Variant report

Variant	rs11172132
Chromosome Location	chr12:39835427-39835428
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:39707343..39709850-chr12:39833796..39835957,2	K562	blood:
2	chr12:39835315..39837704-chr12:39933049..39935834,3	K562	blood:
3	chr12:39807290..39809220-chr12:39833749..39836763,3	K562	blood:
4	chr12:39757176..39762110-chr12:39835391..39838507,4	MCF-7	breast:
5	chr12:39834094..39836682-chr12:39930769..39933635,3	K562	blood:
6	chr12:39708256..39710912-chr12:39833762..39835679,2	MCF-7	breast:
7	chr12:39743944..39745971-chr12:39833401..39836053,2	K562	blood:
8	chr12:39759047..39762172-chr12:39834495..39838400,6	MCF-7	breast:
9	chr12:39723120..39728244-chr12:39834929..39837982,4	MCF-7	breast:
10	chr12:39835235..39837376-chr12:40497652..40499874,2	K562	blood:
11	chr12:39801655..39803705-chr12:39833812..39835448,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151229	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000270273	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10243	1.00[LWK][hapmap]
rs11171717	1.00[LWK][hapmap]
rs12227757	1.00[LWK][hapmap]
rs12824320	1.00[LWK][hapmap]
rs9668320	1.00[LWK][hapmap]

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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3436594	chr12:39835210-39838058	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39821400-39835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:39825200-39835600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:39829600-39835800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:39832200-39835600	Enhancers	Liver	Liver
5	chr12:39833600-39836400	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr12:39833800-39835600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:39833800-39836200	Active TSS	Brain Germinal Matrix	brain
8	chr12:39833800-39837800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:39834000-39835600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:39834000-39837600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:39834000-39838000	Active TSS	Right Atrium	heart
12	chr12:39834200-39838000	Active TSS	Brain Angular Gyrus	brain
13	chr12:39834400-39837400	Active TSS	Fetal Brain Female	brain
14	chr12:39834400-39837800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:39834400-39837800	Active TSS	Right Ventricle	heart
16	chr12:39834600-39835600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:39834600-39835600	Enhancers	Fetal Intestine Large	intestine
18	chr12:39834600-39835600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:39834800-39835600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:39834800-39835600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:39834800-39835600	Weak transcription	Psoas Muscle	Psoas
22	chr12:39834800-39835600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:39834800-39835800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:39834800-39835800	Weak transcription	Pancreas	Pancrea
25	chr12:39834800-39836000	Weak transcription	Lung	lung
26	chr12:39834800-39837400	Active TSS	GM12878-XiMat	blood
27	chr12:39834800-39837600	Active TSS	Left Ventricle	heart
28	chr12:39835000-39835600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:39835000-39835600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:39835000-39835600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:39835000-39835600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:39835000-39835600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:39835000-39835600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:39835000-39835600	Enhancers	Stomach Mucosa	stomach
35	chr12:39835000-39835800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:39835000-39837600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:39835000-39837600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr12:39835200-39835600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:39835200-39835600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr12:39835200-39835600	Weak transcription	Adipose Nuclei	Adipose
41	chr12:39835200-39835600	Active TSS	Stomach Smooth Muscle	stomach
42	chr12:39835200-39835600	Enhancers	NH-A	brain
43	chr12:39835200-39835800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:39835200-39835800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:39835200-39835800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:39835200-39835800	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr12:39835200-39837400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:39835200-39837600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:39835200-39837800	Active TSS	Ovary	ovary
50	chr12:39835400-39835600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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