Variant report

Variant	rs16847867
Chromosome Location	chr1:224570236-224570237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224544369..224547358-chr1:224569663..224571789,2	MCF-7	breast:
2	chr1:224568653..224571407-chr1:224574345..224577336,2	MCF-7	breast:
3	chr1:224569517..224571883-chr1:224576104..224578956,2	K562	blood:

Variant related genes	Relation type
ENSG00000143771	Chromatin interaction

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

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

rs_ID	r²[population]
rs10495218	1.00[YRI][hapmap]
rs10495221	0.96[YRI][hapmap]
rs10799556	0.93[ASW][hapmap]
rs11800357	0.82[YRI][hapmap]
rs11801211	0.85[ASW][hapmap]
rs11802182	0.85[ASW][hapmap]
rs11809688	0.85[YRI][hapmap]
rs11809710	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11810160	0.82[YRI][hapmap]
rs11812007	0.86[ASW][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs16846212	0.85[ASW][hapmap]
rs16846293	0.85[ASW][hapmap]
rs16846339	0.85[ASW][hapmap]
rs16847675	0.81[YRI][hapmap]
rs16847784	0.93[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap]
rs16847870	0.85[YRI][hapmap]
rs16847871	0.93[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap]
rs16848356	0.81[YRI][hapmap]
rs16848382	0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap]
rs1857042	0.81[YRI][hapmap]
rs2211327	0.82[YRI][hapmap]
rs6702649	0.85[YRI][hapmap]
rs7531588	0.85[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
2	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
3	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224548000-224576000	Weak transcription	Fetal Brain Male	brain
5	chr1:224555800-224581400	Weak transcription	Fetal Heart	heart
6	chr1:224556000-224591000	Weak transcription	Small Intestine	intestine
7	chr1:224563000-224577200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:224563000-224593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:224563600-224571200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:224564600-224576600	Weak transcription	Ovary	ovary
11	chr1:224565000-224575000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:224565000-224575800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:224565000-224576800	Weak transcription	NHEK	skin
14	chr1:224565000-224577200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:224565000-224577200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:224565000-224577200	Weak transcription	Colonic Mucosa	Colon
17	chr1:224565000-224577200	Weak transcription	Pancreas	Pancrea
18	chr1:224565000-224577200	Weak transcription	Spleen	Spleen
19	chr1:224565000-224581200	Weak transcription	Right Ventricle	heart
20	chr1:224565000-224582600	Weak transcription	Esophagus	oesophagus
21	chr1:224565000-224586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:224565200-224572000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:224565200-224572400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:224565200-224574600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:224565200-224576000	Weak transcription	Hela-S3	cervix
26	chr1:224565400-224577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:224565600-224575000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:224565800-224576600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:224566000-224574600	Weak transcription	NHLF	lung
30	chr1:224566000-224576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:224566000-224576800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:224566200-224573200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:224566200-224575000	Weak transcription	Left Ventricle	heart
34	chr1:224566200-224576400	Weak transcription	HepG2	liver
35	chr1:224566200-224577000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:224566200-224577200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:224566400-224577800	Weak transcription	Fetal Intestine Small	intestine
38	chr1:224567000-224577400	Weak transcription	Lung	lung
39	chr1:224567000-224577600	Weak transcription	Gastric	stomach
40	chr1:224567000-224579600	Weak transcription	Psoas Muscle	Psoas
41	chr1:224567200-224573800	Weak transcription	Liver	Liver
42	chr1:224567200-224574000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:224567200-224574000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:224567200-224574800	Weak transcription	A549	lung
45	chr1:224567200-224577000	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:224567400-224571000	Weak transcription	HMEC	breast
47	chr1:224567400-224571800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:224567400-224572600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:224567400-224573200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:224567400-224575200	Weak transcription	H1 Cell Line	embryonic stem cell

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