Variant report

Variant	rs17128610
Chromosome Location	chr14:56074074-56074075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56073582..56076545-chr14:56082600..56084449,2	MCF-7	breast:
2	chr14:56072488..56077213-chr14:56077351..56081424,5	MCF-7	breast:
3	chr14:56050702..56052550-chr14:56072121..56074340,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10146870	0.86[ASN][1000 genomes]
rs10483644	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10483649	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12432344	0.80[EUR][1000 genomes]
rs12432588	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12432887	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12433592	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12434624	0.90[EUR][1000 genomes]
rs12434660	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12434799	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12435643	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12587700	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12587705	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12588185	0.81[EUR][1000 genomes]
rs12589864	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12589867	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12590388	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12590936	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12882850	0.87[ASN][1000 genomes]
rs12885864	0.83[EUR][1000 genomes]
rs12888809	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12895070	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12897227	0.89[ASN][1000 genomes]
rs17128614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128655	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17128657	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17128677	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17128684	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17128690	0.84[EUR][1000 genomes]
rs1951889	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1951890	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2093800	0.89[ASN][1000 genomes]
rs2252189	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2274076	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2274078	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2274079	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2341889	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28458791	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28703642	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34023572	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34111199	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34118806	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34184813	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34408323	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34548095	0.84[EUR][1000 genomes]
rs34697059	0.86[EUR][1000 genomes]
rs34709110	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34931260	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35047443	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35094494	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35420484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35451981	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35531912	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35535838	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35560341	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35790844	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4457912	0.93[ASN][1000 genomes]
rs55760841	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56229542	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60233569	0.84[EUR][1000 genomes]
rs61381603	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573051	0.83[ASN][1000 genomes]
rs68127620	0.86[ASN][1000 genomes]
rs7154548	0.89[ASN][1000 genomes]
rs7156566	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72719463	0.93[ASN][1000 genomes]
rs8003149	0.83[EUR][1000 genomes]
rs8006443	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8007183	0.89[ASN][1000 genomes]
rs8007832	0.84[ASN][1000 genomes]
rs8008764	0.89[ASN][1000 genomes]
rs8011252	0.88[ASN][1000 genomes]
rs8015588	0.85[EUR][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	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:56056200-56076000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:56061000-56085400	Weak transcription	Fetal Kidney	kidney
5	chr14:56061000-56085400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:56061200-56082400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:56064200-56082800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:56066400-56079000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:56066400-56079800	Weak transcription	K562	blood
10	chr14:56066600-56076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:56066600-56079000	Weak transcription	Fetal Intestine Large	intestine
12	chr14:56066600-56079200	Weak transcription	Placenta	Placenta
13	chr14:56066600-56086200	Weak transcription	Fetal Intestine Small	intestine
14	chr14:56066600-56086200	Weak transcription	Gastric	stomach
15	chr14:56066800-56079200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:56066800-56080000	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:56066800-56086200	Weak transcription	Fetal Stomach	stomach
18	chr14:56067400-56074600	Enhancers	HepG2	liver
19	chr14:56067600-56080600	Weak transcription	GM12878-XiMat	blood
20	chr14:56067800-56075800	Weak transcription	NHLF	lung
21	chr14:56067800-56079000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:56067800-56082200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:56068000-56081400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:56068600-56074200	Weak transcription	HMEC	breast
25	chr14:56068600-56080400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:56068600-56086200	Weak transcription	Spleen	Spleen
27	chr14:56068600-56086600	Weak transcription	Lung	lung
28	chr14:56068800-56075800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:56068800-56075800	Weak transcription	Ovary	ovary
30	chr14:56068800-56080600	Weak transcription	Esophagus	oesophagus
31	chr14:56068800-56081000	Weak transcription	Liver	Liver
32	chr14:56069600-56075400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:56069600-56079000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:56069600-56086800	Weak transcription	Pancreas	Pancrea
35	chr14:56069800-56079200	Weak transcription	Primary T cells from cord blood	blood
36	chr14:56070000-56079000	Weak transcription	Primary B cells from cord blood	blood
37	chr14:56070400-56086200	Weak transcription	Aorta	Aorta
38	chr14:56070600-56075400	Weak transcription	Right Atrium	heart
39	chr14:56070600-56079000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr14:56070600-56079200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:56070800-56074200	Weak transcription	Small Intestine	intestine
42	chr14:56070800-56076000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:56070800-56079800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:56070800-56083000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr14:56070800-56085000	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:56071000-56074200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:56071000-56074200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:56071000-56075800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:56071000-56079200	Weak transcription	Dnd41	blood
50	chr14:56071000-56081200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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