Variant report

Variant	rs1945508
Chromosome Location	chr13:39457850-39457851
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	chr13:39457286..39459504-chr13:39463520..39465415,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11147739	0.81[EUR][1000 genomes]
rs12429381	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12429382	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1945503	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2184141	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187523	0.83[EUR][1000 genomes]
rs2225623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575410	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6563648	0.94[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139901	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73186708	0.97[ASN][1000 genomes]
rs7325590	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7327529	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337135	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995863	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7996155	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8002781	0.85[EUR][1000 genomes]
rs9315622	0.85[EUR][1000 genomes]
rs9566368	0.90[ASN][1000 genomes]
rs9566369	0.86[EUR][1000 genomes]
rs9566371	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576629	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9576630	0.86[EUR][1000 genomes]
rs9576632	0.86[EUR][1000 genomes]
rs9576634	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9594304	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39430600-39458000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:39430600-39462400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:39432200-39458200	Weak transcription	Gastric	stomach
4	chr13:39432600-39468600	Weak transcription	Psoas Muscle	Psoas
5	chr13:39446400-39458000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:39447000-39458800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:39447000-39462400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:39447000-39462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:39451400-39468200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:39453800-39458200	Weak transcription	Ovary	ovary
11	chr13:39454000-39458000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:39454400-39458200	Weak transcription	Fetal Intestine Large	intestine
13	chr13:39454600-39458000	Weak transcription	Fetal Intestine Small	intestine
14	chr13:39454600-39458200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:39455000-39462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:39455400-39458000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:39456400-39465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:39457000-39458400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:39457600-39458400	Enhancers	NH-A	brain
20	chr13:39457800-39458200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:39457800-39458400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:39457800-39458400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr13:39457800-39458400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:39457800-39458400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:39457800-39458400	Enhancers	Fetal Kidney	kidney
26	chr13:39457800-39458600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:39457800-39458600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:39457800-39459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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