Variant report

Variant	rs2842322
Chromosome Location	chr14:68915416-68915417
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68909488..68911402-chr14:68914118..68916911,2	MCF-7	breast:
2	chr14:68912559..68915110-chr14:68915133..68917933,3	MCF-7	breast:
3	chr14:68914989..68916739-chr14:69258891..69261800,2	MCF-7	breast:
4	chr14:68914099..68917436-chr14:68918441..68922631,3	K562	blood:
5	chr14:68914261..68916800-chr14:68917548..68919754,2	MCF-7	breast:
6	chr14:68914909..68916568-chr14:68924870..68926386,2	MCF-7	breast:
7	chr14:68915233..68917700-chr14:69258123..69259734,2	K562	blood:
8	chr14:68914558..68916684-chr14:69258747..69261233,2	MCF-7	breast:
9	chr14:68913998..68916839-chr14:68921023..68922631,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10130683	0.89[ASN][1000 genomes]
rs10133813	0.82[JPT][hapmap]
rs10138140	0.80[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10139107	0.82[JPT][hapmap]
rs10146058	0.82[JPT][hapmap]
rs10149340	0.83[ASN][1000 genomes]
rs10467820	0.80[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12435914	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587397	0.82[JPT][hapmap]
rs12886429	0.82[JPT][hapmap]
rs12886864	0.80[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1468279	0.80[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs17105561	0.81[JPT][hapmap]
rs17105571	0.87[CEU][hapmap]
rs2040783	0.87[ASN][1000 genomes]
rs2074562	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074563	0.80[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2074564	0.89[ASN][1000 genomes]
rs2074565	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2093202	0.89[ASN][1000 genomes]
rs2097800	0.80[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2107340	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2717217	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2753404	0.82[JPT][hapmap]
rs3784124	0.89[ASN][1000 genomes]
rs4411448	0.87[ASN][1000 genomes]
rs4902579	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4902583	0.86[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs4902594	0.82[ASN][1000 genomes]
rs4902595	0.82[JPT][hapmap]
rs5004090	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs61986936	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573837	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9323512	0.82[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2842322	FAM71D	cis	parietal	SCAN
rs2842322	ACTN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68906800-68916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:68908600-68917400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:68909000-68916200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:68911800-68916200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:68911800-68916200	Weak transcription	Brain Anterior Caudate	brain
6	chr14:68911800-68916200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:68911800-68916200	Weak transcription	NH-A	brain
8	chr14:68911800-68917200	Weak transcription	Right Atrium	heart
9	chr14:68911800-68917600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:68911800-68921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:68912000-68916000	Weak transcription	Fetal Thymus	thymus
12	chr14:68912000-68916000	Weak transcription	NHDF-Ad	bronchial
13	chr14:68912000-68916200	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:68912000-68916200	Weak transcription	Ovary	ovary
15	chr14:68912000-68916200	Weak transcription	HMEC	breast
16	chr14:68912000-68916800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:68912000-68917600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:68912000-68917600	Weak transcription	Left Ventricle	heart
19	chr14:68912000-68917600	Weak transcription	Psoas Muscle	Psoas
20	chr14:68912200-68916000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:68912200-68916000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:68912200-68916200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:68912200-68916200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:68912200-68916200	Weak transcription	Adipose Nuclei	Adipose
25	chr14:68912200-68916600	Weak transcription	HSMMtube	muscle
26	chr14:68912200-68917200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:68912200-68917600	Weak transcription	Osteobl	bone
28	chr14:68912400-68916000	Weak transcription	HSMM	muscle
29	chr14:68912600-68916400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:68913400-68916200	Weak transcription	Thymus	Thymus
31	chr14:68913600-68916400	Enhancers	Liver	Liver
32	chr14:68914000-68916200	Weak transcription	Placenta	Placenta
33	chr14:68914000-68917800	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:68914000-68918400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:68914200-68918600	Enhancers	Colon Smooth Muscle	Colon
36	chr14:68914400-68916000	Weak transcription	Primary B cells from cord blood	blood
37	chr14:68914400-68916600	Enhancers	Stomach Smooth Muscle	stomach
38	chr14:68914400-68917000	Enhancers	A549	lung
39	chr14:68914400-68918800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:68914400-68919000	Enhancers	Fetal Stomach	stomach
41	chr14:68914600-68916200	Enhancers	Fetal Lung	lung
42	chr14:68914600-68916800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:68914600-68917800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:68914800-68915600	Enhancers	Colonic Mucosa	Colon
45	chr14:68914800-68915600	Enhancers	Stomach Mucosa	stomach
46	chr14:68914800-68915600	Enhancers	NHLF	lung
47	chr14:68914800-68916200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:68914800-68916200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:68914800-68916400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:68914800-68916600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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