Variant report

Variant	rs12571189
Chromosome Location	chr10:43815757-43815758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43815310..43817377-chr10:43891214..43892928,3	K562	blood:
2	chr10:43809902..43812557-chr10:43814429..43816002,2	K562	blood:

Variant related genes	Relation type
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11814130	1.00[CHB][hapmap]
rs11816311	1.00[CHB][hapmap]
rs11817723	1.00[CHB][hapmap]
rs11817841	1.00[CHB][hapmap]
rs11819010	1.00[CHB][hapmap]
rs12569974	1.00[CHB][hapmap]
rs12570790	1.00[CHB][hapmap]
rs12571047	1.00[CHB][hapmap]
rs12573288	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819030	1.00[EUR][1000 genomes]
rs55780623	0.90[ASN][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	chr10:43813400-43817800	Weak transcription	Fetal Intestine Large	intestine
12	chr10:43813400-43817800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:43814200-43815800	Enhancers	Brain Germinal Matrix	brain
14	chr10:43814400-43816400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:43814400-43816600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr10:43814800-43816000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr10:43814800-43818000	Weak transcription	A549	lung
18	chr10:43815000-43817800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:43815200-43816600	Enhancers	Duodenum Mucosa	Duodenum
20	chr10:43815200-43816800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:43815200-43818000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:43815200-43818000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:43815400-43818000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:43815600-43816400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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