Variant report

Variant	rs2493651
Chromosome Location	chr10:43815131-43815132
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	chr10:43809902..43812557-chr10:43814429..43816002,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2460541	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2493649	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2503873	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2505519	0.88[AMR][1000 genomes]
rs2505522	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43805000-43818000	Weak transcription	Right Atrium	heart
2	chr10:43811600-43817800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:43811800-43817800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:43811800-43817800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:43811800-43817800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:43812600-43815800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:43812800-43818000	Weak transcription	Spleen	Spleen
8	chr10:43813200-43817800	Weak transcription	Fetal Intestine Small	intestine
9	chr10:43813200-43818000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:43813200-43818000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:43813400-43815200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:43813400-43817800	Weak transcription	Fetal Intestine Large	intestine
13	chr10:43813400-43817800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:43814200-43815800	Enhancers	Brain Germinal Matrix	brain
15	chr10:43814400-43816400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:43814400-43816600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr10:43814600-43815200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:43814600-43815200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:43814600-43815200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:43814600-43815400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:43814800-43816000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:43814800-43818000	Weak transcription	A549	lung
23	chr10:43815000-43815200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:43815000-43817800	Enhancers	HUES6 Cell Line	embryonic stem cell

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