Variant report

Variant	rs16833107
Chromosome Location	chr1:151233007-151233008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151226179..151229038-chr1:151231649..151233536,2	K562	blood:
2	chr1:151232549..151234323-chr1:151235189..151237747,2	MCF-7	breast:
3	1:151219411-151234038..1:151592347-151603110	K562	blood:
4	1:151171193-151178589..1:151219411-151234038	GM12878	blood:
5	chr1:151231717..151234446-chr1:151235033..151237516,2	K562	blood:
6	chr1:151225633..151229215-chr1:151231593..151235514,4	MCF-7	breast:
7	chr1:151231517..151234313-chr1:151236642..151238843,2	K562	blood:
8	chr1:151232097..151234568-chr1:151249498..151251245,2	MCF-7	breast:
9	chr1:151230341..151233216-chr1:151253682..151256078,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11204782	1.00[CHB][hapmap]
rs11577302	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs11584388	0.82[ASN][1000 genomes]
rs11807526	0.85[CHB][hapmap]
rs12087892	0.85[CHB][hapmap]
rs12739070	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12739135	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12743210	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16865250	1.00[ASN][1000 genomes]
rs1752382	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1752388	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1780586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1972348	0.91[EUR][1000 genomes]
rs2298265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2769275	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs35118469	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs35485741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35507974	0.87[EUR][1000 genomes]
rs35778855	0.87[EUR][1000 genomes]
rs35946639	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3748545	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59912932	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7523731	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS 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	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151227600-151236200	Weak transcription	Spleen	Spleen
2	chr1:151228000-151234600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151228000-151236200	Weak transcription	Gastric	stomach
4	chr1:151228200-151234600	Weak transcription	Ovary	ovary
5	chr1:151228200-151236400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:151228200-151237000	Weak transcription	Fetal Kidney	kidney
7	chr1:151228400-151234200	Weak transcription	Fetal Thymus	thymus
8	chr1:151228400-151234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:151228400-151234400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:151228400-151234400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:151228400-151234400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:151228400-151234400	Weak transcription	Thymus	Thymus
13	chr1:151228400-151234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:151228400-151234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:151228400-151234600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:151228400-151234600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:151228400-151234600	Weak transcription	Brain Substantia Nigra	brain
18	chr1:151228400-151234600	Weak transcription	Fetal Brain Female	brain
19	chr1:151228400-151234600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:151228400-151234600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:151228400-151234600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:151228400-151234800	Weak transcription	Colonic Mucosa	Colon
23	chr1:151228400-151234800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:151228400-151236200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:151228400-151236200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:151228400-151236400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:151228400-151236400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:151228400-151236400	Weak transcription	Aorta	Aorta
29	chr1:151228400-151236400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:151228400-151236400	Weak transcription	HSMMtube	muscle
31	chr1:151228400-151236400	Weak transcription	NHDF-Ad	bronchial
32	chr1:151228400-151236600	Weak transcription	Pancreas	Pancrea
33	chr1:151228400-151238200	Weak transcription	Small Intestine	intestine
34	chr1:151228400-151238400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:151228400-151244000	Weak transcription	Right Atrium	heart
36	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
37	chr1:151228600-151233800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:151228600-151234000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:151228600-151234000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:151228600-151234000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:151228600-151234000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:151228600-151234200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:151228600-151234200	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:151228600-151234400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:151228600-151234400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:151228600-151234400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:151228600-151234400	Weak transcription	Adipose Nuclei	Adipose
48	chr1:151228600-151234400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:151228600-151234400	Weak transcription	Brain Germinal Matrix	brain
50	chr1:151228600-151234600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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