Variant report

Variant	rs12435643
Chromosome Location	chr14:56133054-56133055
allele	C/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	STAT3	chr14:56132929-56133129	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
KTN1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10136408	0.86[CEU][hapmap]
rs10444721	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10483644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483649	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10483651	0.95[ASN][1000 genomes]
rs12432344	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12432588	0.85[EUR][1000 genomes]
rs12432887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433592	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12434609	0.91[ASN][1000 genomes]
rs12434624	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434660	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12434799	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12587700	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587705	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587735	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12588172	0.87[ASN][1000 genomes]
rs12588185	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12589864	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589867	0.87[EUR][1000 genomes]
rs12590388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12590936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12882850	0.83[JPT][hapmap]
rs12885864	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12888809	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891129	0.94[ASN][1000 genomes]
rs12891489	0.86[CEU][hapmap]
rs12893162	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12895070	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12895366	0.94[ASN][1000 genomes]
rs12897227	0.83[JPT][hapmap]
rs17128610	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17128614	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17128655	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17128657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128677	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17128690	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17253737	0.94[ASN][1000 genomes]
rs17684916	0.92[ASN][1000 genomes]
rs17684959	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs17685650	0.95[ASN][1000 genomes]
rs1951887	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1951889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951890	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2252189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274079	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296182	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2296183	0.95[ASN][1000 genomes]
rs2341889	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28458791	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581272	0.85[ASN][1000 genomes]
rs28703642	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34023572	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34111199	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34118806	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34133022	0.94[ASN][1000 genomes]
rs34184813	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34408323	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34548095	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34697059	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34706911	0.91[ASN][1000 genomes]
rs34709110	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34853759	0.94[ASN][1000 genomes]
rs34931260	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34982220	0.93[ASN][1000 genomes]
rs35047443	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35094494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35420484	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35451981	0.86[EUR][1000 genomes]
rs35531912	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35535838	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35560341	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35790844	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3765515	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4457912	0.81[JPT][hapmap]
rs55760841	0.86[EUR][1000 genomes]
rs55927221	0.93[ASN][1000 genomes]
rs56229542	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60233569	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61381603	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573051	0.80[ASN][1000 genomes]
rs6573053	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6573054	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7150285	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs7156566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158176	0.94[ASN][1000 genomes]
rs8003149	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006443	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015588	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56088400-56153200	Weak transcription	Gastric	stomach
4	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
9	chr14:56102400-56145200	Weak transcription	Lung	lung
10	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
11	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
13	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:56109800-56139600	Weak transcription	Colonic Mucosa	Colon
17	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:56118400-56138400	Weak transcription	HSMMtube	muscle
21	chr14:56119200-56139200	Weak transcription	K562	blood
22	chr14:56120000-56139200	Weak transcription	Brain Angular Gyrus	brain
23	chr14:56122000-56138200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:56122000-56145400	Weak transcription	Pancreas	Pancrea
25	chr14:56122200-56138400	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:56122200-56138600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:56122400-56145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:56122400-56145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:56122400-56152600	Weak transcription	Esophagus	oesophagus
30	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
31	chr14:56124000-56137400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:56124000-56138400	Weak transcription	Brain Substantia Nigra	brain
33	chr14:56124000-56142200	Weak transcription	Fetal Kidney	kidney
34	chr14:56124800-56138200	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:56125000-56144600	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:56125200-56137800	Weak transcription	NHLF	lung
37	chr14:56126200-56137400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:56127000-56138200	Weak transcription	HepG2	liver
39	chr14:56128200-56145200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:56128200-56149800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:56129200-56143800	Weak transcription	Fetal Intestine Small	intestine
42	chr14:56129200-56144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:56129200-56145200	Weak transcription	Fetal Stomach	stomach
44	chr14:56129800-56134400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:56129800-56135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:56129800-56136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr14:56129800-56137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:56129800-56137600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:56129800-56137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:56129800-56137800	Weak transcription	Brain Anterior Caudate	brain

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