Variant report

Variant	rs12472663
Chromosome Location	chr2:231198620-231198621
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	chr2:231187795..231189523-chr2:231196681..231199404,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10209959	0.92[ASN][1000 genomes]
rs10210157	0.92[ASN][1000 genomes]
rs12467680	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12475879	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008045	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7573405	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7587298	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875945	chr2:231172642-231267925	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv869708	chr2:231173700-231267616	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1004183	chr2:231174420-231258603	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3486129	chr2:231175581-231265831	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3486131	chr2:231175581-231265831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1013738	chr2:231176856-231258603	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv584667	chr2:231177822-231258450	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv460119	chr2:231178876-231258450	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv584668	chr2:231178876-231258450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1001929	chr2:231179884-231258603	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1006206	chr2:231179884-231268938	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv584669	chr2:231183321-231258150	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv584670	chr2:231183786-231241276	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3374323	chr2:231186424-231244177	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231192000-231200400	Weak transcription	Spleen	Spleen
2	chr2:231192200-231211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:231192400-231199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:231192400-231202000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:231192600-231198800	Weak transcription	NHDF-Ad	bronchial
6	chr2:231192600-231199800	Weak transcription	Fetal Stomach	stomach
7	chr2:231192600-231200400	Weak transcription	Lung	lung
8	chr2:231192600-231200600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:231192600-231203200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:231192600-231211600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:231192600-231211800	Weak transcription	Gastric	stomach
12	chr2:231192600-231211800	Weak transcription	Ovary	ovary
13	chr2:231192600-231212200	Weak transcription	Pancreas	Pancrea
14	chr2:231192800-231200600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:231192800-231200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:231192800-231200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:231192800-231208800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:231192800-231212200	Weak transcription	HMEC	breast
19	chr2:231192800-231223800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:231193000-231212600	Weak transcription	Hela-S3	cervix
21	chr2:231193200-231199600	Weak transcription	Osteobl	bone
22	chr2:231193200-231200200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:231193200-231200200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:231193200-231211800	Weak transcription	NH-A	brain
25	chr2:231193400-231200800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:231193600-231200000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:231193600-231224000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:231193800-231198800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:231193800-231200000	Weak transcription	HepG2	liver
30	chr2:231193800-231201800	Weak transcription	HUVEC	blood vessel
31	chr2:231193800-231202400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:231194000-231222600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:231194200-231200200	Weak transcription	Thymus	Thymus
34	chr2:231194400-231199200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:231194600-231199200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:231194800-231200400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:231195000-231200800	Weak transcription	Small Intestine	intestine
38	chr2:231195400-231200000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:231195400-231202600	Weak transcription	Psoas Muscle	Psoas
40	chr2:231195800-231198800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:231195800-231198800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:231195800-231199800	Weak transcription	K562	blood
43	chr2:231195800-231200000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:231195800-231200000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:231195800-231200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:231195800-231200400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:231195800-231200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:231195800-231200400	Weak transcription	Aorta	Aorta
49	chr2:231195800-231202800	Weak transcription	HSMMtube	muscle
50	chr2:231195800-231211800	Weak transcription	Left Ventricle	heart

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