Variant report

Variant	rs322323
Chromosome Location	chr7:136940560-136940561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136939425..136941087-chr7:136941192..136943070,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs167718	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225137	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322309	0.92[ASN][1000 genomes]
rs322310	0.95[ASN][1000 genomes]
rs322311	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs322313	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322315	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322316	0.94[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322317	0.95[ASN][1000 genomes]
rs322319	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322321	0.84[YRI][hapmap]
rs864428	0.82[CHD][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv889238	chr7:136915059-136989606	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv889239	chr7:136923730-136994013	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136909800-136943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:136924600-136941400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:136926600-136943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:136927000-136942600	Weak transcription	Fetal Brain Male	brain
5	chr7:136927200-136950000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:136927400-136944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:136929600-136943000	Weak transcription	Liver	Liver
8	chr7:136931600-136943000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:136935400-136940600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:136935800-136943000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:136936800-136951600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:136937200-136941200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:136938000-136943000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:136938200-136980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:136939000-136954600	Weak transcription	Fetal Stomach	stomach
16	chr7:136939200-136951800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:136939600-136940600	Enhancers	Brain Angular Gyrus	brain
18	chr7:136939600-136940600	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:136940000-136941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:136940200-136940600	Enhancers	Brain Substantia Nigra	brain

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