Variant report

Variant	rs12221840
Chromosome Location	chr11:107712430-107712431
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	chr11:107711394..107713234-chr11:107715059..107718295,3	K562	blood:
2	chr11:107709816..107713345-chr11:107727610..107729677,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110660	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10431032	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10789638	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890767	0.89[ASN][1000 genomes]
rs10890768	0.87[ASN][1000 genomes]
rs10890769	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890770	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212405	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212408	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212410	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11212411	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11212414	0.81[AFR][1000 genomes]
rs11212416	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11212419	0.85[EUR][1000 genomes]
rs11603925	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11603959	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12278174	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12417231	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12418609	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3105397	0.82[ASN][1000 genomes]
rs3741065	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4466794	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4587695	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4753819	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753820	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4753821	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754264	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4754265	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4754267	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4754268	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4754270	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs483463	0.82[ASN][1000 genomes]
rs483874	0.82[ASN][1000 genomes]
rs488081	0.82[ASN][1000 genomes]
rs522861	0.81[ASN][1000 genomes]
rs523750	0.82[ASN][1000 genomes]
rs529987	0.82[ASN][1000 genomes]
rs55669117	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56139321	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56218864	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs565438	0.82[ASN][1000 genomes]
rs566238	0.82[ASN][1000 genomes]
rs573074	0.82[ASN][1000 genomes]
rs578300	0.82[ASN][1000 genomes]
rs579485	0.80[ASN][1000 genomes]
rs58034440	0.87[ASN][1000 genomes]
rs7102437	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7109214	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7121733	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73007259	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7941501	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7946548	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7949443	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924859	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs924860	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1035229	chr11:107653731-107717190	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv1052829	chr11:107686808-107725297	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1045388	chr11:107686808-107733498	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3417743	chr11:107699670-107725103	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107673400-107727800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:107705200-107718600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:107709400-107713400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:107709600-107712600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:107710000-107712600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:107710400-107713600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:107710600-107712600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:107710600-107712800	Enhancers	Placenta	Placenta
9	chr11:107710800-107712600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:107711200-107715200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:107711400-107712600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:107711400-107713800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:107711400-107715000	Enhancers	HMEC	breast
14	chr11:107711600-107712800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr11:107711600-107713400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:107711600-107719400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:107711600-107720600	Weak transcription	Pancreas	Pancrea
18	chr11:107711800-107712600	Flanking Active TSS	GM12878-XiMat	blood
19	chr11:107711800-107713400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:107711800-107719200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:107711800-107722400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:107712000-107712800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:107712000-107712800	Enhancers	A549	lung
24	chr11:107712000-107712800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:107712000-107713200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:107712000-107713600	Enhancers	NH-A	brain
27	chr11:107712000-107713800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:107712000-107713800	Enhancers	Hela-S3	cervix
29	chr11:107712000-107715000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:107712000-107715000	Enhancers	HUVEC	blood vessel
31	chr11:107712000-107715200	Enhancers	NHEK	skin
32	chr11:107712000-107718400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:107712000-107719200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:107712000-107719200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:107712000-107720600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:107712200-107712600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:107712200-107712600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr11:107712200-107712600	Enhancers	K562	blood
39	chr11:107712200-107712800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:107712200-107714800	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:107712200-107715200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:107712200-107720800	Weak transcription	Esophagus	oesophagus
43	chr11:107712200-107723000	Weak transcription	HSMM	muscle
44	chr11:107712200-107728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:107712400-107713000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:107712400-107713400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:107712400-107716000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:107712400-107718400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:107712400-107720800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:107712400-107727200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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