Variant report

Variant	rs12271652
Chromosome Location	chr11:65333673-65333674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:65333399-65333690	GM12891	blood:	n/a	chr11:65333539-65333552 chr11:65333541-65333550 chr11:65333540-65333553
2	SPI1	chr11:65333285-65333736	HL-60	blood:	n/a	chr11:65333539-65333552 chr11:65333541-65333550 chr11:65333540-65333553
3	SPI1	chr11:65333388-65333713	GM12891	blood:	n/a	chr11:65333539-65333552 chr11:65333541-65333550 chr11:65333540-65333553
4	ZNF384	chr11:65333494-65333712	K562	blood:	n/a	n/a
5	FOS	chr11:65333387-65333723	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:65333361-65333703	HUVEC	blood vessel:	n/a	n/a
7	STAT3	chr11:65333453-65333703	MCF10A-Er-Src	breast:	n/a	n/a
8	ZNF384	chr11:65333439-65333832	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTBP3-1	chr11:65333533-65337942	NONHSAT022168

Variant related genes	Relation type
SSSCA1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11385	1.00[CHD][hapmap]
rs11545201	1.00[CHD][hapmap]
rs11545202	1.00[CHD][hapmap]
rs11548537	1.00[CHD][hapmap]
rs11568302	1.00[YRI][hapmap]
rs3015963	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
6	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
7	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
8	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
9	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
10	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
11	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
12	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
13	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
14	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
15	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65326800-65334200	Weak transcription	Small Intestine	intestine
2	chr11:65326800-65336800	Weak transcription	Aorta	Aorta
3	chr11:65328600-65336400	Weak transcription	Fetal Brain Female	brain
4	chr11:65328600-65336400	Weak transcription	Gastric	stomach
5	chr11:65328800-65333800	Weak transcription	Esophagus	oesophagus
6	chr11:65328800-65334000	Weak transcription	Fetal Intestine Large	intestine
7	chr11:65328800-65334200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:65328800-65334400	Weak transcription	Brain Substantia Nigra	brain
9	chr11:65328800-65335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:65328800-65335800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:65328800-65336000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:65328800-65336200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:65328800-65336200	Weak transcription	Fetal Brain Male	brain
14	chr11:65328800-65336200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:65328800-65336200	Weak transcription	Right Atrium	heart
16	chr11:65328800-65336400	Weak transcription	Left Ventricle	heart
17	chr11:65329000-65333800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:65329000-65333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:65329000-65333800	Weak transcription	Fetal Intestine Small	intestine
20	chr11:65329000-65334000	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:65329000-65334200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:65329000-65334200	Weak transcription	Brain Anterior Caudate	brain
23	chr11:65329000-65334200	Weak transcription	Lung	lung
24	chr11:65329000-65334200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:65329000-65334200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:65329000-65334400	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:65329000-65335400	Weak transcription	Liver	Liver
28	chr11:65329000-65336000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:65329000-65336200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:65329000-65336200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:65329000-65336200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:65329000-65336400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:65329000-65336400	Weak transcription	Fetal Kidney	kidney
34	chr11:65329000-65336400	Weak transcription	HSMMtube	muscle
35	chr11:65329000-65336800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:65329400-65335200	Weak transcription	Brain Germinal Matrix	brain
37	chr11:65329400-65336200	Weak transcription	Psoas Muscle	Psoas
38	chr11:65329400-65336600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:65329600-65335600	Weak transcription	Fetal Lung	lung
40	chr11:65329600-65336200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:65329600-65336400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:65329800-65334200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:65330000-65333800	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:65330800-65335200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:65331000-65334800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:65331400-65335600	Weak transcription	HepG2	liver
47	chr11:65331400-65336200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:65331600-65333800	Weak transcription	Adipose Nuclei	Adipose
49	chr11:65331800-65334400	Weak transcription	Placenta	Placenta
50	chr11:65331800-65336600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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