Variant report

Variant	rs7457753
Chromosome Location	chr7:87777046-87777047
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	chr7:87746624..87748226-chr7:87775843..87778327,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10225853	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10441268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10952915	0.97[ASN][1000 genomes]
rs11975602	0.82[CHB][hapmap]
rs12535283	0.97[EUR][1000 genomes]
rs12537052	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12538010	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12704383	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12704384	0.94[EUR][1000 genomes]
rs12704385	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12704386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12704387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222429	0.94[EUR][1000 genomes]
rs13230365	0.85[EUR][1000 genomes]
rs13234177	0.85[EUR][1000 genomes]
rs13234922	0.85[EUR][1000 genomes]
rs13243228	0.97[EUR][1000 genomes]
rs17150232	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17255978	0.97[EUR][1000 genomes]
rs2888581	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34957515	0.88[EUR][1000 genomes]
rs35345233	1.00[EUR][1000 genomes]
rs35532369	0.85[EUR][1000 genomes]
rs35549447	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs36004514	0.97[EUR][1000 genomes]
rs4320482	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4728732	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs726329	0.85[EUR][1000 genomes]
rs7810342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv532148	chr7:87760675-88149417	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr7:87741200-87782600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:87762400-87782600	Weak transcription	GM12878-XiMat	blood
3	chr7:87767400-87796400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:87767600-87781200	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:87769200-87789200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:87770600-87778600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:87770600-87778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:87770800-87782400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:87770800-87784800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:87771200-87782600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:87773000-87780000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:87773000-87780800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:87773000-87788200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:87773200-87777400	Weak transcription	Fetal Kidney	kidney
15	chr7:87773200-87782400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:87773600-87786800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:87773800-87781000	Weak transcription	Fetal Thymus	thymus
18	chr7:87774000-87788600	Weak transcription	Primary T cells from cord blood	blood
19	chr7:87774200-87780800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:87775200-87780200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:87775600-87778600	Weak transcription	Dnd41	blood
22	chr7:87775800-87777600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:87775800-87779400	Weak transcription	HepG2	liver
24	chr7:87776000-87777200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:87776000-87780400	Weak transcription	Brain Anterior Caudate	brain
26	chr7:87776000-87784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:87776200-87777400	Weak transcription	Fetal Heart	heart
28	chr7:87776200-87784800	Weak transcription	Adipose Nuclei	Adipose
29	chr7:87776200-87805600	Weak transcription	Fetal Brain Male	brain
30	chr7:87776200-87831600	Weak transcription	Left Ventricle	heart
31	chr7:87776400-87780800	Weak transcription	Fetal Lung	lung
32	chr7:87776400-87787600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:87776600-87788400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:87777000-87777400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:87777000-87782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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