Variant report

Variant	rs8012994
Chromosome Location	chr14:67853263-67853264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67850111..67855173-chr14:67855331..67859014,5	K562	blood:
2	chr14:67825470..67829535-chr14:67850559..67854238,4	MCF-7	breast:
3	chr14:67846584..67848955-chr14:67851906..67855058,3	K562	blood:
4	chr14:67826792..67829063-chr14:67851245..67853982,2	K562	blood:
5	chr14:67851450..67854365-chr14:67857966..67860931,3	MCF-7	breast:
6	chr14:67852161..67854104-chr14:67854613..67856832,2	MCF-7	breast:
7	chr14:67844890..67848523-chr14:67850146..67853406,4	K562	blood:

Variant related genes	Relation type
ENSG00000134001	Chromatin interaction
ENSG00000100558	Chromatin interaction
ENSG00000100554	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10083528	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10129218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10135565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10136835	0.84[EUR][1000 genomes]
rs10140203	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10141049	0.84[EUR][1000 genomes]
rs10144002	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10145458	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10148114	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10150612	0.84[EUR][1000 genomes]
rs13379087	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13379190	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs13379449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28477898	0.87[ASN][1000 genomes]
rs28503899	0.84[EUR][1000 genomes]
rs35236021	0.84[EUR][1000 genomes]
rs57402080	0.85[EUR][1000 genomes]
rs59231326	0.85[EUR][1000 genomes]
rs59984712	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573767	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149826	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7154820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7157676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7342569	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs8008820	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8013980	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs8014465	0.84[EUR][1000 genomes]
rs8015912	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs8016480	0.84[EUR][1000 genomes]
rs8020334	1.00[CEU][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8021740	0.90[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs8022938	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	30 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	chr14:67828400-67854000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:67828600-67854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:67828800-67854000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:67829000-67855200	Strong transcription	Fetal Thymus	thymus
5	chr14:67829200-67853600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:67829400-67853600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr14:67829400-67854000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:67829400-67854200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:67829400-67854200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:67829600-67854800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:67829800-67854000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:67829800-67854400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:67830000-67854000	Strong transcription	HSMM	muscle
14	chr14:67830400-67854000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:67830400-67855000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:67830400-67855000	Strong transcription	Liver	Liver
17	chr14:67831000-67854000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:67831000-67855200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:67831200-67854600	Strong transcription	Primary T cells from cord blood	blood
20	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr14:67831400-67854200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:67831400-67854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:67831400-67856200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:67831800-67854600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:67834000-67854200	Strong transcription	Dnd41	blood
26	chr14:67835000-67854000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:67835000-67857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:67835200-67855400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:67835200-67863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:67836200-67853400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:67837400-67855200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:67837600-67860800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:67838000-67854200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr14:67838400-67853600	Strong transcription	A549	lung
35	chr14:67838400-67853800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:67839600-67862400	Strong transcription	Fetal Intestine Large	intestine
37	chr14:67840200-67854000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr14:67840200-67854200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr14:67840600-67854200	Strong transcription	HUVEC	blood vessel
40	chr14:67840600-67854600	Strong transcription	GM12878-XiMat	blood
41	chr14:67840800-67857200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:67841600-67855000	Strong transcription	Brain Hippocampus Middle	brain
43	chr14:67844200-67859200	Weak transcription	Esophagus	oesophagus
44	chr14:67844600-67855200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:67844800-67856000	Weak transcription	Fetal Brain Male	brain
46	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
47	chr14:67845400-67855800	Weak transcription	Aorta	Aorta
48	chr14:67845600-67859400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:67846000-67853600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach

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