Variant report

Variant	rs8022938
Chromosome Location	chr14:67855327-67855328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67854460..67856637-chr14:67859144..67860665,2	K562	blood:
2	chr14:67854976..67857468-chr14:67858474..67861357,2	MCF-7	breast:
3	chr14:67835138..67837687-chr14:67853889..67855773,2	K562	blood:
4	chr14:67854344..67856660-chr14:67881111..67883754,2	K562	blood:
5	chr14:67852161..67854104-chr14:67854613..67856832,2	MCF-7	breast:
6	chr14:67846836..67848449-chr14:67854431..67855957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100558	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];1.00[ASN][1000 genomes]
rs10129218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141049	0.84[EUR][1000 genomes]
rs10144002	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145458	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10148114	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150612	0.84[EUR][1000 genomes]
rs13379087	1.00[EUR][1000 genomes];1.00[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];1.00[ASN][1000 genomes]
rs28477898	1.00[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];1.00[ASN][1000 genomes]
rs6573767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149826	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342569	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs8008820	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012994	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]
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];1.00[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];1.00[ASN][1000 genomes]
rs8021740	0.90[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]

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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr14:67831400-67856200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:67835000-67857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:67835200-67855400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:67835200-67863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:67837600-67860800	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:67839600-67862400	Strong transcription	Fetal Intestine Large	intestine
8	chr14:67840800-67857200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:67844200-67859200	Weak transcription	Esophagus	oesophagus
10	chr14:67844800-67856000	Weak transcription	Fetal Brain Male	brain
11	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
12	chr14:67845400-67855800	Weak transcription	Aorta	Aorta
13	chr14:67845600-67859400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
15	chr14:67849200-67860600	Strong transcription	Fetal Stomach	stomach
16	chr14:67849400-67857800	Weak transcription	Brain Angular Gyrus	brain
17	chr14:67849600-67857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:67849600-67864400	Weak transcription	Gastric	stomach
19	chr14:67850000-67857200	Weak transcription	Right Ventricle	heart
20	chr14:67850000-67862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr14:67850200-67855400	Weak transcription	Fetal Kidney	kidney
22	chr14:67850200-67856000	Weak transcription	Ovary	ovary
23	chr14:67850200-67857200	Weak transcription	Spleen	Spleen
24	chr14:67850200-67858400	Weak transcription	Colonic Mucosa	Colon
25	chr14:67850200-67878400	Weak transcription	Lung	lung
26	chr14:67850400-67856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:67850600-67859600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:67850600-67862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:67850800-67855800	Weak transcription	HepG2	liver
30	chr14:67851000-67863200	Weak transcription	Fetal Lung	lung
31	chr14:67851800-67855400	Weak transcription	Brain Substantia Nigra	brain
32	chr14:67852000-67857000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:67852000-67860200	Weak transcription	NHLF	lung
34	chr14:67852200-67855800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:67852200-67856600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:67852200-67857800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:67852200-67858400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:67852200-67862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:67852200-67863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:67852400-67855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:67852400-67857400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:67852400-67862400	Weak transcription	HSMMtube	muscle
43	chr14:67852600-67857200	Weak transcription	Psoas Muscle	Psoas
44	chr14:67852600-67858200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:67852600-67862000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:67852800-67855600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:67852800-67856000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:67852800-67856400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr14:67852800-67857600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:67852800-67859400	Weak transcription	Pancreas	Pancrea

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