Variant report

Variant	rs12221341
Chromosome Location	chr10:43857330-43857331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43856272..43860710-chr10:43899954..43905301,8	MCF-7	breast:
2	chr10:43787258..43789990-chr10:43857247..43859004,2	MCF-7	breast:
3	chr10:43845683..43851518-chr10:43853877..43859694,14	MCF-7	breast:
4	chr10:43851891..43853491-chr10:43856042..43858143,2	MCF-7	breast:
5	chr10:43855555..43859405-chr10:43889416..43893889,5	MCF-7	breast:
6	chr10:43856738..43859164-chr10:43866912..43868599,2	MCF-7	breast:
7	chr10:43856477..43861777-chr10:43890250..43893117,4	MCF-7	breast:
8	chr10:43856796..43859444-chr10:43950333..43952475,2	MCF-7	breast:
9	chr10:43811335..43814194-chr10:43855788..43859216,3	MCF-7	breast:
10	chr10:43843670..43847999-chr10:43855800..43861023,11	MCF-7	breast:
11	chr10:43571829..43574685-chr10:43855832..43858827,2	MCF-7	breast:
12	chr10:43855373..43860700-chr10:43866814..43875446,19	MCF-7	breast:
13	chr10:43855397..43862555-chr10:43901834..43907536,13	MCF-7	breast:
14	chr10:43855647..43857752-chr10:43878006..43881075,3	MCF-7	breast:
15	chr10:43857152..43860399-chr10:43897567..43900656,3	MCF-7	breast:
16	chr10:43856971..43858814-chr10:43891755..43893439,2	K562	blood:
17	chr10:43853521..43859723-chr10:43870896..43875408,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150201	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000165731	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10899792	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899794	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10899795	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[ASN][1000 genomes]
rs11238522	0.99[ASN][1000 genomes]
rs2243492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245710	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252744	0.84[ASN][1000 genomes]
rs2252761	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2253263	0.82[ASN][1000 genomes]
rs2460535	0.95[EUR][1000 genomes]
rs2460558	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2493659	0.96[EUR][1000 genomes]
rs2493661	0.88[ASN][1000 genomes]
rs2946992	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3000708	0.98[ASN][1000 genomes]
rs4245604	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4627023	0.84[ASN][1000 genomes]
rs60739384	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60789236	0.99[ASN][1000 genomes]
rs7912358	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43856600-43857400	Enhancers	Gastric	stomach
2	chr10:43856600-43858600	Active TSS	Rectal Smooth Muscle	rectum
3	chr10:43857000-43857400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
4	chr10:43857000-43857400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr10:43857000-43857400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr10:43857000-43857400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr10:43857000-43857400	Active TSS	Brain Cingulate Gyrus	brain
8	chr10:43857000-43857400	Flanking Active TSS	Fetal Intestine Small	intestine
9	chr10:43857000-43857400	Flanking Active TSS	Pancreas	Pancrea
10	chr10:43857000-43857400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr10:43857000-43857400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:43857000-43857400	Flanking Active TSS	Thymus	Thymus
13	chr10:43857000-43857400	Enhancers	Spleen	Spleen
14	chr10:43857000-43857600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr10:43857000-43857600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr10:43857000-43857600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr10:43857000-43857600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr10:43857000-43857600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr10:43857000-43857600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:43857000-43857600	Flanking Active TSS	Fetal Thymus	thymus
21	chr10:43857000-43857600	Flanking Active TSS	GM12878-XiMat	blood
22	chr10:43857000-43857600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr10:43857000-43858000	Active TSS	Colonic Mucosa	Colon
24	chr10:43857000-43858000	Active TSS	Duodenum Mucosa	Duodenum
25	chr10:43857000-43858200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr10:43857000-43858200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr10:43857000-43858200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr10:43857000-43858200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr10:43857000-43858200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr10:43857000-43858200	Active TSS	Fetal Intestine Large	intestine
31	chr10:43857000-43858400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr10:43857000-43858400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr10:43857000-43858400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr10:43857000-43858400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr10:43857000-43858400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr10:43857000-43858400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:43857000-43858400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:43857000-43858400	Active TSS	Brain Angular Gyrus	brain
39	chr10:43857000-43858600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr10:43857000-43858600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:43857000-43858600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:43857200-43857400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:43857200-43857400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:43857200-43857400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:43857200-43857400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:43857200-43857400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:43857200-43857400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:43857200-43857400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:43857200-43857400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:43857200-43857400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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