Variant report

Variant	rs56280054
Chromosome Location	chr7:136935639-136935640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136930142..136933282-chr7:136935160..136937647,3	K562	blood:

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

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

rs_ID	r²[population]
rs10435428	0.94[EUR][1000 genomes]
rs11763248	0.99[EUR][1000 genomes]
rs11772240	0.99[EUR][1000 genomes]
rs11772540	0.89[EUR][1000 genomes]
rs17169016	0.94[EUR][1000 genomes]
rs4142090	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57537216	0.91[EUR][1000 genomes]
rs72611536	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72611537	0.92[EUR][1000 genomes]
rs72611538	0.91[EUR][1000 genomes]
rs891586	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs891587	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136909600-136935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136909800-136943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:136911600-136936400	Weak transcription	Fetal Heart	heart
4	chr7:136913400-136937200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:136920200-136939000	Weak transcription	Fetal Kidney	kidney
6	chr7:136923200-136939600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:136923200-136940200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:136923600-136937800	Weak transcription	Brain Germinal Matrix	brain
9	chr7:136923800-136937600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:136924000-136936800	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:136924000-136939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:136924000-136939800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:136924400-136939200	Weak transcription	Aorta	Aorta
14	chr7:136924600-136941400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:136926600-136943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:136927000-136942600	Weak transcription	Fetal Brain Male	brain
17	chr7:136927200-136950000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:136927400-136939200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:136927400-136944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:136928600-136940000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:136929600-136943000	Weak transcription	Liver	Liver
22	chr7:136931200-136939200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:136931600-136943000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:136932600-136938600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:136933400-136938200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:136933800-136936400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:136933800-136938000	Strong transcription	Brain Anterior Caudate	brain
28	chr7:136934000-136935800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:136934000-136936200	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:136934200-136939600	Weak transcription	Fetal Brain Female	brain
31	chr7:136934600-136938000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:136934800-136935800	Weak transcription	Fetal Stomach	stomach
33	chr7:136934800-136937200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:136935400-136940600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:136935600-136938400	Strong transcription	Placenta	Placenta

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