Variant report

Variant	rs7533225
Chromosome Location	chr1:9947630-9947631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9946281..9947867-chr1:10004858..10007220,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11121499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11809921	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1220408	0.93[ASN][1000 genomes]
rs15177	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17034420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033960	0.86[EUR][1000 genomes]
rs2278611	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3860318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3888014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56315207	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57979292	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58281392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59341676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59530761	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59533551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60389428	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60547803	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60624175	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61785229	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61785586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61785590	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683824	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6695334	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72858068	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74054138	0.85[AMR][1000 genomes]
rs7529783	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9930800-9949600	Weak transcription	Fetal Lung	lung
2	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:9935400-9948800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:9935600-9948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:9935600-9949200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:9935600-9949400	Weak transcription	HUVEC	blood vessel
7	chr1:9935600-9950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:9935800-9950800	Weak transcription	Aorta	Aorta
10	chr1:9936000-9948800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:9936000-9950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:9936000-9950000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:9936200-9949800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:9936400-9960200	Weak transcription	Liver	Liver
15	chr1:9937200-9950000	Weak transcription	Fetal Brain Male	brain
16	chr1:9938400-9950000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:9938600-9948800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:9938600-9949000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:9938600-9952800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:9938800-9949600	Weak transcription	Stomach Mucosa	stomach
21	chr1:9940800-9952400	Strong transcription	Fetal Intestine Small	intestine
22	chr1:9942000-9948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:9942400-9950000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:9942400-9950600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:9942600-9949800	Weak transcription	Osteobl	bone
26	chr1:9942600-9950000	Weak transcription	HepG2	liver
27	chr1:9942800-9949200	Weak transcription	NHLF	lung
28	chr1:9943000-9948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:9943000-9948800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:9943000-9949800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:9943000-9960200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:9943200-9961600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:9943400-9949000	Weak transcription	Thymus	Thymus
34	chr1:9943600-9960800	Weak transcription	Primary T cells from cord blood	blood
35	chr1:9944000-9948800	Weak transcription	Pancreas	Pancrea
36	chr1:9944200-9949200	Weak transcription	Spleen	Spleen
37	chr1:9944600-9950600	Weak transcription	Ovary	ovary
38	chr1:9944800-9948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:9945000-9949200	Strong transcription	Fetal Stomach	stomach
40	chr1:9945200-9948600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:9945200-9948800	Weak transcription	Fetal Thymus	thymus
42	chr1:9945200-9948800	Weak transcription	Right Atrium	heart
43	chr1:9945200-9949000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:9945200-9950000	Weak transcription	Brain Anterior Caudate	brain
45	chr1:9945200-9950000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:9945200-9950000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:9945400-9950000	Weak transcription	Fetal Brain Female	brain
48	chr1:9946600-9950600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:9946800-9948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:9946800-9948600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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