Variant report

Variant	rs2278030
Chromosome Location	chr16:71768651-71768652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr16:71768630-71768727	MCF10A-Er-Src	breast:	n/a	chr16:71768646-71768654
2	TEAD4	chr16:71768342-71768845	HepG2	liver:	n/a	n/a
3	HNF4G	chr16:71768425-71768781	HepG2	liver:	n/a	chr16:71768617-71768631 chr16:71768621-71768629 chr16:71768617-71768631 chr16:71768615-71768630 chr16:71768618-71768630

No.	Distal block	Cell Line	Cell type
1	chr16:71760087..71762768-chr16:71767472..71770185,3	MCF-7	breast:
2	chr16:71757196..71759664-chr16:71766555..71771218,5	MCF-7	breast:
3	chr16:71756712..71759795-chr16:71768156..71771579,4	MCF-7	breast:
4	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:

Variant related genes	Relation type
AP1G1	TF binding region
ENSG00000260612	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000261513	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2878494	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71758400-71771000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71758600-71776800	Weak transcription	Fetal Heart	heart
3	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:71761800-71778800	Weak transcription	Small Intestine	intestine
5	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71762600-71774400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:71762800-71769400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr16:71763200-71769200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:71763200-71799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:71763400-71769200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:71763400-71769400	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:71763400-71769600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:71763400-71774600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:71763400-71776000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr16:71763400-71802200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:71763600-71769200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:71763600-71769200	Strong transcription	Primary B cells from cord blood	blood
19	chr16:71763600-71769200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr16:71763600-71769200	Strong transcription	Placenta	Placenta
21	chr16:71763600-71769800	Strong transcription	GM12878-XiMat	blood
22	chr16:71763600-71784400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr16:71763600-71786200	Strong transcription	Osteobl	bone
24	chr16:71763600-71793000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr16:71763600-71800000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:71763600-71801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:71763800-71799600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:71763800-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:71764000-71769200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:71764000-71769200	Strong transcription	Fetal Thymus	thymus
32	chr16:71764000-71769200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:71764000-71769600	Strong transcription	Thymus	Thymus
34	chr16:71764000-71769600	Strong transcription	NHLF	lung
35	chr16:71764000-71774400	Strong transcription	Primary T cells from cord blood	blood
36	chr16:71764000-71784200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr16:71764000-71785200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:71764000-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:71764200-71769000	Strong transcription	A549	lung
41	chr16:71764200-71769200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:71764200-71769200	Strong transcription	Liver	Liver
43	chr16:71764200-71769200	Strong transcription	HSMM	muscle
44	chr16:71764200-71769200	Strong transcription	NH-A	brain
45	chr16:71764200-71769400	Strong transcription	HSMMtube	muscle
46	chr16:71764200-71769800	Strong transcription	Adipose Nuclei	Adipose
47	chr16:71764200-71784400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr16:71764400-71768800	Strong transcription	Brain Germinal Matrix	brain
49	chr16:71764400-71769000	Strong transcription	Left Ventricle	heart
50	chr16:71764400-71769000	Strong transcription	Rectal Mucosa Donor 31	rectum

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