Variant report

Variant	rs221897
Chromosome Location	chr14:71606583-71606584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71605416..71606618-chr14:72219460..72220340,5	MCF-7	breast:
2	chr14:71604707..71606600-chr14:72213499..72215384,2	MCF-7	breast:
3	chr14:71604769..71607668-chr14:71786929..71789620,2	MCF-7	breast:
4	chr14:71605729..71607505-chr14:71785859..71787973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4899382	1.00[ASW][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh 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	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs221897	COX16	cis	parietal	SCAN
rs221897	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs221897	PCNX	cis	parietal	SCAN
rs221897	PAPLN	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71598400-71608600	Weak transcription	NHLF	lung
2	chr14:71604600-71608400	Weak transcription	Spleen	Spleen
3	chr14:71605400-71606600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:71605600-71606600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:71605600-71606600	Enhancers	HSMMtube	muscle
6	chr14:71605600-71607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:71605600-71607400	Enhancers	HepG2	liver
8	chr14:71605600-71613200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:71605600-71613400	Enhancers	Placenta	Placenta
10	chr14:71605800-71608400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:71605800-71608400	Weak transcription	HMEC	breast
12	chr14:71605800-71608800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:71605800-71608800	Weak transcription	HUVEC	blood vessel
14	chr14:71605800-71609400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:71606000-71606600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:71606000-71607200	Weak transcription	Fetal Intestine Small	intestine
17	chr14:71606000-71608400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:71606000-71608800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:71606000-71609000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:71606000-71610000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:71606000-71610000	Weak transcription	Stomach Mucosa	stomach
22	chr14:71606200-71607200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:71606200-71607400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:71606200-71607800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:71606200-71608200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:71606200-71608200	Weak transcription	Osteobl	bone
27	chr14:71606200-71608400	Weak transcription	Primary T cells from cord blood	blood
28	chr14:71606200-71608400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:71606200-71608400	Weak transcription	NHEK	skin
30	chr14:71606200-71608600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:71606200-71608600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:71606200-71608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:71606200-71608800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:71606200-71609000	Weak transcription	K562	blood
35	chr14:71606200-71609200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:71606200-71609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:71606200-71609400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:71606200-71610000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:71606200-71610000	Weak transcription	Brain Anterior Caudate	brain
40	chr14:71606200-71610200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:71606200-71610800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:71606400-71606600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:71606400-71606800	Weak transcription	Fetal Intestine Large	intestine
44	chr14:71606400-71607000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:71606400-71607600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr14:71606400-71607600	Weak transcription	NH-A	brain
47	chr14:71606400-71607800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:71606400-71607800	Weak transcription	NHDF-Ad	bronchial
49	chr14:71606400-71608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:71606400-71608400	Weak transcription	Hela-S3	cervix

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