Variant report

Variant	rs12698878
Chromosome Location	chr7:69703688-69703689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69701411..69704010-chr7:69707383..69709265,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12669460	0.92[EUR][1000 genomes]
rs12674397	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698837	0.85[EUR][1000 genomes]
rs12698845	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12698852	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12698854	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698860	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698863	0.84[ASN][1000 genomes]
rs12698868	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698874	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12698885	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12698891	0.89[ASN][1000 genomes]
rs12698894	0.84[ASN][1000 genomes]
rs13221694	0.82[ASN][1000 genomes]
rs13227197	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13228686	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13230441	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13246213	0.81[EUR][1000 genomes]
rs17141190	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35308787	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460540	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6955333	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6974716	0.84[ASN][1000 genomes]
rs71535673	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71535674	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7782663	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7788868	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1030911	chr7:69675761-69721623	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv607431	chr7:69699074-69828729	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69696600-69707000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:69697600-69706400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:69702400-69704000	Flanking Active TSS	GM12878-XiMat	blood
4	chr7:69702400-69708800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:69702400-69708800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:69702600-69703800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:69702600-69703800	Enhancers	Primary B cells from cord blood	blood
8	chr7:69702600-69704000	Enhancers	Fetal Brain Male	brain
9	chr7:69702600-69704000	Enhancers	Fetal Brain Female	brain
10	chr7:69702600-69704200	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:69702800-69704000	Enhancers	Brain Germinal Matrix	brain
12	chr7:69703000-69703800	Enhancers	Fetal Kidney	kidney
13	chr7:69703200-69704000	Enhancers	Fetal Lung	lung
14	chr7:69703200-69706800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:69703400-69705000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:69703600-69704600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:69703600-69706200	Weak transcription	Fetal Stomach	stomach
18	chr7:69703600-69706800	Weak transcription	Fetal Muscle Leg	muscle

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