Variant report

Variant	rs9322956
Chromosome Location	chr14:21676425-21676426
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21667205-21678686	K562	blood:	n/a	n/a
2	POLR2A	chr14:21667196-21677075	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:21667116-21678581	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21670116-21677113	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:21675972-21677058	K562	blood:	n/a	n/a
6	POLR2A	chr14:21667121-21678175	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:21670026-21677035	K562	blood:	n/a	n/a
8	POLR2A	chr14:21669019-21677239	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:21676331-21676670	K562	blood:	n/a	n/a
10	ZNF274	chr14:21675971-21676513	K562	blood:	n/a	n/a
11	POLR2A	chr14:21668952-21677245	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:21676404-21676426	MCF-7	breast:	n/a	n/a
13	POLR2A	chr14:21669013-21677198	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:21667148-21677070	A549	lung:	n/a	n/a
15	POLR2A	chr14:21675900-21676923	K562	blood:	n/a	n/a
16	POLR2A	chr14:21671404-21677299	K562	blood:	n/a	n/a
17	POLR2A	chr14:21668653-21678640	GM12891	blood:	n/a	n/a
18	POLR2A	chr14:21671520-21677070	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:21670063-21678135	K562	blood:	n/a	n/a
20	POLR2A	chr14:21670049-21677003	HL-60	blood:	n/a	n/a
21	POLR2A	chr14:21675966-21677269	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr14:21669144-21677188	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21676404..21679681-chr14:21680227..21682594,3	K562	blood:

No data

Variant related genes	Relation type
LINC00641	TF binding region
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10133539	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142891	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148570	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149383	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846887	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848128	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849527	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849571	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850109	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102606	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17102889	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103007	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103550	1.00[CEU][hapmap]
rs1957415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510166	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv974434	chr14:21634973-21678548	Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv974312	chr14:21652582-21678548	Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv1037590	chr14:21659344-21708852	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
20	nsv541981	chr14:21676221-21727801	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
21	nsv541982	chr14:21676221-21735893	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
22	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21660600-21686200	Weak transcription	Right Atrium	heart
2	chr14:21660800-21678200	Weak transcription	Right Ventricle	heart
3	chr14:21660800-21679400	Weak transcription	Gastric	stomach
4	chr14:21661000-21679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:21664800-21677600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:21665400-21677000	Weak transcription	Ovary	ovary
7	chr14:21669000-21679400	Weak transcription	Aorta	Aorta
8	chr14:21669000-21685800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:21669400-21679800	Weak transcription	Small Intestine	intestine
10	chr14:21669400-21681600	Strong transcription	Left Ventricle	heart
11	chr14:21669400-21685600	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr14:21670000-21679600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:21670000-21681600	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:21670200-21683600	Strong transcription	Fetal Thymus	thymus
15	chr14:21670200-21684200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:21670200-21684600	Strong transcription	NHLF	lung
17	chr14:21670200-21685000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:21670200-21685400	Strong transcription	HSMM	muscle
19	chr14:21670200-21685400	Strong transcription	NH-A	brain
20	chr14:21670200-21685400	Strong transcription	Osteobl	bone
21	chr14:21670400-21676800	Weak transcription	Esophagus	oesophagus
22	chr14:21670400-21679400	Weak transcription	Fetal Intestine Small	intestine
23	chr14:21670400-21697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:21670600-21676800	Weak transcription	Pancreas	Pancrea
25	chr14:21670600-21683400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:21670800-21682400	Strong transcription	A549	lung
27	chr14:21670800-21684800	Strong transcription	HSMMtube	muscle
28	chr14:21670800-21685000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:21670800-21687400	Strong transcription	Fetal Brain Female	brain
30	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr14:21671000-21676800	Weak transcription	Stomach Mucosa	stomach
32	chr14:21671200-21676800	Strong transcription	GM12878-XiMat	blood
33	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:21671400-21681000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:21671400-21684600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:21671400-21684800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr14:21671600-21681600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:21671600-21682800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:21671600-21686000	Strong transcription	HUVEC	blood vessel
40	chr14:21671600-21688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:21671800-21679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:21671800-21683600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:21672200-21680000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:21672200-21684200	Strong transcription	HMEC	breast
45	chr14:21672200-21696600	Strong transcription	Primary B cells from cord blood	blood
46	chr14:21672400-21680000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:21672400-21680800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:21672400-21684800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:21672400-21696000	Strong transcription	Adipose Nuclei	Adipose
50	chr14:21672400-21709000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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