Variant report

Variant	rs4328285
Chromosome Location	chr12:12482803-12482804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12234582..12235322-chr12:12482615..12483543,2	K562	blood:
2	chr12:12479190..12481721-chr12:12482518..12485352,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054817	0.92[ASN][1000 genomes]
rs11054824	0.80[ASN][1000 genomes]
rs12578158	0.92[ASN][1000 genomes]
rs12580693	0.89[ASN][1000 genomes]
rs4763818	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7295350	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr12:12466000-12484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:12467000-12484400	Weak transcription	Small Intestine	intestine
3	chr12:12473000-12483000	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:12473200-12485200	Weak transcription	HSMMtube	muscle
5	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:12473400-12483000	Weak transcription	Aorta	Aorta
7	chr12:12473400-12484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:12473600-12485200	Weak transcription	NH-A	brain
9	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
10	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:12473800-12483000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:12473800-12483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:12473800-12484600	Weak transcription	Lung	lung
14	chr12:12473800-12486200	Weak transcription	Colonic Mucosa	Colon
15	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
17	chr12:12473800-12502400	Weak transcription	NHLF	lung
18	chr12:12474000-12484400	Weak transcription	Pancreas	Pancrea
19	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:12474200-12483000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:12474200-12486600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:12474400-12483000	Weak transcription	Fetal Stomach	stomach
23	chr12:12476000-12484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:12476000-12486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:12477000-12487600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:12477200-12486200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:12477200-12491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:12480400-12483000	Weak transcription	Spleen	Spleen
29	chr12:12480400-12484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:12480400-12487400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:12480400-12490800	Weak transcription	Right Atrium	heart
32	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
33	chr12:12480600-12483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:12480600-12483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:12480800-12486400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:12480800-12486600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:12481000-12483000	Weak transcription	Adipose Nuclei	Adipose
38	chr12:12481000-12484200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:12481000-12484200	Weak transcription	Fetal Kidney	kidney
40	chr12:12481000-12484200	Weak transcription	Fetal Lung	lung
41	chr12:12481000-12484400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:12481000-12484800	Weak transcription	Brain Angular Gyrus	brain
43	chr12:12481000-12486200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:12481000-12486400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:12481000-12486400	Weak transcription	Primary T cells from cord blood	blood
46	chr12:12481000-12486400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:12481000-12486400	Weak transcription	Dnd41	blood
48	chr12:12481000-12486400	Weak transcription	GM12878-XiMat	blood
49	chr12:12481000-12486600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:12481000-12487400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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