Variant report

Variant	rs12323677
Chromosome Location	chr14:68952525-68952526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68951909..68954221-chr14:69252070..69254907,3	MCF-7	breast:
2	chr14:68946983..68949928-chr14:68952224..68954178,2	K562	blood:
3	chr14:68943541..68946317-chr14:68952367..68953897,2	MCF-7	breast:
4	chr14:68925693..68928632-chr14:68950359..68952999,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10142381	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10144394	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10149278	0.84[ASN][1000 genomes]
rs11622203	0.95[EUR][1000 genomes]
rs11626015	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17105664	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28376370	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3784127	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60145217	0.81[EUR][1000 genomes];0.87[ASN][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68943800-68957400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:68944000-68959200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:68944200-68953600	Weak transcription	Right Atrium	heart
4	chr14:68944200-68955000	Weak transcription	Esophagus	oesophagus
5	chr14:68944200-68957400	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:68944400-68968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:68944600-68957400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:68944800-68953800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:68945400-68959600	Weak transcription	Primary B cells from cord blood	blood
10	chr14:68947400-68952800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:68947400-68953400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr14:68947800-68952600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:68949600-68955400	Enhancers	Pancreas	Pancrea
14	chr14:68949800-68955600	Enhancers	Hela-S3	cervix
15	chr14:68950000-68954800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:68950200-68952600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:68950200-68954600	Enhancers	HepG2	liver
18	chr14:68950600-68952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:68950600-68953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:68950600-68968200	Weak transcription	Gastric	stomach
21	chr14:68950800-68952600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:68950800-68952800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:68950800-68952800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr14:68950800-68954400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:68950800-68954600	Weak transcription	NH-A	brain
26	chr14:68950800-68954600	Weak transcription	NHLF	lung
27	chr14:68950800-68959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:68951000-68952600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr14:68951000-68952600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:68951000-68952600	Weak transcription	A549	lung
31	chr14:68951000-68953000	Weak transcription	Fetal Lung	lung
32	chr14:68951000-68953600	Weak transcription	HMEC	breast
33	chr14:68951000-68953800	Weak transcription	Lung	lung
34	chr14:68951000-68954000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:68951000-68954200	Weak transcription	Osteobl	bone
36	chr14:68951000-68954400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:68951000-68954400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:68951000-68954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:68951000-68954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:68951000-68954600	Weak transcription	GM12878-XiMat	blood
41	chr14:68951000-68955400	Enhancers	K562	blood
42	chr14:68951000-68957400	Weak transcription	Fetal Stomach	stomach
43	chr14:68951000-68957400	Weak transcription	Spleen	Spleen
44	chr14:68951000-68959400	Weak transcription	Fetal Kidney	kidney
45	chr14:68951000-68969400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:68951200-68953800	Weak transcription	NHEK	skin
47	chr14:68951600-68952600	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:68951600-68953000	Weak transcription	Placenta	Placenta
49	chr14:68951600-68955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:68951800-68953400	Enhancers	Liver	Liver

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