Variant report

Variant	rs12149885
Chromosome Location	chr16:46861511-46861512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46857437..46861981-chr16:46862572..46865905,5	MCF-7	breast:
2	chr16:46781286..46782885-chr16:46859796..46861843,2	K562	blood:
3	chr16:46717600..46719603-chr16:46859611..46862308,2	K562	blood:
4	chr16:46859122..46862415-chr16:46862444..46865069,3	MCF-7	breast:
5	chr16:46854177..46856451-chr16:46859236..46861575,2	K562	blood:

Variant related genes	Relation type
ENSG00000155330	Chromatin interaction
ENSG00000140795	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7350845	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak 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	39 gene(s)	inside rSNPs	diseases
10	nsv1067283	chr16:46801709-46885218	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv3351528	chr16:46853500-46877470	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46824600-46863800	Weak transcription	Aorta	Aorta
2	chr16:46829000-46863400	Weak transcription	Fetal Stomach	stomach
3	chr16:46831600-46863000	Weak transcription	Fetal Muscle Leg	muscle
4	chr16:46831600-46863800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:46833600-46863000	Weak transcription	Fetal Thymus	thymus
6	chr16:46833600-46864200	Weak transcription	Pancreas	Pancrea
7	chr16:46834200-46863800	Weak transcription	Placenta	Placenta
8	chr16:46834600-46863800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:46835000-46862800	Weak transcription	HSMMtube	muscle
10	chr16:46836800-46863000	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:46837000-46863000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:46840200-46863800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:46841600-46863000	Weak transcription	Thymus	Thymus
14	chr16:46844200-46862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:46844200-46863200	Weak transcription	Adipose Nuclei	Adipose
16	chr16:46845200-46863000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:46845200-46863400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:46848400-46864200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:46848600-46862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:46849200-46862800	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:46849200-46863000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:46852400-46862400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:46853800-46863000	Weak transcription	Fetal Intestine Small	intestine
24	chr16:46854000-46864200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:46854800-46863000	Weak transcription	Brain Angular Gyrus	brain
26	chr16:46855400-46863200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr16:46855800-46863000	Weak transcription	Fetal Intestine Large	intestine
28	chr16:46856200-46863000	Weak transcription	Ovary	ovary
29	chr16:46856200-46863000	Weak transcription	Psoas Muscle	Psoas
30	chr16:46856400-46862200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr16:46856800-46862800	Weak transcription	Brain Substantia Nigra	brain
32	chr16:46856800-46862800	Weak transcription	A549	lung
33	chr16:46856800-46863600	Weak transcription	HSMM	muscle
34	chr16:46857000-46863000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:46857000-46863000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr16:46857000-46863000	Weak transcription	NHDF-Ad	bronchial
37	chr16:46857200-46862800	Weak transcription	Fetal Heart	heart
38	chr16:46857200-46863000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:46857200-46863000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:46857600-46863000	Weak transcription	Fetal Kidney	kidney
41	chr16:46857800-46862800	Weak transcription	Primary B cells from cord blood	blood
42	chr16:46858000-46863400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:46858200-46862200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:46858200-46863000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:46858200-46863000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr16:46858200-46863600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr16:46859400-46862000	Weak transcription	K562	blood
48	chr16:46859800-46862800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr16:46860400-46862800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr16:46860600-46863400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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