Variant report

Variant	rs34668262
Chromosome Location	chr12:12483836-12483837
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12479198..12480920-chr12:12483064..12485250,2	K562	blood:
2	chr12:12483185..12484907-chr12:12939663..12941385,2	K562	blood:
3	chr12:12479190..12481721-chr12:12482518..12485352,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73277481	0.92[AFR][1000 genomes]
rs73277493	0.92[AFR][1000 genomes]
rs73279312	0.92[AFR][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:76 , 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	chr12:12473200-12485200	Weak transcription	HSMMtube	muscle
4	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:12473400-12484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:12473600-12485200	Weak transcription	NH-A	brain
7	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
8	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:12473800-12484600	Weak transcription	Lung	lung
10	chr12:12473800-12486200	Weak transcription	Colonic Mucosa	Colon
11	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
13	chr12:12473800-12502400	Weak transcription	NHLF	lung
14	chr12:12474000-12484400	Weak transcription	Pancreas	Pancrea
15	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:12474200-12486600	Weak transcription	Brain Substantia Nigra	brain
17	chr12:12476000-12484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:12476000-12486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:12477000-12487600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:12477200-12486200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:12477200-12491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:12480400-12484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:12480400-12487400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:12480400-12490800	Weak transcription	Right Atrium	heart
25	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
26	chr12:12480800-12486400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:12480800-12486600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:12481000-12484200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:12481000-12484200	Weak transcription	Fetal Kidney	kidney
30	chr12:12481000-12484200	Weak transcription	Fetal Lung	lung
31	chr12:12481000-12484400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:12481000-12484800	Weak transcription	Brain Angular Gyrus	brain
33	chr12:12481000-12486200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:12481000-12486400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:12481000-12486400	Weak transcription	Primary T cells from cord blood	blood
36	chr12:12481000-12486400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:12481000-12486400	Weak transcription	Dnd41	blood
38	chr12:12481000-12486400	Weak transcription	GM12878-XiMat	blood
39	chr12:12481000-12486600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:12481000-12487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:12481200-12485000	Weak transcription	HUVEC	blood vessel
42	chr12:12481200-12486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:12481200-12486400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:12481200-12486600	Weak transcription	HepG2	liver
45	chr12:12481200-12487400	Weak transcription	A549	lung
46	chr12:12481200-12491000	Weak transcription	Hela-S3	cervix
47	chr12:12481200-12495400	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
49	chr12:12481400-12485000	Weak transcription	HMEC	breast
50	chr12:12481600-12484200	Weak transcription	Esophagus	oesophagus

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