Variant report

Variant	rs11622628
Chromosome Location	chr14:21341637-21341638
allele	A/G
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	JUN	chr14:21341565-21341680	HepG2	liver:	n/a	chr14:21341603-21341616
2	RAD21	chr14:21341629-21342245	A549	lung:	n/a	chr14:21341957-21341970 chr14:21341956-21341968 chr14:21341958-21341968 chr14:21341954-21341973
3	CTCF	chr14:21341520-21341670	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr14:21341500-21341650	AG10803	skin:	n/a	n/a
5	CTCF	chr14:21341376-21342369	A549	lung:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
6	CTCF	chr14:21341630-21342268	K562	blood:	n/a	chr14:21341957-21341973 chr14:21341958-21341971 chr14:21341956-21341974 chr14:21342181-21342194
7	CTCF	chr14:21341520-21341670	GM12870	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASE1-1	chr14:21341079-21342995	XLOC_010966

Variant related genes	Relation type
ENSG00000259130	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10142804	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28544189	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67328871	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7144670	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72488260	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73571897	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1044554	chr14:21334087-21456092	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1036728	chr14:21338459-21409969	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1045451	chr14:21340639-21402584	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21341200-21342200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr14:21341200-21342200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr14:21341200-21342200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:21341200-21342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:21341200-21342600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:21341200-21343200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:21341400-21341800	Enhancers	Primary T cells from cord blood	blood
8	chr14:21341400-21342200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:21341400-21342200	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:21341400-21342200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:21341400-21342200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:21341400-21342200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:21341400-21342400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr14:21341400-21342400	Enhancers	Primary hematopoietic stem cells	blood
15	chr14:21341400-21342400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:21341400-21342400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:21341400-21342400	Enhancers	Brain Anterior Caudate	brain
18	chr14:21341400-21342600	Enhancers	Primary B cells from cord blood	blood
19	chr14:21341400-21342600	Enhancers	Spleen	Spleen
20	chr14:21341400-21342600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr14:21341600-21341800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr14:21341600-21341800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:21341600-21341800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr14:21341600-21342000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr14:21341600-21342000	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr14:21341600-21342000	Enhancers	Colon Smooth Muscle	Colon
27	chr14:21341600-21342000	Active TSS	GM12878-XiMat	blood
28	chr14:21341600-21342000	Enhancers	HUVEC	blood vessel
29	chr14:21341600-21342200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:21341600-21342200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr14:21341600-21342200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:21341600-21342200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:21341600-21342200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:21341600-21342200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr14:21341600-21342200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:21341600-21342200	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:21341600-21342200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr14:21341600-21342200	Active TSS	Fetal Kidney	kidney
39	chr14:21341600-21342200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr14:21341600-21342200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr14:21341600-21342200	Enhancers	Thymus	Thymus
42	chr14:21341600-21342200	Flanking Active TSS	Dnd41	blood
43	chr14:21341600-21342200	Active TSS	K562	blood
44	chr14:21341600-21342400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr14:21341600-21342400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:21341600-21342400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr14:21341600-21342400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr14:21341600-21342400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:21341600-21342400	Enhancers	Liver	Liver
50	chr14:21341600-21342400	Active TSS	Brain Hippocampus Middle	brain

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