,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAMTOR1-3	chr11:71776245-71779277	NONHSAT022749

No data

Variant related genes	Relation type
ENSG00000263742	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000206783	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1540087	1.00[MEX][hapmap]
rs17162064	1.00[MEX][hapmap]
rs17162069	1.00[MEX][hapmap]
rs1892922	0.82[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2096784	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3763796	1.00[MEX][hapmap]
rs57198333	1.00[AMR][1000 genomes]
rs5743667	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743673	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743684	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs58109845	1.00[AMR][1000 genomes]
rs58569034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58860532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58986282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59603657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59704482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60401386	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840528	1.00[AMR][1000 genomes]
rs61225837	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102392	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109250	1.00[MEX][hapmap]
rs7110215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125189	1.00[MEX][hapmap]
rs7925196	1.00[AMR][1000 genomes]
rs7925545	1.00[MEX][hapmap]
rs7932163	1.00[YRI][hapmap]
rs7945535	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7949845	0.86[AFR][1000 genomes];1.00[AMR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10400327	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71754200-71780200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:71754200-71780400	Weak transcription	Aorta	Aorta
3	chr11:71754200-71789600	Weak transcription	Fetal Brain Female	brain
4	chr11:71754800-71781000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:71755000-71780800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:71755200-71780400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:71755400-71783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:71756200-71783200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:71757000-71783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:71760000-71780400	Weak transcription	Left Ventricle	heart
11	chr11:71760400-71778200	Weak transcription	Fetal Kidney	kidney
12	chr11:71760400-71778600	Weak transcription	Fetal Lung	lung
13	chr11:71760400-71778800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:71760400-71780200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:71760400-71780400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:71760400-71780400	Weak transcription	Liver	Liver
17	chr11:71760400-71780400	Weak transcription	Ovary	ovary
18	chr11:71760400-71780600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:71760600-71780400	Weak transcription	Gastric	stomach
20	chr11:71760600-71780800	Weak transcription	Spleen	Spleen
21	chr11:71761400-71778600	Weak transcription	Placenta	Placenta
22	chr11:71767400-71786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:71768000-71780200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:71768000-71780400	Weak transcription	Small Intestine	intestine
25	chr11:71769200-71780400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:71769600-71780000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:71770000-71780400	Weak transcription	Right Ventricle	heart
28	chr11:71770000-71783200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:71770400-71780200	Weak transcription	HSMMtube	muscle
30	chr11:71770600-71781000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:71771400-71780600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:71771600-71779200	Weak transcription	Esophagus	oesophagus
33	chr11:71771600-71780000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:71771600-71789800	Weak transcription	Fetal Brain Male	brain
35	chr11:71773200-71779000	Weak transcription	Thymus	Thymus
36	chr11:71773200-71779200	Weak transcription	Lung	lung
37	chr11:71773200-71780000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:71773200-71780000	Weak transcription	NH-A	brain
39	chr11:71773200-71783200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:71773400-71778400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:71773400-71779000	Weak transcription	HepG2	liver
42	chr11:71773400-71780000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:71773600-71780400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:71773600-71783000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:71774400-71778200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:71774600-71779000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:71774600-71779800	Weak transcription	HMEC	breast
48	chr11:71774600-71780400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:71775000-71778200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:71775800-71779000	Weak transcription	Fetal Intestine Small	intestine

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