Variant report

Variant	rs8005163
Chromosome Location	chr14:21942751-21942752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21941999..21943965-chr14:21954802..21956942,2	K562	blood:
2	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
3	chr14:21926286..21927863-chr14:21941529..21943943,2	K562	blood:
4	chr14:21938768..21943073-chr14:21943531..21945329,3	K562	blood:
5	chr14:21941797..21947093-chr14:21954513..21961521,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100888	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10132333	0.81[MEX][hapmap]
rs10134108	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs10137743	0.83[GIH][hapmap]
rs10141933	0.85[ASN][1000 genomes]
rs10142478	0.85[ASN][1000 genomes]
rs10143000	0.94[GIH][hapmap];0.88[MEX][hapmap]
rs10143061	0.82[MEX][hapmap]
rs10146717	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs10151764	0.83[GIH][hapmap]
rs1045842	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap]
rs11156996	0.85[ASN][1000 genomes]
rs11624716	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs1263788	0.85[ASN][1000 genomes]
rs1263790	1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.85[ASN][1000 genomes]
rs1263792	0.95[CHD][hapmap];0.94[MEX][hapmap];0.83[ASN][1000 genomes]
rs1263797	0.85[ASN][1000 genomes]
rs1263798	0.85[ASN][1000 genomes]
rs1543494	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs1794219	0.85[ASN][1000 genomes]
rs1952554	0.83[GIH][hapmap]
rs1998332	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs1999139	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap]
rs3762158	0.82[MEX][hapmap]
rs3762159	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs3762160	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762162	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571797	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs6571843	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs6571844	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571845	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571846	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7141654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7147024	0.83[GIH][hapmap]
rs7151259	0.85[ASN][1000 genomes]
rs7152833	0.82[MEX][hapmap]
rs7157563	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7157961	0.85[ASN][1000 genomes]
rs7159433	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7160488	0.82[MEX][hapmap]
rs8004388	0.82[MEX][hapmap]
rs8008670	0.82[MEX][hapmap]
rs8009789	0.82[MEX][hapmap]
rs8013109	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022395	0.82[MEX][hapmap]
rs9322978	0.83[GIH][hapmap];0.81[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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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 target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21924800-21944600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21925000-21943800	Weak transcription	HMEC	breast
3	chr14:21925000-21944000	Weak transcription	Stomach Mucosa	stomach
4	chr14:21925000-21944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:21925000-21944600	Weak transcription	Small Intestine	intestine
6	chr14:21925200-21943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:21927000-21942800	Strong transcription	Liver	Liver
8	chr14:21927200-21943400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:21927400-21943000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:21927800-21942800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:21927800-21943400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:21929400-21943600	Weak transcription	NHEK	skin
13	chr14:21930000-21943600	Weak transcription	Gastric	stomach
14	chr14:21930000-21943800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:21930200-21943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:21930200-21943800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:21930200-21944000	Weak transcription	Brain Angular Gyrus	brain
18	chr14:21930200-21944400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:21930400-21944000	Weak transcription	Pancreas	Pancrea
20	chr14:21930600-21943600	Weak transcription	A549	lung
21	chr14:21930800-21943000	Weak transcription	Hela-S3	cervix
22	chr14:21931800-21944000	Weak transcription	Esophagus	oesophagus
23	chr14:21932000-21944000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:21932000-21944400	Weak transcription	Psoas Muscle	Psoas
25	chr14:21932800-21944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:21933200-21944600	Weak transcription	Spleen	Spleen
27	chr14:21934600-21943800	Weak transcription	Fetal Brain Female	brain
28	chr14:21934600-21944600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:21935400-21943600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:21935600-21942800	Weak transcription	HSMM	muscle
31	chr14:21935600-21943800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:21935600-21944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:21935800-21944400	Weak transcription	HSMMtube	muscle
34	chr14:21936000-21944000	Weak transcription	Fetal Brain Male	brain
35	chr14:21936000-21944000	Weak transcription	Right Ventricle	heart
36	chr14:21936200-21943600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:21936200-21943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:21936200-21943800	Weak transcription	NHLF	lung
39	chr14:21936400-21944000	Weak transcription	Colonic Mucosa	Colon
40	chr14:21936600-21943800	Weak transcription	Fetal Heart	heart
41	chr14:21936800-21943800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:21937000-21942800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:21937000-21943000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:21937000-21943000	Weak transcription	GM12878-XiMat	blood
45	chr14:21937000-21943600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:21937000-21943800	Weak transcription	Brain Anterior Caudate	brain
47	chr14:21937000-21943800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:21937000-21944000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:21937000-21944000	Weak transcription	Ovary	ovary
50	chr14:21937000-21944400	Weak transcription	Brain Cingulate Gyrus	brain

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