Variant report

Variant	rs1318640
Chromosome Location	chr7:26481359-26481360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26427415..26429605-chr7:26480362..26482553,2	K562	blood:
2	chr7:26468045..26469569-chr7:26481144..26484097,2	K562	blood:
3	chr7:26435194..26437360-chr7:26480063..26481898,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1229672	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229674	0.86[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229675	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229676	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229680	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229682	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229683	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229685	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229686	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229687	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229688	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229690	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1236949	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698728	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv606461	chr7:26460409-26485860	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26460600-26484600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:26477000-26482600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:26479000-26481800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:26479000-26481800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:26479200-26481400	Enhancers	Fetal Stomach	stomach
6	chr7:26479200-26482600	Enhancers	Fetal Lung	lung
7	chr7:26479400-26481800	Enhancers	Fetal Kidney	kidney
8	chr7:26479600-26481400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:26479600-26481600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:26479800-26481600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:26480000-26481400	Enhancers	Brain Substantia Nigra	brain
12	chr7:26480200-26482800	Weak transcription	K562	blood
13	chr7:26480400-26481400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:26480400-26481600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:26480400-26481800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:26480600-26481400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:26480600-26481400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:26480600-26481400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:26480600-26481600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:26480600-26481600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:26480600-26481800	Enhancers	Fetal Brain Male	brain
22	chr7:26480800-26481400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:26480800-26481600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:26480800-26481600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:26480800-26481600	Enhancers	Spleen	Spleen
26	chr7:26481000-26481400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:26481000-26481600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:26481000-26481600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:26481000-26481600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
30	chr7:26481200-26481400	Enhancers	Fetal Brain Female	brain
31	chr7:26481200-26481600	Enhancers	Brain Germinal Matrix	brain
32	chr7:26481200-26481600	Enhancers	Pancreas	Pancrea
33	chr7:26481200-26481800	Enhancers	Lung	lung

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