Variant report

Variant	rs12698835
Chromosome Location	chr7:69479123-69479124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs12112758	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12113555	0.84[AFR][1000 genomes]
rs12667561	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12669794	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12673575	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12698820	0.85[AMR][1000 genomes]
rs12698826	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698841	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698843	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12698846	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12698847	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12698850	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12698851	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698853	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12698856	0.84[AFR][1000 genomes]
rs12698857	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs12698861	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12698862	0.84[AFR][1000 genomes]
rs12698864	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12698865	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12698867	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12698873	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12698882	0.83[ASN][1000 genomes]
rs12698883	0.83[ASN][1000 genomes]
rs13229395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13229686	0.81[ASN][1000 genomes]
rs13231497	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13238017	0.83[ASN][1000 genomes]
rs13242485	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13340492	0.81[ASN][1000 genomes]
rs1476104	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1476105	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17365011	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17365333	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17365375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17462837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17762460	0.83[ASN][1000 genomes]
rs2030705	0.82[ASN][1000 genomes]
rs2030706	0.83[ASN][1000 genomes]
rs2159678	0.80[EUR][1000 genomes]
rs2866275	0.83[ASN][1000 genomes]
rs34519726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35317642	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4318956	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4623296	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs58849135	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6460539	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs67847242	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6943610	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6945241	0.81[ASN][1000 genomes]
rs6946066	0.84[AFR][1000 genomes]
rs6951909	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6953075	0.81[ASN][1000 genomes]
rs6970670	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971237	0.83[ASN][1000 genomes]
rs6975814	0.81[ASN][1000 genomes]
rs735060	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7779308	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7780640	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7782771	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7783039	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7783592	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7783748	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7790084	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7791954	0.83[AFR][1000 genomes]
rs7796592	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7799192	0.90[ASN][1000 genomes]
rs7800317	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800759	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7803814	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7806363	0.83[ASN][1000 genomes]
rs7807263	0.85[AFR][1000 genomes]
rs7809303	0.80[EUR][1000 genomes]
rs877188	0.81[AFR][1000 genomes]
rs917717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9638582	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9647931	0.80[ASN][1000 genomes]
rs9691023	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1028705	chr7:69453983-69524628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69471800-69479200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:69472200-69479600	Weak transcription	Fetal Stomach	stomach
3	chr7:69472200-69479600	Weak transcription	GM12878-XiMat	blood
4	chr7:69472600-69479600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:69477000-69479400	Weak transcription	Fetal Lung	lung
6	chr7:69477200-69481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:69477200-69482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:69477200-69490400	Weak transcription	Left Ventricle	heart
9	chr7:69477200-69507600	Weak transcription	Right Atrium	heart
10	chr7:69477400-69479400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:69477600-69480000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:69477600-69480200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:69477800-69480400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:69477800-69482200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:69478000-69479200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:69478000-69481000	Weak transcription	Fetal Heart	heart
17	chr7:69478200-69479200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:69478400-69479600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:69478400-69480800	Enhancers	Dnd41	blood
20	chr7:69478600-69479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:69478600-69479600	Weak transcription	Thymus	Thymus
22	chr7:69478600-69481000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:69478600-69491000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:69478800-69479200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:69478800-69479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:69478800-69479200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:69478800-69479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:69478800-69479600	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:69479000-69479400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:69479000-69479400	Weak transcription	Fetal Thymus	thymus
31	chr7:69479000-69481200	Enhancers	Fetal Brain Male	brain

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