Variant report

Variant	rs9322978
Chromosome Location	chr14:21848901-21848902
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21848139..21850307-chr14:21923935..21925629,2	MCF-7	breast:
2	chr14:21848861..21852877-chr14:21854432..21859173,7	MCF-7	breast:
3	chr14:21720789..21724175-chr14:21848561..21851525,3	K562	blood:
4	chr14:21776403..21778650-chr14:21847769..21849405,2	K562	blood:

Variant related genes	Relation type
ENSG00000100888	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10132333	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs10134108	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs10137743	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap]
rs10138699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10143000	0.88[MEX][hapmap]
rs10143061	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs10146717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10151764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap]
rs10438064	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1045842	0.88[MEX][hapmap]
rs11624716	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1263790	0.81[MEX][hapmap]
rs1263792	0.81[MEX][hapmap]
rs12885503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1543494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs1952554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs1998332	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1999139	0.88[MEX][hapmap]
rs2181125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2295865	1.00[CHB][hapmap]
rs3762156	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3762158	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs3762159	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3762162	0.83[GIH][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs4144189	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs6571770	1.00[CHB][hapmap]
rs6571797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6571826	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6571845	0.83[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs7147024	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs7148741	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs7152833	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs7155123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7160488	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs8004294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs8004388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs8005163	0.83[GIH][hapmap];0.81[MEX][hapmap]
rs8008670	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs8009789	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs8022395	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs927412	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
10	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
11	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
16	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21818000-21849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21824400-21851000	Weak transcription	Stomach Mucosa	stomach
3	chr14:21836600-21851200	Weak transcription	Pancreas	Pancrea
4	chr14:21836600-21851400	Weak transcription	Gastric	stomach
5	chr14:21836600-21851400	Weak transcription	Spleen	Spleen
6	chr14:21836800-21851200	Weak transcription	Aorta	Aorta
7	chr14:21837200-21851200	Weak transcription	Small Intestine	intestine
8	chr14:21838000-21851200	Weak transcription	Lung	lung
9	chr14:21838200-21850200	Weak transcription	Fetal Heart	heart
10	chr14:21838400-21849800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:21838400-21850200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:21838600-21849000	Weak transcription	Fetal Brain Male	brain
13	chr14:21838600-21850000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:21839200-21851000	Weak transcription	Right Ventricle	heart
15	chr14:21839600-21851000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:21839600-21851000	Weak transcription	Thymus	Thymus
17	chr14:21839600-21851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:21839600-21851200	Weak transcription	Esophagus	oesophagus
19	chr14:21839800-21849800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:21840200-21851000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:21840200-21851000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:21840400-21850200	Weak transcription	Brain Germinal Matrix	brain
23	chr14:21840400-21850600	Weak transcription	Fetal Kidney	kidney
24	chr14:21840600-21851200	Weak transcription	Colonic Mucosa	Colon
25	chr14:21840600-21851200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:21840800-21849800	Weak transcription	Fetal Lung	lung
27	chr14:21840800-21850200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:21840800-21850200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:21840800-21850200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:21840800-21851400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:21841000-21850000	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:21841000-21850200	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:21841000-21850400	Weak transcription	HSMMtube	muscle
34	chr14:21841000-21850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:21841000-21850600	Weak transcription	Brain Anterior Caudate	brain
36	chr14:21841200-21849800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:21841200-21849800	Weak transcription	NH-A	brain
38	chr14:21841200-21850000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:21841200-21850200	Weak transcription	Liver	Liver
40	chr14:21841200-21850200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:21841200-21850400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:21841200-21850600	Weak transcription	Fetal Brain Female	brain
43	chr14:21841200-21851000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:21841400-21849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:21841400-21849800	Weak transcription	NHEK	skin
46	chr14:21841400-21850600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:21841400-21851000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:21841400-21851000	Weak transcription	Psoas Muscle	Psoas
49	chr14:21841400-21851000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr14:21841600-21850000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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