Variant report

Variant	rs16849150
Chromosome Location	chr4:73919563-73919564
allele	A/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	POLR2A	chr4:73919510-73919690	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:73918831..73921818-chr4:73928688..73931173,2	K562	blood:
2	chr4:73918845..73921259-chr4:74116403..74118681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272859	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10028486	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11933644	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16849102	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16849106	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16849108	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16849146	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849172	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16849185	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs2061574	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061575	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061576	0.94[ASN][1000 genomes]
rs2061577	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366716	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28373296	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28460851	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28709646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28776801	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3796680	0.84[ASN][1000 genomes]
rs4019514	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4615148	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4631009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694589	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56235322	0.93[ASN][1000 genomes]
rs56382488	0.93[ASN][1000 genomes]
rs57330350	0.97[ASN][1000 genomes]
rs61149200	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61468561	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61661011	0.83[ASN][1000 genomes]
rs67995155	0.83[EUR][1000 genomes]
rs6824334	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6845845	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6849701	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6851670	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72859248	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859249	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72861861	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7661799	0.87[EUR][1000 genomes]
rs7670286	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7674847	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7675007	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7675027	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7676278	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7679277	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7687433	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7690799	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691344	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7692425	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7692749	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7694505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73910800-73920400	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:73911000-73922600	Weak transcription	Spleen	Spleen
3	chr4:73911400-73924600	Weak transcription	Pancreas	Pancrea
4	chr4:73912600-73922000	Weak transcription	Aorta	Aorta
5	chr4:73915200-73922800	Weak transcription	Right Ventricle	heart
6	chr4:73915200-73925600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:73916200-73921000	Weak transcription	NH-A	brain
8	chr4:73916200-73921400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:73916200-73924400	Weak transcription	A549	lung
10	chr4:73916400-73920600	Weak transcription	GM12878-XiMat	blood
11	chr4:73916800-73919800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:73917000-73920000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:73917000-73922000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:73917200-73923800	Weak transcription	Gastric	stomach
15	chr4:73917200-73931000	Weak transcription	Fetal Heart	heart
16	chr4:73917200-73933800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:73917400-73920600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:73917400-73921200	Weak transcription	Fetal Lung	lung
19	chr4:73917400-73922600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:73917400-73932000	Weak transcription	Psoas Muscle	Psoas
21	chr4:73917600-73919600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:73917600-73920600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:73917600-73920600	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:73917600-73920600	Weak transcription	Ovary	ovary
25	chr4:73917600-73920600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:73917600-73920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:73917600-73920600	Weak transcription	Osteobl	bone
28	chr4:73917600-73920800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:73917600-73921000	Weak transcription	Left Ventricle	heart
30	chr4:73917600-73921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:73917600-73921600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:73917600-73921600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:73917600-73922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:73917600-73923800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:73917800-73919600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:73917800-73919600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:73917800-73920200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:73917800-73920600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:73917800-73920600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:73917800-73920600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:73917800-73920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:73917800-73921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:73917800-73921000	Weak transcription	Fetal Brain Female	brain
44	chr4:73917800-73921600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:73917800-73921800	Weak transcription	HSMMtube	muscle
46	chr4:73917800-73923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:73917800-73924600	Weak transcription	Esophagus	oesophagus
48	chr4:73918000-73920800	Weak transcription	Dnd41	blood
49	chr4:73918000-73921400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:73918000-73924600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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