Variant report

Variant	rs322332
Chromosome Location	chr7:137005911-137005912
allele	C/T
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	CTCF	chr7:137005800-137005950	K562	blood:	n/a	n/a
2	POLR2A	chr7:137005713-137006001	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000231114	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1616000	0.90[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap]
rs322331	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322335	0.90[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322336	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs322337	0.91[CEU][hapmap];1.00[EUR][1000 genomes]
rs322338	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs322340	0.90[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322345	0.90[CEU][hapmap];1.00[EUR][1000 genomes]
rs322346	0.90[CEU][hapmap];0.88[CHB][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv889241	chr7:136976713-137038092	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv889242	chr7:137005808-137081223	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136982800-137008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:136991600-137013000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:136993200-137007000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:136998200-137010200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:136998200-137013000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:137001800-137016200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:137002000-137010400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:137002000-137013000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:137002000-137020000	Weak transcription	Fetal Stomach	stomach
10	chr7:137002200-137010000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:137002800-137010000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:137003800-137006800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:137003800-137009800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:137004600-137009600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:137004800-137016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:137005400-137006000	Enhancers	Brain Anterior Caudate	brain
17	chr7:137005600-137006000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:137005600-137006000	Enhancers	Brain Angular Gyrus	brain
19	chr7:137005600-137006000	Enhancers	Brain Substantia Nigra	brain
20	chr7:137005600-137007600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:137005800-137006200	Enhancers	Brain Hippocampus Middle	brain
22	chr7:137005800-137006200	Enhancers	Brain Inferior Temporal Lobe	brain

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