Variant report

Variant	rs8007868
Chromosome Location	chr14:67822562-67822563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:67822558-67822706	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67817758..67821095-chr14:67821234..67824521,3	K562	blood:
2	chr14:67778865..67780700-chr14:67821446..67823357,2	MCF-7	breast:

Variant related genes	Relation type
ATP6V1D	TF binding region
EIF2S1	TF binding region
ENSG00000100554	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1290900	0.86[EUR][1000 genomes]
rs2094163	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141756	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs764039	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
3	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:67800000-67825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:67805200-67823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:67808400-67823400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:67811000-67823200	Weak transcription	K562	blood
9	chr14:67811000-67823400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:67811200-67823200	Weak transcription	Fetal Heart	heart
11	chr14:67811400-67824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:67811400-67824400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:67811600-67824400	Weak transcription	Small Intestine	intestine
14	chr14:67811800-67825200	Weak transcription	Gastric	stomach
15	chr14:67812000-67823200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:67814600-67824400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:67815000-67825600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:67815200-67824400	Weak transcription	Spleen	Spleen
19	chr14:67815200-67825200	Weak transcription	Lung	lung
20	chr14:67815800-67822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:67816200-67823400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:67816200-67824400	Weak transcription	Colonic Mucosa	Colon
23	chr14:67816200-67824400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:67816400-67824800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:67816400-67824800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:67816400-67825000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:67816400-67825200	Weak transcription	Thymus	Thymus
28	chr14:67816600-67824400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:67816800-67823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:67816800-67823400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:67816800-67823400	Weak transcription	Psoas Muscle	Psoas
32	chr14:67816800-67823400	Weak transcription	Right Ventricle	heart
33	chr14:67816800-67824200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:67816800-67824400	Weak transcription	Fetal Brain Male	brain
35	chr14:67816800-67825200	Weak transcription	Ovary	ovary
36	chr14:67816800-67825600	Weak transcription	Aorta	Aorta
37	chr14:67817000-67824400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:67817200-67824200	Weak transcription	A549	lung
39	chr14:67817400-67823800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:67817400-67825000	Weak transcription	Brain Angular Gyrus	brain
41	chr14:67817400-67825400	Weak transcription	Fetal Kidney	kidney
42	chr14:67817600-67823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:67817600-67823400	Weak transcription	NHLF	lung
44	chr14:67817600-67823800	Weak transcription	Dnd41	blood
45	chr14:67817600-67824000	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:67817600-67824400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:67817600-67824400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:67817600-67825200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:67817800-67823400	Weak transcription	HUVEC	blood vessel
50	chr14:67817800-67823800	Weak transcription	Stomach Smooth Muscle	stomach

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